{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T15:29:54Z","timestamp":1791300594458,"version":"4.1.0"},"reference-count":195,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2013,8,13]],"date-time":"2013-08-13T00:00:00Z","timestamp":1376352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2013,8,13]],"date-time":"2013-08-13T00:00:00Z","timestamp":1376352000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Rev Neurol"],"published-print":{"date-parts":[[2013,10]]},"DOI":"10.1038\/nrneurol.2013.163","type":"journal-article","created":{"date-parts":[[2013,8,13]],"date-time":"2013-08-13T06:41:27Z","timestamp":1376376087000},"page":"583-598","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":220,"title":["Lysosomal storage diseases\u2014the horizon expands"],"prefix":"10.1038","volume":"9","author":[{"given":"Rose-Mary Naaman","family":"Boustany","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,8,13]]},"reference":[{"key":"BFnrneurol2013163_CR1","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1038\/ncb0905-847","volume":"7","author":"C de Duve","year":"2005","unstructured":"de Duve, C. The lysosome turns fifty. Nat. Cell Biol. 7, 847\u2013849 (2005).","journal-title":"Nat. Cell Biol."},{"key":"BFnrneurol2013163_CR2","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1016\/S0016-5085(65)80041-5","volume":"48","author":"HG Hers","year":"1965","unstructured":"Hers, H. G. Inborn lysosomal diseases. Gastroenterology 48, 625\u2013633 (1965).","journal-title":"Gastroenterology"},{"key":"BFnrneurol2013163_CR3","first-page":"697","volume":"63","author":"B Sachs","year":"1896","unstructured":"Sachs, B. A family form of idiocy, generally fatal and associated with early blindness (amaurotic family idiocy). N. Y. Med. J. 63, 697\u2013703 (1896).","journal-title":"N. Y. Med. J."},{"key":"BFnrneurol2013163_CR4","first-page":"2449","volume-title":"Emery and Rimoin's Principles and Practice of Medical Genetics","author":"RM Boustany","year":"2007","unstructured":"Boustany, R. M. & Mousallem, T. in Emery and Rimoin's Principles and Practice of Medical Genetics (eds Rimoin, D. et al.) 2449\u20132485 (Elsevier, 2007)."},{"key":"BFnrneurol2013163_CR5","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.bbapap.2011.03.007","volume":"1824","author":"A Ciechanover","year":"2012","unstructured":"Ciechanover, A. Intracellular protein degradation: from a vague idea, through the lysosome and the ubiquitin-proteasome system and onto human diseases and drug targeting. Biochim. Biophys. Acta 1824, 3\u201313 (2012).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFnrneurol2013163_CR6","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1016\/j.bbamcr.2008.08.009","volume":"1793","author":"FM Platt","year":"2009","unstructured":"Platt, F. M. & Lachmann, R. H. Treating lysosomal storage disorders: current practice and future prospects. Biochim. Biophys. Acta 1793, 737\u2013745 (2009).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFnrneurol2013163_CR7","doi-asserted-by":"publisher","first-page":"684","DOI":"10.1016\/j.bbamcr.2008.12.001","volume":"1793","author":"A Ballabio","year":"2009","unstructured":"Ballabio, A. & Gieselmann, V. Lysosomal disorders: from storage to cellular damage. Biochim. Biophys. Acta 1793, 684\u2013696 (2009).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFnrneurol2013163_CR8","first-page":"1045","volume":"23","author":"C Deduve","year":"1964","unstructured":"Deduve, C. From cytases to lysosomes. Fed. Proc. 23, 1045\u20131049 (1964).","journal-title":"Fed. Proc."},{"key":"BFnrneurol2013163_CR9","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1146\/annurev-genom-090711-163739","volume":"13","author":"RJ Desnick","year":"2012","unstructured":"Desnick, R. J. & Schuchman, E. H. Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges. Annu. Rev. Genomics Hum. Genet. 13, 307\u2013335 (2012).","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"BFnrneurol2013163_CR10","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1146\/annurev.genom.9.081307.164303","volume":"9","author":"M Huizing","year":"2008","unstructured":"Huizing, M., Helip-Wooley, A., Westbroek, W., Gunay-Aygun, M. & Gahl, W. A. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu. Rev. Genomics Hum. Genet. 9, 359\u2013386 (2008).","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"BFnrneurol2013163_CR11","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1016\/j.ajhg.2007.12.019","volume":"82","author":"SF Berkovic","year":"2008","unstructured":"Berkovic, S. F. et al. Array-based gene discovery with three unrelated subjects shows SCARB2\/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am. J. Hum. Genet. 82, 673\u2013684 (2008).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrneurol2013163_CR12","first-page":"161","volume":"19","author":"H Vogt","year":"1905","unstructured":"Vogt, H. Uber familiare amaurotische idiotie und verwandte krankheitsbilder [German]. Monatsschr. Psychiatr. Neurol. 19, 161\u2013171 (1905).","journal-title":"Monatsschr. Psychiatr. Neurol."},{"key":"BFnrneurol2013163_CR13","doi-asserted-by":"publisher","first-page":"20423","DOI":"10.1074\/jbc.R110.134452","volume":"285","author":"EB Vitner","year":"2010","unstructured":"Vitner, E. B., Platt, F. M. & Futerman, A. H. Common and uncommon pathogenic cascades in lysosomal storage diseases. J. Biol. Chem. 285, 20423\u201320427 (2010).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol2013163_CR14","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1001\/archneur.1979.00500380058006","volume":"36","author":"P Aula","year":"1979","unstructured":"Aula, P. et al. 'Salla disease': a new lysosomal storage disorder. Arch. Neurol. 36, 88\u201394 (1979).","journal-title":"Arch. Neurol."},{"key":"BFnrneurol2013163_CR15","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1111\/j.1651-2227.1993.tb12761.x","volume":"82","author":"M Arvio","year":"1993","unstructured":"Arvio, M., Autio, S. & Louhiala, P. Early clinical symptoms and incidence of aspartylglucosaminuria in Finland. Acta Paediatr. 82, 587\u2013589 (1993).","journal-title":"Acta Paediatr."},{"key":"BFnrneurol2013163_CR16","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1056\/NEJM200107053450104","volume":"345","author":"A Frustaci","year":"2001","unstructured":"Frustaci, A. et al. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N. Engl. J. Med. 345, 25\u201332 (2001).","journal-title":"N. Engl. J. Med."},{"key":"BFnrneurol2013163_CR17","first-page":"33","volume":"30","author":"HG Kumperscak","year":"2005","unstructured":"Kumperscak, H. G., Paschke, E., Gradisnik, P., Vidmar, J. & Bradac, S. U. Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and postpartum depression in 2 sisters. J. Psychiatry Neurosci. 30, 33\u201336 (2005).","journal-title":"J. Psychiatry Neurosci."},{"key":"BFnrneurol2013163_CR18","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1016\/j.ajhg.2011.04.004","volume":"88","author":"T Arsov","year":"2011","unstructured":"Arsov, T. et al. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am. J. Hum. Genet. 88, 566\u2013573 (2011).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrneurol2013163_CR19","first-page":"347","volume":"1","author":"OC Stengel","year":"1826","unstructured":"Stengel, O. C. Beretning om et m\u00e6rkeligt Sygdomstilfaelde hos fire S\u00f8dskende I N\u00e6rheden af R\u00f6raas [Norwegian]. Eyr. Med. Tidskr. 1, 347\u2013352 (1826).","journal-title":"Eyr. Med. Tidskr."},{"key":"BFnrneurol2013163_CR20","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1002\/ajmg.1320310608","volume":"5","author":"RM Boustany","year":"1988","unstructured":"Boustany, R. M., Alroy, J. & Kolodny, E. H. Clinical classification of neuronal ceroid-lipofuscinosis subtypes. Am. J. Med. Genet. Suppl. 5, 47\u201358 (1988).","journal-title":"Am. J. Med. Genet. Suppl."},{"key":"BFnrneurol2013163_CR21","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1111\/j.1750-3639.1996.tb00850.x","volume":"6","author":"HH Goebel","year":"1996","unstructured":"Goebel, H. H., Gerhard, L., Kominami, E. & Haltia, M. Neuronal ceroid-lipofuscinosis\u2014late-infantile or Jansky-Bielschowsky type\u2014revisited. Brain Pathol. 6, 225\u2013228 (1996).","journal-title":"Brain Pathol."},{"key":"BFnrneurol2013163_CR22","first-page":"386","volume":"23","author":"FE Batten","year":"1903","unstructured":"Batten, F. E. Cerebral degeneration with symmetrical changes in the maculae in two members of family. Trans. Ophthalmol. Soc. UK 23, 386\u2013390 (1903).","journal-title":"Trans. Ophthalmol. Soc. UK"},{"key":"BFnrneurol2013163_CR23","first-page":"1","volume":"51","author":"H Vogt","year":"1909","unstructured":"Vogt, H. Familiare amaurotische idiotie. Histologische and histopathologische studien [German]. Arch. Kinderheilk. 51, 1\u201335 (1909).","journal-title":"Arch. Kinderheilk."},{"key":"BFnrneurol2013163_CR24","first-page":"165","volume":"13","author":"J Jansky","year":"1908","unstructured":"Jansky, J. Sur un cas jusqu'a pr\u00e9sente non d\u00e9crit de l'idiotie amaurotique familiale compliqu\u00e9e par une hypolasie du cervelet [French]. Sborn. Lek. 13, 165\u2013196 (1908).","journal-title":"Sborn. Lek."},{"key":"BFnrneurol2013163_CR25","first-page":"7","volume":"50","author":"M Bielschowsky","year":"1913","unstructured":"Bielschowsky, M. Uber spatinfantile amaurotische Idiotie mit Kleinhirnsymptomen [German]. Dtsch. Z. Nervenheilk. 50, 7\u201329 (1913).","journal-title":"Dtsch. Z. Nervenheilk."},{"key":"BFnrneurol2013163_CR26","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1007\/s10545-010-9079-5","volume":"33","author":"LB Jardim","year":"2010","unstructured":"Jardim, L. B., Villanueva, M. M., de Souza, C. F. & Netto, C. B. Clinical aspects of neuropathic lysosomal storage disorders. J. Inherit. Metab. Dis. 33, 315\u2013329 (2010).","journal-title":"J. Inherit. Metab. Dis."},{"key":"BFnrneurol2013163_CR27","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1515\/bchm2.1939.262.3-5.128","volume":"262","author":"E Klenk","year":"1939","unstructured":"Klenk, E. Beitrage zur Chemie der Lipidosen, Niemann-Picksche und amaurotische Idiotie, Hoppe-Seyler [German]. Z. Physiol. Chem. 262, 128\u2013143 (1939).","journal-title":"Z. Physiol. Chem."},{"key":"BFnrneurol2013163_CR28","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1016\/0006-291X(62)90030-X","volume":"9","author":"L Svennerholm","year":"1962","unstructured":"Svennerholm, L. The chemical structure of normal human brain and Tay-Sachs gangliosides. Biochem. Biophys. Res. Commun. 9, 436\u2013441 (1962).","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"6","key":"BFnrneurol2013163_CR29","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1016\/0092-8674(95)90274-0","volume":"82","author":"Terry J Lerner","year":"1995","unstructured":"[No authors listed] Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell 82, 949\u2013957 (1995).","journal-title":"Cell"},{"key":"BFnrneurol2013163_CR30","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1046\/j.1471-4159.1996.67020677.x","volume":"67","author":"SC Lane","year":"1996","unstructured":"Lane, S. C., Jolly, R. D., Schmechel, D. E., Alroy, J. & Boustany, R. M. Apoptosis as the mechanism of neurodegeneration in Batten's disease. J. Neurochem. 67, 677\u2013683 (1996).","journal-title":"J. Neurochem."},{"key":"BFnrneurol2013163_CR31","doi-asserted-by":"publisher","unstructured":"Haltia, M. & Goebel, H. H. The neuronal ceroid-lipofuscinoses: a historical introduction. Biochim. Biophys. Acta http:\/\/dx.doi.org\/10.1016\/j.bbadis.2012.08.012.","DOI":"10.1016\/j.bbadis.2012.08.012"},{"key":"BFnrneurol2013163_CR32","doi-asserted-by":"publisher","first-page":"3798","DOI":"10.1002\/elps.201200472","volume":"33","author":"SE Haddad","year":"2012","unstructured":"Haddad, S. E. et al. CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. Electrophoresis 33, 3798\u20133809 (2012).","journal-title":"Electrophoresis"},{"key":"BFnrneurol2013163_CR33","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780199590018.001.0001","volume-title":"The Neuronal Ceroid Lipofuscinoses, Batten Disease","author":"S Mole","year":"2012","unstructured":"Mole, S., Williams, R. & Goebel, H. (Eds) The Neuronal Ceroid Lipofuscinoses, Batten Disease (Oxford University Press, 2012)."},{"key":"BFnrneurol2013163_CR34","doi-asserted-by":"publisher","first-page":"510","DOI":"10.4161\/auto.5724","volume":"4","author":"P Saftig","year":"2008","unstructured":"Saftig, P., Beertsen, W. & Eskelinen, E. L. LAMP-2: a control step for phagosome and autophagosome maturation. Autophagy 4, 510\u2013512 (2008).","journal-title":"Autophagy"},{"key":"BFnrneurol2013163_CR35","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1016\/S1084952102000551","volume":"13","author":"TE Weaver","year":"2002","unstructured":"Weaver, T. E., Na, C. L. & Stahlman, M. Biogenesis of lamellar bodies, lysosome-related organelles involved in storage and secretion of pulmonary surfactant. Semin. Cell Dev. Biol. 13, 263\u2013270 (2002).","journal-title":"Semin. Cell Dev. Biol."},{"key":"BFnrneurol2013163_CR36","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1038\/nrm2745","volume":"10","author":"P Saftig","year":"2009","unstructured":"Saftig, P. & Klumperman, J. Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function. Nat. Rev. Mol. Cell Biol. 10, 623\u2013635 (2009).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"BFnrneurol2013163_CR37","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1016\/j.tins.2011.05.006","volume":"34","author":"ML Schultz","year":"2011","unstructured":"Schultz, M. L., Tecedor, L., Chang, M. & Davidson, B. L. Clarifying lysosomal storage diseases. Trends Neurosci. 34, 401\u2013410 (2011).","journal-title":"Trends Neurosci."},{"key":"BFnrneurol2013163_CR38","doi-asserted-by":"publisher","first-page":"1183","DOI":"10.1007\/s10545-011-9359-8","volume":"34","author":"EA Braunlin","year":"2011","unstructured":"Braunlin, E. A. et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J. Inherit. Metab. Dis. 34, 1183\u20131197 (2011).","journal-title":"J. Inherit. Metab. Dis."},{"key":"BFnrneurol2013163_CR39","doi-asserted-by":"publisher","first-page":"1329","DOI":"10.1002\/ajmg.a.34013","volume":"155A","author":"JY Kwon","year":"2011","unstructured":"Kwon, J. Y. et al. High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome). Am. J. Med. Genet. A 155A, 1329\u20131335 (2011).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFnrneurol2013163_CR40","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1159\/000345635","volume":"48","author":"A Jurecka","year":"2012","unstructured":"Jurecka, A., Opoka-Winiarska, V., Jurkiewicz, E., Marucha, J. & Tylki-Szyman\u00b4ska, A. Spinal cord compression in Maroteaux-Lamy syndrome: case report and review of the literature with effects of enzyme replacement therapy. Pediatr. Neurosurg. 48, 191\u2013198 (2012).","journal-title":"Pediatr. Neurosurg."},{"key":"BFnrneurol2013163_CR41","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/j.ymgme.2007.01.011","volume":"91","author":"GM Pastores","year":"2007","unstructured":"Pastores, G. M. et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol. Genet. Metab. 91, 37\u201347 (2007).","journal-title":"Mol. Genet. Metab."},{"key":"BFnrneurol2013163_CR42","doi-asserted-by":"publisher","first-page":"1207","DOI":"10.1002\/ppul.20725","volume":"42","author":"N Guillemot","year":"2007","unstructured":"Guillemot, N., Troadec, C., de Villemeur, T. B., Cl\u00e9ment, A. & Fauroux, B. Lung disease in Niemann-Pick disease. Pediatr. Pulmonol. 42, 1207\u20131214 (2007).","journal-title":"Pediatr. Pulmonol."},{"key":"BFnrneurol2013163_CR43","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.prrv.2010.10.005","volume":"12","author":"MS Muhlebach","year":"2011","unstructured":"Muhlebach, M. S., Wooten, W. & Muenzer, J. Respiratory manifestations in mucopolysaccharidoses. Paediatr. Respir. Rev. 12, 133\u2013138 (2011).","journal-title":"Paediatr. Respir. Rev."},{"issue":"Suppl. 5","key":"BFnrneurol2013163_CR44","doi-asserted-by":"publisher","first-page":"v4","DOI":"10.1093\/rheumatology\/ker394","volume":"50","author":"J Muenzer","year":"2011","unstructured":"Muenzer, J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 50 (Suppl. 5), v4\u2013v12 (2011).","journal-title":"Rheumatology (Oxford)"},{"key":"BFnrneurol2013163_CR45","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1016\/S0165-5876(86)80034-9","volume":"11","author":"I Brama","year":"1986","unstructured":"Brama, I., Gay, I., Feinmesser, R. & Springer, C. Upper airway obstruction in Hunter syndrome. Int. J. Pediatr. Otorhinolaryngol. 11, 229\u2013235 (1986).","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"BFnrneurol2013163_CR46","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1034\/j.1600-0455.2002.430108.x","volume":"43","author":"SL Shih","year":"2002","unstructured":"Shih, S. L., Lee, Y. J., Lin, S. P., Sheu, C. Y. & Blickman, J. G. Airway changes in children with mucopolysaccharidoses. Acta Radiol. 43, 40\u201343 (2002).","journal-title":"Acta Radiol."},{"key":"BFnrneurol2013163_CR47","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1177\/000348948509400508","volume":"94","author":"J Shapiro","year":"1985","unstructured":"Shapiro, J., Strome, M. & Crocker, A. C. Airway obstruction and sleep apnea in Hurler and Hunter syndromes. Ann. Otol. Rhinol. Laryngol. 94, 458\u2013461 (1985).","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"BFnrneurol2013163_CR48","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1016\/0165-5876(93)90096-L","volume":"26","author":"JM Morehead","year":"1993","unstructured":"Morehead, J. M. & Parsons, D. S. Tracheobronchomalacia in Hunter's syndrome. Int. J. Pediatr. Otorhinolaryngol. 26, 255\u2013261 (1993).","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"BFnrneurol2013163_CR49","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1096\/fj.03-0941fje","volume":"18","author":"EJ Bonten","year":"2004","unstructured":"Bonten, E. J. et al. Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis. FASEB J. 18, 971\u2013973 (2004).","journal-title":"FASEB J."},{"key":"BFnrneurol2013163_CR50","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1046\/j.1525-1470.1998.1998015370.x","volume":"15","author":"DM Thappa","year":"1998","unstructured":"Thappa, D. M., Singh, A., Jaisankar, T. J., Rao, R. & Ratnakar, C. Pebbling of the skin: a marker of Hunter's syndrome. Pediatr. Dermatol. 15, 370\u2013373 (1998).","journal-title":"Pediatr. Dermatol."},{"key":"BFnrneurol2013163_CR51","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1016\/j.ejmg.2010.02.001","volume":"53","author":"M M\u00f6hrenschlager","year":"2010","unstructured":"M\u00f6hrenschlager, M., Lauenstein, M., Ring, J. & Steiner, C. Synophrys. Eur. J. Med. Genet. 53, 225\u2013226 (2010).","journal-title":"Eur. J. Med. Genet."},{"key":"BFnrneurol2013163_CR52","first-page":"2403","volume-title":"Emery and Rimoin's Principles and Practice of Medical Genetics","author":"J Spranger","year":"2007","unstructured":"Spranger, J. in Emery and Rimoin's Principles and Practice of Medical Genetics (eds Rimion, D. L. et al.) 2403\u20132412 (Elsevier, 2007)."},{"key":"BFnrneurol2013163_CR53","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1007\/s10545-007-0521-2","volume":"30","author":"CM Eng","year":"2007","unstructured":"Eng, C. M. et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J. Inherit. Metab. Dis. 30, 184\u2013192 (2007).","journal-title":"J. Inherit. Metab. Dis."},{"key":"BFnrneurol2013163_CR54","doi-asserted-by":"publisher","first-page":"992","DOI":"10.7326\/0003-4819-110-12-992","volume":"110","author":"RC Collins","year":"1989","unstructured":"Collins, R. C., Dobkin, B. H. & Choi, D. W. Selective vulnerability of the brain: new insights into the pathophysiology of stroke. Ann. Intern. Med. 110, 992\u20131000 (1989).","journal-title":"Ann. Intern. Med."},{"key":"BFnrneurol2013163_CR55","first-page":"339","volume":"48","author":"EA Huebner","year":"2009","unstructured":"Huebner, E. A. & Strittmatter, S. M. Axon regeneration in the peripheral and central nervous systems. Results Probl. Cell Differ. 48, 339\u2013351 (2009).","journal-title":"Results Probl. Cell Differ."},{"key":"BFnrneurol2013163_CR56","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1055\/s-2005-872810","volume":"36","author":"B Hoffmann","year":"2005","unstructured":"Hoffmann, B. & Mayatepek, E. Neurological manifestations in lysosomal storage disorders\u2014from pathology to first therapeutic possibilities. Neuropediatrics 36, 285\u2013289 (2005).","journal-title":"Neuropediatrics"},{"key":"BFnrneurol2013163_CR57","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1007\/s10545-008-1040-5","volume":"32","author":"SU Walkley","year":"2009","unstructured":"Walkley, S. U. Pathogenic cascades in lysosomal disease\u2014why so complex? J. Inherit. Metab. Dis. 32, 181\u2013189 (2009).","journal-title":"J. Inherit. Metab. Dis."},{"key":"BFnrneurol2013163_CR58","doi-asserted-by":"publisher","first-page":"54","DOI":"10.4103\/0022-3859.39196","volume":"54","author":"JC Suvarna","year":"2008","unstructured":"Suvarna, J. C. & Hajela, S. A. Cherry-red spot. J. Postgrad. Med. 54, 54\u201357 (2008).","journal-title":"J. Postgrad. Med."},{"key":"BFnrneurol2013163_CR59","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1006\/mgme.1999.2829","volume":"66","author":"DG Birch","year":"1999","unstructured":"Birch, D. G. Retinal degeneration in retinitis pigmentosa and neuronal ceroid lipofuscinosis: an overview. Mol. Genet. Metab. 66, 356\u2013366 (1999).","journal-title":"Mol. Genet. Metab."},{"key":"BFnrneurol2013163_CR60","first-page":"319","volume-title":"Retinal Dystrophies and Degenerations","author":"GE Lang","year":"1988","unstructured":"Lang, G. E. & Maumenee, I. H. in Retinal Dystrophies and Degenerations (ed. Newsome, D. A.) 319\u2013340 (Raven Press, 1988)."},{"key":"BFnrneurol2013163_CR61","doi-asserted-by":"publisher","unstructured":"Debs, R. et al. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. J. Inherit. Metab. Dis. http:\/\/dx.doi.org\/10.1007\/s10545-012-9560-4.","DOI":"10.1007\/s10545-012-9560-4"},{"key":"BFnrneurol2013163_CR62","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1212\/01.wnl.0000230156.01228.33","volume":"67","author":"ZA Siddiqi","year":"2006","unstructured":"Siddiqi, Z. A., Sanders, D. B. & Massey, J. M. Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem cell transplantation. Neurology 67, 268\u2013272 (2006).","journal-title":"Neurology"},{"key":"BFnrneurol2013163_CR63","doi-asserted-by":"publisher","first-page":"2069","DOI":"10.1056\/NEJMoa042604","volume":"352","author":"ML Escolar","year":"2005","unstructured":"Escolar, M. L. et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N. Engl. J. Med. 352, 2069\u20132081 (2005).","journal-title":"N. Engl. J. Med."},{"key":"BFnrneurol2013163_CR64","first-page":"881","volume-title":"The Metabolic Basis of Inherited Disease","author":"E Kolodny","year":"1983","unstructured":"Kolodny, E. & Moser, H. W. in The Metabolic Basis of Inherited Disease (eds Stanbury, J. B. et al.) 881\u2013905 (Mc-Graw-Hill, 1983)."},{"key":"BFnrneurol2013163_CR65","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/j.ymgme.2012.03.010","volume":"106","author":"M Biegstraaten","year":"2012","unstructured":"Biegstraaten, M. et al. Small fiber neuropathy in Fabry disease. Mol. Genet. Metab. 106, 135\u2013141 (2012).","journal-title":"Mol. Genet. Metab."},{"key":"BFnrneurol2013163_CR66","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1126\/science.2643164","volume":"243","author":"YA Hannun","year":"1989","unstructured":"Hannun, Y. A. & Bell, R. M. Functions of sphingolipids and sphingolipid breakdown products in cellular regulation. Science 243, 500\u2013507 (1989).","journal-title":"Science"},{"key":"BFnrneurol2013163_CR67","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1007\/s10545-008-0878-x","volume":"31","author":"S Al Sawaf","year":"2008","unstructured":"Al Sawaf, S., Mayatepek, E. & Hoffmann, B. Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. J. Inherit. Metab. Dis. 31, 473\u2013480 (2008).","journal-title":"J. Inherit. Metab. Dis."},{"key":"BFnrneurol2013163_CR68","unstructured":"Tuttolomondo, A. et al. Neurological complications of Anderson-Fabry disease. Curr. Pharm. Des. [Epub ahead of print]."},{"key":"BFnrneurol2013163_CR69","doi-asserted-by":"publisher","first-page":"327","DOI":"10.3171\/2012.11.PEDS11419","volume":"11","author":"\u00c2R Neto","year":"2013","unstructured":"Neto, \u00c2. R., Holanda, G. B., Farias, M. C., Santos da Costa, G. & Pereira, H. S. Hydrocephalus in mucopolysaccharidosis type VI successfully treated with endoscopic third ventriculostomy. J. Neurosurg. Pediatr. 11, 327\u2013330 (2013).","journal-title":"J. Neurosurg. Pediatr."},{"key":"BFnrneurol2013163_CR70","doi-asserted-by":"publisher","first-page":"178","DOI":"10.4103\/1658-354X.101211","volume":"6","author":"N Gupta","year":"2012","unstructured":"Gupta, N., Rath, G. P., Bala, R., Reddy, B. K. & Chaturvedi, A. Anesthetic management in children with Hurler's syndrome undergoing emergency ventriculoperitoneal shunt surgery. Saudi J. Anaesth. 6, 178\u2013180 (2012).","journal-title":"Saudi J. Anaesth."},{"key":"BFnrneurol2013163_CR71","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1007\/s10545-011-9317-5","volume":"34","author":"R Manara","year":"2011","unstructured":"Manara, R. et al. Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J. Inherit. Metab. Dis. 34, 763\u2013780 (2011).","journal-title":"J. Inherit. Metab. Dis."},{"key":"BFnrneurol2013163_CR72","doi-asserted-by":"publisher","first-page":"1476","DOI":"10.1227\/NEU.0b013e3181f8c11d","volume":"67","author":"H Aliabadi","year":"2010","unstructured":"Aliabadi, H. et al. Clinical outcome of cerebrospinal fluid shunting for communicating hydrocephalus in mucopolysaccharidoses I, II, and III: a retrospective analysis of 13 patients. Neurosurgery 67, 1476\u20131481 (2010).","journal-title":"Neurosurgery"},{"key":"BFnrneurol2013163_CR73","doi-asserted-by":"publisher","unstructured":"Palmucci, S. et al. Imaging findings of mucopolysaccharidoses: a pictorial review. Insights Imaging http:\/\/dx.doi.org\/10.1007\/s13244-013-0246-8.","DOI":"10.1007\/s13244-013-0246-8"},{"key":"BFnrneurol2013163_CR74","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1038\/nrn1725","volume":"6","author":"M Jeyakumar","year":"2005","unstructured":"Jeyakumar, M., Dwek, R. A., Butters, T. D. & Platt, F. M. Storage solutions: treating lysosomal disorders of the brain. Nat. Rev. Neurosci. 6, 713\u2013725 (2005).","journal-title":"Nat. Rev. Neurosci."},{"key":"BFnrneurol2013163_CR75","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1136\/bjo.84.5.451","volume":"84","author":"S Garbutt","year":"2000","unstructured":"Garbutt, S. & Harris, C. M. Abnormal vertical optokinetic nystagmus in infants and children. Br. J. Ophthalmol. 84, 451\u2013455 (2000).","journal-title":"Br. J. Ophthalmol."},{"key":"BFnrneurol2013163_CR76","doi-asserted-by":"publisher","first-page":"99","DOI":"10.3988\/jcn.2011.7.2.99","volume":"7","author":"MK Sunwoo","year":"2011","unstructured":"Sunwoo, M. K., Kim, S. M., Lee, S. & Lee, P. H. Parkinsonism associated with glucocerebrosidase mutation. J. Clin. Neurol. 7, 99\u2013101 (2011).","journal-title":"J. Clin. Neurol."},{"key":"BFnrneurol2013163_CR77","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1111\/j.1399-0004.2009.01179.x","volume":"76","author":"A Sarpong","year":"2009","unstructured":"Sarpong, A. et al. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). Clin. Genet. 76, 38\u201345 (2009).","journal-title":"Clin. Genet."},{"key":"BFnrneurol2013163_CR78","doi-asserted-by":"publisher","first-page":"23594","DOI":"10.1074\/jbc.M300212200","volume":"278","author":"E Lloyd-Evans","year":"2003","unstructured":"Lloyd-Evans, E. et al. Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms. J. Biol. Chem. 278, 23594\u201323599 (2003).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol2013163_CR79","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1016\/j.braindev.2012.08.004","volume":"35","author":"S Tokushige","year":"2013","unstructured":"Tokushige, S. et al. Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene. Brain Dev. 35, 579\u2013581 (2013).","journal-title":"Brain Dev."},{"key":"BFnrneurol2013163_CR80","doi-asserted-by":"publisher","first-page":"e20","DOI":"10.1212\/WNL.0b013e318225aaf5","volume":"77","author":"R Sehgal","year":"2011","unstructured":"Sehgal, R., Sharma, S., Sankhyan, N., Kumar, A. & Gulati, S. Selective corticospinal tract involvement in late-onset Krabbe disease. Neurology 77, e20 (2011).","journal-title":"Neurology"},{"key":"BFnrneurol2013163_CR81","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/j.pediatrneurol.2010.09.015","volume":"44","author":"M Kamate","year":"2011","unstructured":"Kamate, M. & Hattiholi, V. Predominant corticospinal tract involvement in early-onset Krabbe disease. Pediatr. Neurol. 44, 155\u2013156 (2011).","journal-title":"Pediatr. Neurol."},{"key":"BFnrneurol2013163_CR82","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1073\/pnas.0912937107","volume":"107","author":"CM Simonaro","year":"2010","unstructured":"Simonaro, C. M. et al. Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses. Proc. Natl Acad. Sci. USA 107, 222\u2013227 (2010).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrneurol2013163_CR83","doi-asserted-by":"publisher","first-page":"1879","DOI":"10.1523\/JNEUROSCI.5282-06.2007","volume":"27","author":"M Suzuki","year":"2007","unstructured":"Suzuki, M. et al. Endosomal accumulation of Toll-like receptor 4 causes constitutive secretion of cytokines and activation of signal transducers and activators of transcription in Niemann\u2013Pick disease type C (NPC) fibroblasts: a potential basis for glial cell activation in the NPC brain. J. Neurosci. 27, 1879\u20131891 (2007).","journal-title":"J. Neurosci."},{"key":"BFnrneurol2013163_CR84","doi-asserted-by":"publisher","first-page":"683","DOI":"10.1038\/sj.emboj.7600991","volume":"25","author":"H Husebye","year":"2006","unstructured":"Husebye, H. et al. Endocytic pathways regulate Toll-like receptor 4 signaling and link innate and adaptive immunity. EMBO J. 25, 683\u2013692 (2006).","journal-title":"EMBO J."},{"key":"BFnrneurol2013163_CR85","doi-asserted-by":"publisher","first-page":"5233","DOI":"10.4049\/jimmunol.168.10.5233","volume":"168","author":"GB Johnson","year":"2002","unstructured":"Johnson, G. B., Brunn, G. J., Kodaira, Y. & Platt, J. L. Receptor-mediated monitoring of tissue well-being via detection of soluble heparan sulfate by Toll-like receptor 4. J. Immunol. 168, 5233\u20135239 (2002).","journal-title":"J. Immunol."},{"key":"BFnrneurol2013163_CR86","doi-asserted-by":"publisher","first-page":"1956","DOI":"10.1182\/blood-2005-02-0657","volume":"106","author":"C Pan","year":"2005","unstructured":"Pan, C. et al. Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells. Blood 106, 1956\u20131964 (2005).","journal-title":"Blood"},{"key":"BFnrneurol2013163_CR87","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1006\/mgme.1999.2834","volume":"66","author":"KL Puranam","year":"1999","unstructured":"Puranam, K. L., Guo, W. X., Qian, W. H., Nikbakht, K. & Boustany, R. M. CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide. Mol. Genet. Metab. 66, 294\u2013308 (1999).","journal-title":"Mol. Genet. Metab."},{"key":"BFnrneurol2013163_CR88","doi-asserted-by":"publisher","first-page":"2129","DOI":"10.1093\/hmg\/11.18.2129","volume":"11","author":"DA Persaud-Sawin","year":"2002","unstructured":"Persaud-Sawin, D. A., VanDongen, A. & Boustany, R. M. Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis. Hum. Mol. Genet. 11, 2129\u20132142 (2002).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol2013163_CR89","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1203\/pdr.0b013e31802d8a4a","volume":"61","author":"DA Persaud-Sawin","year":"2007","unstructured":"Persaud-Sawin, D. A. et al. Neuronal ceroid lipofuscinosis: a common pathway? Pediatr. Res. 61, 146\u2013152 (2007).","journal-title":"Pediatr. Res."},{"key":"BFnrneurol2013163_CR90","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1038\/nrm1423","volume":"5","author":"AH Futerman","year":"2004","unstructured":"Futerman, A. H. & van Meer, G. The cell biology of lysosomal storage disorders. Nat. Rev. Mol. Cell Biol. 5, 554\u2013565 (2004).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"BFnrneurol2013163_CR91","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1016\/j.bbrc.2010.12.138","volume":"405","author":"MM Domon","year":"2011","unstructured":"Domon, M. M., Besson, F., Bandorowicz-Pikula, J. & Pikula, S. Annexin A6 is recruited into lipid rafts of Niemann\u2013Pick type C disease fibroblasts in a Ca2+-dependent manner. Biochem. Biophys. Res. Commun. 405, 192\u2013196 (2011).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFnrneurol2013163_CR92","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1042\/BJ20050460","volume":"391","author":"S Vainio","year":"2005","unstructured":"Vainio, S. et al. Defective insulin receptor activation and altered lipid rafts in Niemann\u2013Pick type C disease hepatocytes. Biochem. J. 391, 465\u2013472 (2005).","journal-title":"Biochem. J."},{"key":"BFnrneurol2013163_CR93","doi-asserted-by":"publisher","first-page":"26167","DOI":"10.1074\/jbc.M311591200","volume":"279","author":"D te Vruchte","year":"2004","unstructured":"te Vruchte, D. et al. Accumulation of glycosphingolipids in Niemann\u2013Pick C disease disrupts endosomal transport. J. Biol. Chem. 279, 26167\u201326175 (2004).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol2013163_CR94","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1016\/S0140-6736(98)10034-X","volume":"354","author":"CS Chen","year":"1999","unstructured":"Chen, C. S., Patterson, M. C., Wheatley, C. L., O'Brien, J. F. & Pagano, R. E. Broad screening test for sphingolipid-storage diseases. Lancet 354, 901\u2013905 (1999).","journal-title":"Lancet"},{"key":"BFnrneurol2013163_CR95","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1203\/PDR.0b013e31816fdc17","volume":"63","author":"E Rusyn","year":"2008","unstructured":"Rusyn, E., Mousallem, T., Persaud-Sawin, D. A., Miller, S. & Boustany, R. M. CLN3p impacts galactosylceramide transport, raft morphology, and lipid content. Pediatr. Res. 63, 625\u2013631 (2008).","journal-title":"Pediatr. Res."},{"key":"BFnrneurol2013163_CR96","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1007\/s10495-005-0733-6","volume":"10","author":"DA Persaud-Sawin","year":"2005","unstructured":"Persaud-Sawin, D. A. & Boustany, R. M. Cell death pathways in juvenile Batten disease. Apoptosis 10, 973\u2013985 (2005).","journal-title":"Apoptosis"},{"key":"BFnrneurol2013163_CR97","first-page":"54","volume-title":"13th International Conference on Neuronal Ceroid Lipofuscinosis (Batten Disease) & Patient Organisation Meeting","author":"H Harati","year":"2012","unstructured":"Harati, H., Haliw, L., Cotman, S. & Boustany, R. M. Galactosylceramide (GalCer) as a potential treatment for juvenile neuronal ceroid lipofuscinosis (JNCL) in 13th International Conference on Neuronal Ceroid Lipofuscinosis (Batten Disease) & Patient Organisation Meeting. 54 (London, 2012)."},{"key":"BFnrneurol2013163_CR98","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/S0006-291X(87)80472-2","volume":"144","author":"T Kobayashi","year":"1987","unstructured":"Kobayashi, T., Shinoda, H., Goto, I., Yamanaka, T. & Suzuki, Y. Globoid cell leukodystrophy is a generalized galactosylsphingosine (psychosine) storage disease. Biochem. Biophys. Res. Commun. 144, 41\u201346 (1987).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFnrneurol2013163_CR99","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1083\/jcb.149.4.943","volume":"149","author":"T Kanazawa","year":"2000","unstructured":"Kanazawa, T. et al. Inhibition of cytokinesis by a lipid metabolite, psychosine. J. Cell Biol. 149, 943\u2013950 (2000).","journal-title":"J. Cell Biol."},{"key":"BFnrneurol2013163_CR100","doi-asserted-by":"publisher","first-page":"1478","DOI":"10.1194\/jlr.M600084-JLR200","volume":"47","author":"S Giri","year":"2006","unstructured":"Giri, S., Khan, M., Rattan, R., Singh, I. & Singh, A. K. Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte cell death. J. Lipid Res. 47, 1478\u20131492 (2006).","journal-title":"J. Lipid Res."},{"key":"BFnrneurol2013163_CR101","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/j.neulet.2003.12.126","volume":"358","author":"M Zaka","year":"2004","unstructured":"Zaka, M. & Wenger, D. A. Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation. Neurosci. Lett. 358, 205\u2013209 (2004).","journal-title":"Neurosci. Lett."},{"key":"BFnrneurol2013163_CR102","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1016\/0005-2760(82)90272-7","volume":"712","author":"O Nilsson","year":"1982","unstructured":"Nilsson, O., M\u00e5nsson, J. E., H\u00e5kansson, G. & Svennerholm, L. The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease. Biochim. Biophys. Acta 712, 453\u2013463 (1982).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFnrneurol2013163_CR103","doi-asserted-by":"publisher","first-page":"1452","DOI":"10.1111\/j.1471-4159.1992.tb08460.x","volume":"59","author":"T Kobayashi","year":"1992","unstructured":"Kobayashi, T. et al. Accumulation of lysosphingolipids in tissues from patients with GM1 and GM2 gangliosidoses. J. Neurochem. 59, 1452\u20131458 (1992).","journal-title":"J. Neurochem."},{"key":"BFnrneurol2013163_CR104","doi-asserted-by":"publisher","first-page":"2812","DOI":"10.1073\/pnas.0712309105","volume":"105","author":"JM Aerts","year":"2008","unstructured":"Aerts, J. M. et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc. Natl Acad. Sci. USA 105, 2812\u20132817 (2008).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrneurol2013163_CR105","first-page":"1212","volume-title":"Hematology of Infancy and Childhood","author":"EH Kolodny","year":"1987","unstructured":"Kolodny, E. H. & Boustany, R. M. in Hematology of Infancy and Childhood (ed. Nathan, D. O.) 1212\u20131247 (W. B. Saunders, 1987)."},{"key":"BFnrneurol2013163_CR106","first-page":"1301","volume-title":"Nathan and Oski's Hematology of Infancy and Childhood","author":"A d'Azzo","year":"2009","unstructured":"d'Azzo, A., Kolodny, E., Bonten, E. & Annunziata, I. in Nathan and Oski's Hematology of Infancy and Childhood (eds Orkin, S. et al.) 1301\u20131422 (W. B. Saunders, Philadelphia, 2009)."},{"key":"BFnrneurol2013163_CR107","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1159\/000328989","volume":"33","author":"M Czeh","year":"2011","unstructured":"Czeh, M., Gressens, P. & Kaindl, A. M. The yin and yang of microglia. Dev. Neurosci. 33, 199\u2013209 (2011).","journal-title":"Dev. Neurosci."},{"key":"BFnrneurol2013163_CR108","doi-asserted-by":"publisher","first-page":"978","DOI":"10.1002\/jnr.21912","volume":"87","author":"J DiRosario","year":"2009","unstructured":"DiRosario, J. et al. Innate and adaptive immune activation in the brain of MPS IIIB mouse model. J. Neurosci. Res. 87, 978\u2013990 (2009).","journal-title":"J. Neurosci. Res."},{"key":"BFnrneurol2013163_CR109","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1016\/j.jneuroim.2010.08.024","volume":"230","author":"SS Seehafer","year":"2011","unstructured":"Seehafer, S. S. et al. Immunosuppression alters disease severity in juvenile Batten disease mice. J. Neuroimmunol. 230, 169\u2013172 (2011).","journal-title":"J. Neuroimmunol."},{"key":"BFnrneurol2013163_CR110","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/j.nbd.2004.09.004","volume":"18","author":"D Pelled","year":"2005","unstructured":"Pelled, D. et al. Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol. Dis. 18, 83\u201388 (2005).","journal-title":"Neurobiol. Dis."},{"key":"BFnrneurol2013163_CR111","doi-asserted-by":"publisher","first-page":"21673","DOI":"10.1074\/jbc.274.31.21673","volume":"274","author":"E Korkotian","year":"1999","unstructured":"Korkotian, E. et al. Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons. J. Biol. Chem. 274, 21673\u201321678 (1999).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol2013163_CR112","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1111\/j.1471-4159.2007.04983.x","volume":"104","author":"L Ginzburg","year":"2008","unstructured":"Ginzburg, L., Li, S. C., Li, Y. T. & Futerman, A. H. An exposed carboxyl group on sialic acid is essential for gangliosides to inhibit calcium uptake via the sarco\/endoplasmic reticulum Ca2+-ATPase: relevance to gangliosidoses. J. Neurochem. 104, 140\u2013146 (2008).","journal-title":"J. Neurochem."},{"key":"BFnrneurol2013163_CR113","doi-asserted-by":"publisher","first-page":"29496","DOI":"10.1074\/jbc.M302964200","volume":"278","author":"D Pelled","year":"2003","unstructured":"Pelled, D. et al. Inhibition of calcium uptake via the sarco\/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin. J. Biol. Chem. 278, 29496\u201329501 (2003).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol2013163_CR114","doi-asserted-by":"publisher","first-page":"1619","DOI":"10.1111\/j.1471-4159.2005.03534.x","volume":"95","author":"L Ginzburg","year":"2005","unstructured":"Ginzburg, L. & Futerman, A. H. Defective calcium homeostasis in the cerebellum in a mouse model of Niemann\u2013Pick A disease. J. Neurochem. 95, 1619\u20131628 (2005).","journal-title":"J. Neurochem."},{"key":"BFnrneurol2013163_CR115","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1016\/j.molcel.2004.08.029","volume":"15","author":"A Tessitore","year":"2004","unstructured":"Tessitore, A. et al. GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis. Mol. Cell 15, 753\u2013766 (2004).","journal-title":"Mol. Cell"},{"key":"BFnrneurol2013163_CR116","doi-asserted-by":"publisher","first-page":"1826","DOI":"10.1093\/hmg\/ddl105","volume":"15","author":"SJ Kim","year":"2006","unstructured":"Kim, S. J., Zhang, Z., Hitomi, E., Lee, Y. C. & Mukherjee, A. B. Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL. Hum. Mol. Genet. 15, 1826\u20131834 (2006).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol2013163_CR117","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1055\/s-2007-973664","volume":"28","author":"K Puranam","year":"1997","unstructured":"Puranam, K. et al. Upregulation of Bcl-2 and elevation of ceramide in Batten disease. Neuropediatrics 28, 37\u201341 (1997).","journal-title":"Neuropediatrics"},{"key":"BFnrneurol2013163_CR118","doi-asserted-by":"publisher","first-page":"1580","DOI":"10.1093\/hmg\/ddl078","volume":"15","author":"SJ Kim","year":"2006","unstructured":"Kim, S. J., Zhang, Z., Lee, Y. C. & Mukherjee, A. B. Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL. Hum. Mol. Genet. 15, 1580\u20131586 (2006).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol2013163_CR119","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1002\/ana.10143","volume":"51","author":"S Dhar","year":"2002","unstructured":"Dhar, S. et al. Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons. Ann. Neurol. 51, 448\u2013466 (2002).","journal-title":"Ann. Neurol."},{"key":"BFnrneurol2013163_CR120","doi-asserted-by":"publisher","unstructured":"Zheng, Z. et al. Downregulated adaptor protein p66Shc mitigates autophagy process by low nutrient and enhances apoptotic resistance in human lung adenocarcinoma A549 cells. FEBS J. http:\/\/dx.doi.org\/10.1111\/febs.12416.","DOI":"10.1111\/febs.12416"},{"key":"BFnrneurol2013163_CR121","doi-asserted-by":"publisher","unstructured":"B'chir, W. et al. The eIF2\u03b1\/ATF4 pathway is essential for stress-induced autophagy gene expression. Nucleic Acids Res. http:\/\/dx.doi.org\/10.1093\/nar\/gkt563.","DOI":"10.1093\/nar\/gkt563"},{"key":"BFnrneurol2013163_CR122","doi-asserted-by":"publisher","first-page":"102735","DOI":"10.1155\/2013\/102735","volume":"2013","author":"M Su","year":"2013","unstructured":"Su, M., Mei, Y. & Sinha, S. Role of the crosstalk between autophagy and apoptosis in cancer. J. Oncol. 2013, 102735 (2013).","journal-title":"J. Oncol."},{"key":"BFnrneurol2013163_CR123","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.bbapap.2011.07.003","volume":"1824","author":"S M\u00fcller","year":"2012","unstructured":"M\u00fcller, S., Dennem\u00e4rker, J. & Reinheckel, T. Specific functions of lysosomal proteases in endocytic and autophagic pathways. Biochim. Biophys. Acta 1824, 34\u201343 (2012).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFnrneurol2013163_CR124","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1038\/nrm2239","volume":"8","author":"MC Maiuri","year":"2007","unstructured":"Maiuri, M. C., Zalckvar, E., Kimchi, A. & Kroemer, G. Self-eating and self-killing: crosstalk between autophagy and apoptosis. Nat. Rev. Mol. Cell Biol. 8, 741\u2013752 (2007).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"BFnrneurol2013163_CR125","first-page":"45","volume":"26","author":"N Raben","year":"2007","unstructured":"Raben, N., Roberts, A. & Plotz, P. H. Role of autophagy in the pathogenesis of Pompe disease. Acta Myol. 26, 45\u201348 (2007).","journal-title":"Acta Myol."},{"key":"BFnrneurol2013163_CR126","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1016\/j.bbapap.2011.05.011","volume":"1824","author":"VE Alvarez","year":"2012","unstructured":"Alvarez, V. E., Niemirowicz, G. T. & Cazzulo, J. J. The peptidases of Trypanosoma cruzi: digestive enzymes, virulence factors, and mediators of autophagy and programmed cell death. Biochim. Biophys. Acta 1824, 195\u2013206 (2012).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFnrneurol2013163_CR127","doi-asserted-by":"publisher","first-page":"487","DOI":"10.4161\/auto.4586","volume":"3","author":"CD Pacheco","year":"2007","unstructured":"Pacheco, C. D. & Lieberman, A. P. Lipid trafficking defects increase Beclin-1 and activate autophagy in Niemann\u2013Pick type C disease. Autophagy 3, 487\u2013489 (2007).","journal-title":"Autophagy"},{"key":"BFnrneurol2013163_CR128","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1111\/j.1471-4159.2010.07158.x","volume":"116","author":"JW Chang","year":"2011","unstructured":"Chang, J. W., Choi, H., Cotman, S. L. & Jung, Y. K. Lithium rescues the impaired autophagy process in CbCln3\u0394ex7\/8\/\u0394ex7\/8 cerebellar cells and reduces neuronal vulnerability to cell death via IMPase inhibition. J. Neurochem. 116, 659\u2013668 (2011).","journal-title":"J. Neurochem."},{"key":"BFnrneurol2013163_CR129","doi-asserted-by":"publisher","first-page":"113","DOI":"10.4161\/auto.5227","volume":"4","author":"C Settembre","year":"2008","unstructured":"Settembre, C., Fraldi, A., Rubinsztein, D. C. & Ballabio, A. Lysosomal storage diseases as disorders of autophagy. Autophagy 4, 113\u2013114 (2008).","journal-title":"Autophagy"},{"key":"BFnrneurol2013163_CR130","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2013)."},{"key":"BFnrneurol2013163_CR131","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2013)."},{"key":"BFnrneurol2013163_CR132","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2013)."},{"key":"BFnrneurol2013163_CR133","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2012)."},{"key":"BFnrneurol2013163_CR134","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2012)."},{"key":"BFnrneurol2013163_CR135","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2013)."},{"key":"BFnrneurol2013163_CR136","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2012)."},{"key":"BFnrneurol2013163_CR137","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2012)."},{"key":"BFnrneurol2013163_CR138","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2013)."},{"key":"BFnrneurol2013163_CR139","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1007\/4-431-34200-1","volume-title":"Sphingolipid Biology","author":"Y Hirabayashi","year":"2006","unstructured":"Hirabayashi, Y., Merrill, A. H. Jr & Shayman, J. A. in Sphingolipid Biology (eds Hirabayashi, Y. et al.) 83\u201394 (Springer, 2006)."},{"issue":"Suppl. 5","key":"BFnrneurol2013163_CR140","doi-asserted-by":"publisher","first-page":"v49","DOI":"10.1093\/rheumatology\/ker396","volume":"50","author":"V Valayannopoulos","year":"2011","unstructured":"Valayannopoulos, V. & Wijburg, F. A. Therapy for the mucopolysaccharidoses. Rheumatology (Oxford) 50 (Suppl. 5), v49\u2013v59 (2011).","journal-title":"Rheumatology (Oxford)"},{"key":"BFnrneurol2013163_CR141","doi-asserted-by":"publisher","first-page":"91","DOI":"10.2174\/15748898113089990002","volume":"8","author":"L Urbanelli","year":"2013","unstructured":"Urbanelli, L. et al. Therapeutic approaches for lysosomal storage diseases: a patent update. Recent Pat. CNS Drug Discov. 8, 91\u2013109 (2013).","journal-title":"Recent Pat. CNS Drug Discov."},{"key":"BFnrneurol2013163_CR142","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1111\/j.1651-2227.2008.00656.x","volume":"97","author":"FM Platt","year":"2008","unstructured":"Platt, F. M. & Jeyakumar, M. Substrate reduction therapy. Acta Paediatr. Suppl. 97, 88\u201393 (2008).","journal-title":"Acta Paediatr. Suppl."},{"key":"BFnrneurol2013163_CR143","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1016\/j.ymgme.2009.06.005","volume":"98","author":"GH Maegawa","year":"2009","unstructured":"Maegawa, G. H. et al. Substrate reduction therapy in juvenile GM2 gangliosidosis. Mol. Genet. Metab. 98, 215\u2013224 (2009).","journal-title":"Mol. Genet. Metab."},{"key":"BFnrneurol2013163_CR144","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1097\/GIM.0b013e3181a1b5c5","volume":"11","author":"BE Shapiro","year":"2009","unstructured":"Shapiro, B. E., Pastores, G. M., Gianutsos, J., Luzy, C. & Kolodny, E. H. Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet. Med. 11, 425\u2013433 (2009).","journal-title":"Genet. Med."},{"key":"BFnrneurol2013163_CR145","doi-asserted-by":"publisher","first-page":"e57631","DOI":"10.1371\/journal.pone.0057631","volume":"8","author":"B Young-Gqamana","year":"2013","unstructured":"Young-Gqamana, B. et al. Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients. PLoS ONE 8, e57631 (2013).","journal-title":"PLoS ONE"},{"key":"BFnrneurol2013163_CR146","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2012)."},{"key":"BFnrneurol2013163_CR147","doi-asserted-by":"publisher","first-page":"4095","DOI":"10.1182\/blood-2010-06-293902","volume":"116","author":"E Lukina","year":"2010","unstructured":"Lukina, E. et al. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. Blood 116, 4095\u20134098 (2010).","journal-title":"Blood"},{"key":"BFnrneurol2013163_CR148","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1002\/cmdc.200800350","volume":"4","author":"JS Rountree","year":"2009","unstructured":"Rountree, J. S. et al. Design, synthesis, and biological evaluation of enantiomeric \u03b2-N-acetylhexosaminidase inhibitors LABNAc and DABNAc as potential agents against Tay-Sachs and Sandhoff disease. ChemMedChem 4, 378\u2013392 (2009).","journal-title":"ChemMedChem"},{"key":"BFnrneurol2013163_CR149","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1093\/glycob\/cwp183","volume":"20","author":"MB Tropak","year":"2010","unstructured":"Tropak, M. B. et al. A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates. Glycobiology 20, 356\u2013365 (2010).","journal-title":"Glycobiology"},{"key":"BFnrneurol2013163_CR150","doi-asserted-by":"publisher","first-page":"e879","DOI":"10.1542\/peds.2006-0747","volume":"118","author":"ML Escolar","year":"2006","unstructured":"Escolar, M. L., Poe, M. D., Martin, H. R. & Kurtzberg, J. A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics 118, e879\u2013e889 (2006).","journal-title":"Pediatrics"},{"key":"BFnrneurol2013163_CR151","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1186\/1750-1172-6-55","volume":"6","author":"MH de Ru","year":"2011","unstructured":"de Ru, M. H. et al. Enzyme replacement therapy and\/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J. Rare Dis. 6, 55 (2011).","journal-title":"Orphanet J. Rare Dis."},{"key":"BFnrneurol2013163_CR152","doi-asserted-by":"publisher","first-page":"867","DOI":"10.2174\/138920111795542633","volume":"12","author":"R Kohan","year":"2011","unstructured":"Kohan, R. et al. Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. Curr. Pharm. Biotechnol. 12, 867\u2013883 (2011).","journal-title":"Curr. Pharm. Biotechnol."},{"key":"BFnrneurol2013163_CR153","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1212\/01.wnl.0000267885.47092.40","volume":"69","author":"S Worgall","year":"2007","unstructured":"Worgall, S. et al. Neurological deterioration in late infantile neuronal ceroid lipofuscinosis. Neurology 69, 521\u2013535 (2007).","journal-title":"Neurology"},{"key":"BFnrneurol2013163_CR154","doi-asserted-by":"publisher","first-page":"1131","DOI":"10.1089\/hum.2004.15.1131","volume":"15","author":"RG Crystal","year":"2004","unstructured":"Crystal, R. G. et al. Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis. Hum. Gene Ther. 15, 1131\u20131154 (2004).","journal-title":"Hum. Gene Ther."},{"key":"BFnrneurol2013163_CR155","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1016\/j.ymthe.2006.01.006","volume":"13","author":"MS Sands","year":"2006","unstructured":"Sands, M. S. & Davidson, B. L. Gene therapy for lysosomal storage diseases. Mol. Ther. 13, 839\u2013849 (2006).","journal-title":"Mol. Ther."},{"key":"BFnrneurol2013163_CR156","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2013)."},{"key":"BFnrneurol2013163_CR157","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2012)."},{"key":"BFnrneurol2013163_CR158","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2013)."},{"key":"BFnrneurol2013163_CR159","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/j.molmed.2006.06.001","volume":"12","author":"DA Brooks","year":"2006","unstructured":"Brooks, D. A., Muller, V. J. & Hopwood, J. J. Stop-codon read-through for patients affected by a lysosomal storage disorder. Trends Mol. Med. 12, 367\u2013373 (2006).","journal-title":"Trends Mol. Med."},{"key":"BFnrneurol2013163_CR160","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1038\/86554","volume":"7","author":"Z Zhang","year":"2001","unstructured":"Zhang, Z. et al. Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood. Nat. Med. 7, 478\u2013484 (2001).","journal-title":"Nat. Med."},{"key":"BFnrneurol2013163_CR161","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1038\/sj.mt.6300112","volume":"15","author":"X Ma","year":"2007","unstructured":"Ma, X. et al. Improvements in mucopolysaccharidosis I mice after adult retroviral vector-mediated gene therapy with immunomodulation. Mol. Ther. 15, 889\u2013902 (2007).","journal-title":"Mol. Ther."},{"key":"BFnrneurol2013163_CR162","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1186\/1423-0127-16-26","volume":"16","author":"J Jak\u00f3bkiewicz-Banecka","year":"2009","unstructured":"Jak\u00f3bkiewicz-Banecka, J., Piotrowska, E., Narajczyk, M., Baran\u00b4ska, S. & Wegrzyn, G. Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway. J. Biomed. Sci. 16, 26 (2009).","journal-title":"J. Biomed. Sci."},{"key":"BFnrneurol2013163_CR163","doi-asserted-by":"publisher","first-page":"39349","DOI":"10.1074\/jbc.M112.357707","volume":"287","author":"M Xu","year":"2012","unstructured":"Xu, M. et al. \u03b4-Tocopherol reduces lipid accumulation in Niemann\u2013Pick type C1 and Wolman cholesterol storage disorders. J. Biol. Chem. 287, 39349\u201339360 (2012).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol2013163_CR164","doi-asserted-by":"publisher","first-page":"1541","DOI":"10.1172\/JCI0215420","volume":"109","author":"A Choudhury","year":"2002","unstructured":"Choudhury, A. et al. Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann\u2013Pick C cells. J. Clin. Invest. 109, 1541\u20131550 (2002).","journal-title":"J. Clin. Invest."},{"key":"BFnrneurol2013163_CR165","doi-asserted-by":"publisher","first-page":"e6951","DOI":"10.1371\/journal.pone.0006951","volume":"4","author":"CD Davidson","year":"2009","unstructured":"Davidson, C. D. et al. Chronic cyclodextrin treatment of murine Niemann\u2013Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS ONE 4, e6951 (2009).","journal-title":"PLoS ONE"},{"key":"BFnrneurol2013163_CR166","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1038\/nature08710","volume":"463","author":"T Kirkegaard","year":"2010","unstructured":"Kirkegaard, T. et al. Hsp70 stabilizes lysosomes and reverts Niemann\u2013Pick disease-associated lysosomal pathology. Nature 463, 549\u2013553 (2010).","journal-title":"Nature"},{"key":"BFnrneurol2013163_CR167","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1124\/dmd.111.042903","volume":"40","author":"QH Zhou","year":"2012","unstructured":"Zhou, Q. H., Boado, R. J., Lu, J. Z., Hui, E. K. & Pardridge, W. M. Brain-penetrating IgG-iduronate 2-sulfatase fusion protein for the mouse. Drug Metab. Dispos. 40, 329\u2013335 (2012).","journal-title":"Drug Metab. Dispos."},{"key":"BFnrneurol2013163_CR168","doi-asserted-by":"publisher","first-page":"1428","DOI":"10.1074\/jbc.M112.438663","volume":"288","author":"JA Maga","year":"2013","unstructured":"Maga, J. A. et al. Glycosylation-independent lysosomal targeting of acid alpha-glucosidase enhances muscle glycogen clearance in pompe mice. J. Biol. Chem. 288, 1428\u20131438 (2013).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol2013163_CR169","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1016\/j.ymgme.2008.01.007","volume":"94","author":"AM Montano","year":"2008","unstructured":"Montano, A. M. et al. Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice. Mol. Genet. Metab. 94, 178\u2013189 (2008).","journal-title":"Mol. Genet. Metab."},{"key":"BFnrneurol2013163_CR170","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1016\/S0002-9440(10)61253-9","volume":"167","author":"M Koike","year":"2005","unstructured":"Koike, M. et al. Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). Am. J. Pathol. 167, 1713\u20131728 (2005).","journal-title":"Am. J. Pathol."},{"key":"BFnrneurol2013163_CR171","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.bbapap.2011.08.016","volume":"1824","author":"U Repnik","year":"2012","unstructured":"Repnik, U., Stoka, V., Turk, V. & Turk, B. Lysosomes and lysosomal cathepsins in cell death. Biochim. Biophys. Acta 1824, 22\u201333 (2012).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFnrneurol2013163_CR172","doi-asserted-by":"publisher","first-page":"1191","DOI":"10.1542\/peds.2008-0635","volume":"123","author":"O Staretz-Chacham","year":"2009","unstructured":"Staretz-Chacham, O., Lang, T. C., LaMarca, M. E., Krasnewich, D. & Sidransky, E. Lysosomal storage disorders in the newborn. Pediatrics 123, 1191\u20131207 (2009).","journal-title":"Pediatrics"},{"key":"BFnrneurol2013163_CR173","doi-asserted-by":"publisher","first-page":"1417","DOI":"10.1093\/hmg\/dds558","volume":"22","author":"KR Smith","year":"2013","unstructured":"Smith, K. R. et al. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum. Mol. Genet. 22, 1417\u20131423 (2013).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol2013163_CR174","unstructured":"US National Library of Medicine. ClinicalTrials.gov [online], (2013)."},{"key":"BFnrneurol2013163_CR175","doi-asserted-by":"publisher","first-page":"38922","DOI":"10.1074\/jbc.M112.365148","volume":"287","author":"A Ghosh","year":"2012","unstructured":"Ghosh, A., Corbett, G. T., Gonzalez, F. J. & Pahan, K. Gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor \u03b1: implications for late infantile Batten disease therapy. J. Biol. Chem. 287, 38922\u201338935 (2012).","journal-title":"J. Biol. Chem."},{"key":"BFnrneurol2013163_CR176","doi-asserted-by":"publisher","first-page":"2723","DOI":"10.1093\/hmg\/ddt120","volume":"22","author":"JN Miller","year":"2013","unstructured":"Miller, J. N., Chan, C. H. & Pearce, D. A. The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. Hum. Mol. Genet. 22, 2723\u20132734 (2013).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrneurol2013163_CR177","doi-asserted-by":"publisher","first-page":"e22447","DOI":"10.1371\/journal.pone.0022447","volume":"6","author":"E Eliyahu","year":"2011","unstructured":"Eliyahu, E. et al. Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI. PLoS ONE 6, e22447 (2011).","journal-title":"PLoS ONE"},{"key":"BFnrneurol2013163_CR178","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1016\/j.ymgme.2011.12.012","volume":"105","author":"MF Coutinho","year":"2012","unstructured":"Coutinho, M. F., Prata, M. J. & Alves, S. Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction. Mol. Genet. Metab. 105, 542\u2013550 (2012).","journal-title":"Mol. Genet. Metab."},{"key":"BFnrneurol2013163_CR179","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/j.ymgme.2011.02.006","volume":"103","author":"DD Koeberl","year":"2011","unstructured":"Koeberl, D. D. et al. Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle. Mol. Genet. Metab. 103, 107\u2013112 (2011).","journal-title":"Mol. Genet. Metab."},{"key":"BFnrneurol2013163_CR180","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1096\/fj.12-207472","volume":"27","author":"S Li","year":"2013","unstructured":"Li, S. et al. Adjunctive \u03b22-agonists reverse neuromuscular involvement in murine Pompe disease. FASEB J. 27, 34\u201344 (2013).","journal-title":"FASEB J."},{"key":"BFnrneurol2013163_CR181","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1038\/gim.2011.4","volume":"14","author":"YH Messinger","year":"2012","unstructured":"Messinger, Y. H. et al. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet. Med. 14, 135\u2013142 (2012).","journal-title":"Genet. Med."},{"key":"BFnrneurol2013163_CR182","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1016\/j.ymgme.2011.08.003","volume":"104","author":"MA Abbott","year":"2011","unstructured":"Abbott, M. A. et al. Atypical immunologic response in a patient with CRIM-negative Pompe disease. Mol. Genet. Metab. 104, 583\u2013586 (2011).","journal-title":"Mol. Genet. Metab."},{"key":"BFnrneurol2013163_CR183","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1111\/j.1365-2141.2004.05351.x","volume":"129","author":"M Jmoudiak","year":"2005","unstructured":"Jmoudiak, M. & Futerman, A. H. Gaucher disease: pathological mechanisms and modern management. Br. J. Haematol. 129, 178\u2013188 (2005).","journal-title":"Br. J. Haematol."},{"key":"BFnrneurol2013163_CR184","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1111\/j.1750-3639.1998.tb00141.x","volume":"8","author":"BD Lake","year":"1998","unstructured":"Lake, B. D., Young, E. P. & Winchester, B. G. Prenatal diagnosis of lysosomal storage diseases. Brain Pathol. 8, 133\u2013149 (1998).","journal-title":"Brain Pathol."},{"key":"BFnrneurol2013163_CR185","unstructured":"Summary of Gaucher Disease Patient Prioritization For Treatment Recommendations From The Meeting Of Gaucher Treatment Experts, September 9th, 2009, Chicago, IL, USA. Gaucher Disease Organization [online] (2009)."},{"key":"BFnrneurol2013163_CR186","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1146\/annurev.med.57.110104.115650","volume":"57","author":"RO Brady","year":"2006","unstructured":"Brady, R. O. Enzyme replacement for lysosomal diseases. Annu. Rev. Med. 57, 283\u2013296 (2006).","journal-title":"Annu. Rev. Med."},{"key":"BFnrneurol2013163_CR187","doi-asserted-by":"publisher","first-page":"3","DOI":"10.3912\/OJIN.Vol13No01Man03","volume":"13","author":"L Bailey","year":"2008","unstructured":"Bailey, L. An overview of enzyme replacement therapy for lysosomal storage diseases. Online J. Issues Nurs. 13, manuscript 3 (2008).","journal-title":"Online J. Issues Nurs."},{"key":"BFnrneurol2013163_CR188","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1023\/A:1006992704108","volume":"19","author":"WX Guo","year":"1999","unstructured":"Guo, W. X., Mao, C., Obeid, L. M. & Boustany, R. M. A disrupted homologue of the human CLN3 or juvenile neuronal ceroid lipofuscinosis gene in Saccharomyces cerevisiae: a model to study Batten disease. Cell. Mol. Neurobiol. 19, 671\u2013680 (1999).","journal-title":"Cell. Mol. Neurobiol."},{"key":"BFnrneurol2013163_CR189","doi-asserted-by":"publisher","first-page":"6418","DOI":"10.1128\/JB.182.22.6418-6423.2000","volume":"182","author":"S Chattopadhyay","year":"2000","unstructured":"Chattopadhyay, S., Muzaffar, N. E., Sherman, F. & Pearce, D. A. The yeast model for batten disease: mutations in btn1, btn2, and hsp30 alter pH homeostasis. J. Bacteriol. 182, 6418\u20136423 (2000).","journal-title":"J. Bacteriol."},{"key":"BFnrneurol2013163_CR190","volume-title":"Emery and Rimoin's Principles and Practice of Medical Genetics","author":"RM Boustany","year":"2013","unstructured":"Boustany, R. M., Shareef, I. & El-Haddad, S. in Emery and Rimoin's Principles and Practice of Medical Genetics Ch. 109 (Elsevier, 2013)."},{"key":"BFnrneurol2013163_CR191","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1186\/gm220","volume":"3","author":"C Auffray","year":"2011","unstructured":"Auffray, C. et al. Genome Medicine: past, present and future. Genome Med. 3, 6 (2011).","journal-title":"Genome Med."},{"key":"BFnrneurol2013163_CR192","volume-title":"Centers for Disease Control and Prevention","author":"MJ Khoury","year":"2013","unstructured":"Khoury, M. J. Public health genomics: 15 years on. Centers for Disease Control and Prevention [online], (2013)."},{"key":"BFnrneurol2013163_CR193","doi-asserted-by":"publisher","first-page":"e26741","DOI":"10.1371\/journal.pone.0026741","volume":"6","author":"BA Benitez","year":"2011","unstructured":"Benitez, B. A. et al. Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. PLoS ONE 6, e26741 (2011).","journal-title":"PLoS ONE"},{"key":"BFnrneurol2013163_CR194","doi-asserted-by":"publisher","first-page":"1102","DOI":"10.1016\/j.ajhg.2012.04.021","volume":"90","author":"KR Smith","year":"2012","unstructured":"Smith, K. R. et al. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage Am. J. Hum. Genet. 90, 1102\u20131107 (2012).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrneurol2013163_CR195","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1016\/j.ajhg.2012.05.023","volume":"91","author":"JF Staropoli","year":"2012","unstructured":"Staropoli, J. F. et al. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am. J. Hum. Genet. 91, 202\u2013208 (2012).","journal-title":"Am. J. Hum. Genet."}],"container-title":["Nature Reviews Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/nrneurol.2013.163.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/nrneurol.2013.163","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/nrneurol.2013.163.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,16]],"date-time":"2024-05-16T12:36:45Z","timestamp":1715863005000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nrneurol.2013.163"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,13]]},"references-count":195,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["BFnrneurol2013163"],"URL":"https:\/\/doi.org\/10.1038\/nrneurol.2013.163","relation":{},"ISSN":["1759-4758","1759-4766"],"issn-type":[{"value":"1759-4758","type":"print"},{"value":"1759-4766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,13]]},"assertion":[{"value":"13 August 2013","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"R. N. Boustany is an inventor on the following US patent applications: 8,003,327 (methods of screening for risk of proliferative disease and methods for the treatment of proliferative disease); 6,821,995 (a method of treating Batten disease); and 8,242,086 (methods and compositions for treating disorders caused by deficiency in a gene product of a <i>CLN<\/i> gene).","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}