{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T21:19:18Z","timestamp":1773868758828,"version":"3.50.1"},"reference-count":145,"publisher":"Oxford University Press (OUP)","issue":"R1","license":[{"start":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T00:00:00Z","timestamp":1565049600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lysosomal storage diseases (LSDs) are a group of 70 monogenic disorders characterized by the lysosomal accumulation of a substrate. As a group, LSDs affect ~1 in 5000 live births; however, each individual storage disease is rare, limiting the ability to perform natural history studies or to perform clinical trials. Perhaps in no other biomedical field have naturally occurring large animal (canine, feline, ovine, caprine, and bovine) models been so essential for understanding the fundamentals of disease pathogenesis and for developing safe and effective therapies. These models were critical for the development of hematopoietic stem cell transplantation in \u03b1- and \u03b2- mannosidosis, fucosidosis, and the mucopolysaccharidoses; enzyme replacement therapy for fucosidosis, the mucopolysaccharidoses, and neuronal ceroid lipofuscinosis; and small molecule therapy in Niemann\u2013Pick type C disease. However, their most notable contributions to the biomedical field are in the development of gene therapy for LSDs. Adeno-associated viral vectors to treat nervous system disease have been evaluated in the large animal models of \u03b1-mannosidosis, globoid cell leukodystrophy, GM1 and GM2 gangliosidosis, the mucopolysaccharidoses, and neuronal ceroid lipofuscinosis. This review article will summarize the large animal models available for study as well as their contributions to the development of central and peripheral nervous system dysfunction in LSDs.<\/jats:p>","DOI":"10.1093\/hmg\/ddz127","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T19:09:59Z","timestamp":1564772999000},"page":"R119-R131","source":"Crossref","is-referenced-by-count":27,"title":["Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases"],"prefix":"10.1093","volume":"28","author":[{"given":"Brittney L","family":"Gurda","sequence":"first","affiliation":[{"name":"Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles H","family":"Vite","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2019,8,6]]},"reference":[{"key":"2020071700044960300_ref1","article-title":"Lysosomal storage diseases","volume":"2","author":"Ferreira","year":"2017","journal-title":"Transl. Sci. Rare Dis."},{"key":"2020071700044960300_ref2","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/s41572-018-0025-4","article-title":"Lysosomal storage diseases","volume":"4","author":"Platt","year":"2018","journal-title":"Nat. Rev. Dis. Primers"},{"key":"2020071700044960300_ref3","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"key":"2020071700044960300_ref4","first-page":"417","article-title":"Canine and feline models of human genetic diseases and their contributions to advancing clinical therapies","volume":"90","author":"Gurda","year":"2017","journal-title":"Yale J. Biol. Med."},{"key":"2020071700044960300_ref5","volume-title":"Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis","author":"Thomas","year":"2014"},{"key":"2020071700044960300_ref6","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1093\/jnen\/60.8.817","article-title":"Histopathology, electrodiagnostic testing, and magnetic resonance imaging show significant peripheral and central nervous system myelin abnormalities in the cat model of alpha-mannosidosis","volume":"60","author":"Vite","year":"2001","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"2020071700044960300_ref7","doi-asserted-by":"crossref","first-page":"2970","DOI":"10.1073\/pnas.91.8.2970","article-title":"Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease","volume":"91","author":"Walkley","year":"1994","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2020071700044960300_ref8","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/ana.20392","article-title":"Effective gene therapy for an inherited CNS disease in a large animal model","volume":"57","author":"Vite","year":"2005","journal-title":"Ann. Neurol."},{"key":"2020071700044960300_ref9","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1038\/mt.2015.168","article-title":"Clinical improvement of alpha-mannosidosis cat following a single cisterna magna infusion of AAV1","volume":"24","author":"Yoon","year":"2016","journal-title":"Mol. Ther."},{"key":"2020071700044960300_ref10","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1002\/nbm.1430","article-title":"Magnetic resonance spectroscopy of the occipital cortex and the cerebellar vermis distinguishes individual cats affected with alpha-mannosidosis from normal cats","volume":"23","author":"Magnitsky","year":"2010","journal-title":"NMR Biomed."},{"key":"2020071700044960300_ref11","doi-asserted-by":"crossref","first-page":"308","DOI":"10.3174\/ajnr.A0791","article-title":"Apparent diffusion coefficient reveals gray and white matter disease, and T2 mapping detects white matter disease in the brain in feline alpha-mannosidosis","volume":"29","author":"Vite","year":"2008","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"2020071700044960300_ref12","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1093\/jnen\/nlv007","article-title":"Diffusion tensor imaging for assessing brain gray and white matter abnormalities in a feline model of alpha-mannosidosis","volume":"75","author":"Kumar","year":"2016","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"2020071700044960300_ref13","doi-asserted-by":"crossref","first-page":"5185","DOI":"10.1016\/S0021-9258(19)69384-1","article-title":"Caprine beta-mannosidosis. Inherited deficiency of beta-d-mannosidase","volume":"256","author":"Jones","year":"1981","journal-title":"J. Biol. Chem."},{"key":"2020071700044960300_ref14","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1056\/NEJM198611063151906","article-title":"Human beta-mannosidase deficiency","volume":"315","author":"Wenger","year":"1986","journal-title":"N. Engl. J. Med."},{"key":"2020071700044960300_ref15","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1002\/glia.440030309","article-title":"Investigation of dysmyelinogenesis in caprine beta-mannosidosis: in vitro characterization of oligodendrocytes","volume":"3","author":"Boyer","year":"1990","journal-title":"Glia"},{"key":"2020071700044960300_ref16","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1159\/000053873","article-title":"In utero hematopoietic stem cell transplantation: a caprine model for prenatal therapy in inherited metabolic diseases","volume":"16","author":"Lovell","year":"2001","journal-title":"Fetal Diagn. Ther."},{"key":"2020071700044960300_ref17","first-page":"S66","article-title":"Allogeneic hematopoietic stem transplant improves outcome in fucosidosis","volume":"126","author":"Gupta","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref18","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s11011-017-9968-5","article-title":"Brain abnormalities in fucosidosis: transplantation or supportive therapy?","volume":"32","author":"Jiang","year":"2017","journal-title":"Metab. Brain Dis."},{"key":"2020071700044960300_ref19","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1159\/000322541","article-title":"Canine fucosidosis: a neuroprogressive disorder","volume":"8","author":"Kondagari","year":"2011","journal-title":"Neurodegener. Dis."},{"key":"2020071700044960300_ref20","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1111\/gbb.12282","article-title":"Associations between neurologic dysfunction and lesions in canine fucosidosis","volume":"15","author":"Fletcher","year":"2016","journal-title":"Genes Brain Behav."},{"key":"2020071700044960300_ref21","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1097\/NEN.0000000000000075","article-title":"Oligodendrocyte loss during the disease course in a canine model of the lysosomal storage disease fucosidosis","volume":"73","author":"Fletcher","year":"2014","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"2020071700044960300_ref22","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1002\/ajmg.1320420439","article-title":"Amelioration of clinical disease following bone marrow transplantation in fucosidase-deficient dogs","volume":"42","author":"Taylor","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"2020071700044960300_ref23","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1186\/s13023-015-0357-z","article-title":"The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis","volume":"10","author":"Kondagari","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"2020071700044960300_ref24","volume-title":"Krabbe disease (Globoid cell leukodystrophy)","author":"Wenger","year":"2014"},{"key":"2020071700044960300_ref25","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1126\/science.6382609","article-title":"Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse","volume":"225","author":"Yeager","year":"1984","journal-title":"Science"},{"key":"2020071700044960300_ref26","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1212\/WNL.0000000000004418","article-title":"Developmental outcomes of cord blood transplantation for Krabbe disease: a 15-year study","volume":"89","author":"Wright","year":"2017","journal-title":"Neurology"},{"key":"2020071700044960300_ref27","doi-asserted-by":"crossref","first-page":"2069","DOI":"10.1056\/NEJMoa042604","article-title":"Transplantation of umbilical-cord blood in babies with infantile Krabbe\u2019s disease","volume":"352","author":"Escolar","year":"2005","journal-title":"N. Engl. J. Med."},{"key":"2020071700044960300_ref28","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1038\/mt.2012.153","article-title":"Extended normal life after AAVrh10-mediated gene therapy in the mouse model of Krabbe disease","volume":"20","author":"Rafi","year":"2012","journal-title":"Mol. Ther."},{"key":"2020071700044960300_ref29","doi-asserted-by":"crossref","first-page":"1681","DOI":"10.1038\/mt.2015.145","article-title":"Long-term improvements in lifespan and pathology in CNS and PNS after BMT plus one intravenous injection of AAVrh10-GALC in twitcher mice","volume":"23","author":"Rafi","year":"2015","journal-title":"Mol. Ther."},{"key":"2020071700044960300_ref30","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1089\/hum.2017.151","article-title":"AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease)","volume":"29","author":"Bradbury","year":"2018","journal-title":"Hum. Gene Ther."},{"key":"2020071700044960300_ref31","doi-asserted-by":"crossref","first-page":"99","DOI":"10.5966\/sctm.2015-0317","article-title":"Mesenchymal stem cells yield transient improvements in motor function in an infant rhesus macaque with severe early-onset Krabbe disease","volume":"6","author":"Isakova","year":"2017","journal-title":"Stem Cells Transl. Med."},{"key":"2020071700044960300_ref32","volume-title":"Gaucher disease","author":"Grabowski","year":"2014"},{"key":"2020071700044960300_ref33","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/S1474-4422(12)70190-4","article-title":"The link between the GBA gene and parkinsonism","volume":"11","author":"Sidransky","year":"2012","journal-title":"Lancet Neurol."},{"key":"2020071700044960300_ref34","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1177\/030098587301000302","article-title":"Neurovisceral glucocerebroside storage (Gaucher\u2019s disease) in a dog","volume":"10","author":"Hartley","year":"1973","journal-title":"Vet. Pathol."},{"key":"2020071700044960300_ref35","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/path.1711000310","article-title":"Histiocytosis in two pigs and a cow: conditions resembling lipid storage disorders in man","volume":"100","author":"Sandison","year":"1970","journal-title":"J. Pathol."},{"key":"2020071700044960300_ref36","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.nbd.2016.03.011","article-title":"Glycosphingolipid analysis in a naturally occurring ovine model of acute neuronopathic Gaucher disease","volume":"91","author":"Karageorgos","year":"2016","journal-title":"Neurobiol. Dis."},{"key":"2020071700044960300_ref37","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1007\/s10545-010-9230-3","article-title":"Gaucher disease in sheep","volume":"34","author":"Karageorgos","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"2020071700044960300_ref38","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1111\/age.12613","article-title":"A nucleotide substitution in exon 8 of the glucosylceramidase beta gene is associated with Gaucher disease in sheep","volume":"48","author":"Zhou","year":"2017","journal-title":"Anim. Genet."},{"key":"2020071700044960300_ref39","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.ymgme.2017.05.010","article-title":"Lipid composition of microdomains is altered in neuronopathic Gaucher disease sheep brain and spleen","volume":"121","author":"Hein","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref40","volume-title":"Beta-galactosidase deficiency (beta-galactosidosis: GM1 gangliosidoses and Morquio B disease","author":"Suzuki","year":"2014"},{"key":"2020071700044960300_ref41","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.expneurol.2004.01.008","article-title":"An inversion of 25 base pairs causes feline GM2 gangliosidosis variant","volume":"187","author":"Martin","year":"2004","journal-title":"Exp. Neurol."},{"key":"2020071700044960300_ref42","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.ymgme.2008.02.004","article-title":"Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis","volume":"94","author":"Martin","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref43","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.omtm.2017.07.005","article-title":"Lipidomic evaluation of feline neurologic disease after AAV gene therapy","volume":"6","author":"Gray-Edwards","year":"2017","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"2020071700044960300_ref44","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/j.ymthe.2017.01.009","article-title":"Novel biomarkers of human GM1 gangliosidosis reflect the clinical efficacy of gene therapy in a feline model","volume":"25","author":"Gray-Edwards","year":"2017","journal-title":"Mol. Ther."},{"key":"2020071700044960300_ref45","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.brainres.2006.11.039","article-title":"Cerebrospinal fluid biomarkers showing neurodegeneration in dogs with GM1 gangliosidosis: possible use for assessment of a therapeutic regimen","volume":"1133","author":"Satoh","year":"2007","journal-title":"Brain Res."},{"key":"2020071700044960300_ref46","volume-title":"The GM2 Gangliosidoses","author":"Gravel","year":"2014"},{"key":"2020071700044960300_ref47","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1126\/science.404709","article-title":"GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency","volume":"196","author":"Cork","year":"1977","journal-title":"Science"},{"key":"2020071700044960300_ref48","first-page":"723","article-title":"The pathology of feline GM2 gangliosidosis","volume":"90","author":"Cork","year":"1978","journal-title":"Am. J. Pathol."},{"key":"2020071700044960300_ref49","first-page":"1109","article-title":"Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease)","volume":"144","author":"Muldoon","year":"1994","journal-title":"Am. J. Pathol."},{"key":"2020071700044960300_ref50","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.rvsc.2006.05.007","article-title":"Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats","volume":"82","author":"Kanae","year":"2007","journal-title":"Res. Vet. Sci."},{"key":"2020071700044960300_ref51","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.ymgme.2009.01.003","article-title":"Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency","volume":"97","author":"Bradbury","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref52","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1038\/mt.2013.86","article-title":"Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy","volume":"21","author":"Bradbury","year":"2013","journal-title":"Mol. Ther."},{"key":"2020071700044960300_ref53","doi-asserted-by":"crossref","DOI":"10.1177\/1759091415569908","article-title":"AAV-mediated gene delivery in a feline model of Sandhoff disease corrects lysosomal storage in the central nervous system","volume":"7","author":"Rockwell","year":"2015","journal-title":"ASN Neuro."},{"key":"2020071700044960300_ref54","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.expneurol.2014.09.020","article-title":"Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease","volume":"263","author":"Bradbury","year":"2015","journal-title":"Exp. Neurol."},{"key":"2020071700044960300_ref55","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.neuroscience.2016.10.047","article-title":"AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease","volume":"340","author":"Bradbury","year":"2017","journal-title":"Neuroscience"},{"key":"2020071700044960300_ref56","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.ymgme.2015.05.003","article-title":"Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy","volume":"116","author":"Gray-Edwards","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref57","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.ymgme.2010.08.006","article-title":"Tay\u2013Sachs disease in Jacob sheep","volume":"101","author":"Torres","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref58","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1177\/0300985810388522","article-title":"Pathology of GM2 gangliosidosis in Jacob sheep","volume":"48","author":"Porter","year":"2011","journal-title":"Vet. Pathol."},{"key":"2020071700044960300_ref59","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1089\/hum.2017.163","article-title":"Adeno-associated virus gene therapy in a sheep model of Tay\u2013Sachs disease","volume":"29","author":"Gray-Edwards","year":"2018","journal-title":"Hum. Gene Ther."},{"key":"2020071700044960300_ref60","doi-asserted-by":"crossref","first-page":"S58","DOI":"10.1016\/j.ymgme.2016.11.128","article-title":"Long term surivival of sheep with Tay\u2013Sachs disease after intracranial delivery of a novel bicistonic AAV gene therapy vector","volume":"120","author":"Gray-Edwards","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref61","volume-title":"I-cell disease and pseudo-Hurler polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization","author":"Braulke","year":"2014"},{"key":"2020071700044960300_ref62","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1093\/jhered\/esg080","article-title":"Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease","volume":"94","author":"Mazrier","year":"2003","journal-title":"J. Hered."},{"key":"2020071700044960300_ref63","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1186\/s12917-018-1728-1","article-title":"A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)","volume":"14","author":"Wang","year":"2018","journal-title":"BMC Vet. Res."},{"key":"2020071700044960300_ref64","volume-title":"The Mucopolysaccharidoses","author":"Neufeld","year":"2014"},{"key":"2020071700044960300_ref65","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1203\/00006450-197911000-00018","article-title":"Alpha-l-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I","volume":"13","author":"Haskins","year":"1979","journal-title":"Pediatr. Res."},{"key":"2020071700044960300_ref66","doi-asserted-by":"crossref","first-page":"6091","DOI":"10.1073\/pnas.80.19.6091","article-title":"A canine model of human alpha-l-iduronidase deficiency","volume":"80","author":"Spellacy","year":"1983","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"2020071700044960300_ref67","first-page":"487","article-title":"Morphologic and biochemical studies of canine mucopolysaccharidosis I","volume":"114","author":"Shull","year":"1984","journal-title":"Am. J. Pathol."},{"key":"2020071700044960300_ref68","doi-asserted-by":"crossref","DOI":"10.1016\/j.expneurol.2015.07.021","article-title":"Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis I","volume":"273","author":"Provenzale","year":"2015","journal-title":"Exp. Neurol."},{"key":"2020071700044960300_ref69","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1006\/mgme.1999.2860","article-title":"Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats","volume":"67","author":"He","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref70","first-page":"27","article-title":"The pathology of the feline model of mucopolysaccharidosis I","volume":"112","author":"Haskins","year":"1983","journal-title":"Am. J. Pathol."},{"key":"2020071700044960300_ref71","first-page":"677","article-title":"Long-term effects of bone marrow transplantation in dogs with mucopolysaccharidosis I","volume":"134","author":"Breider","year":"1989","journal-title":"Am. J. Pathol."},{"key":"2020071700044960300_ref72","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.ymgme.2007.03.001","article-title":"Bone marrow transplantation for feline mucopolysaccharidosis I","volume":"91","author":"Ellinwood","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref73","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1006\/mgme.2000.3140","article-title":"Enzyme replacement therapy in feline mucopolysaccharidosis I","volume":"72","author":"Kakkis","year":"2001","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref74","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1006\/bmme.1996.0044","article-title":"Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I","volume":"58","author":"Kakkis","year":"1996","journal-title":"Biochem. Mol. Med."},{"key":"2020071700044960300_ref75","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1038\/gim.2018.29","article-title":"Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison","volume":"20","author":"Eisengart","year":"2018","journal-title":"Genet. Med."},{"key":"2020071700044960300_ref76","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1007\/s00247-017-3935-5","article-title":"Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis","volume":"47","author":"Matsubara","year":"2017","journal-title":"Pediatr. Radiol."},{"key":"2020071700044960300_ref77","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.ymgme.2010.06.020","article-title":"Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I","volume":"101","author":"Dickson","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref78","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ymgme.2004.07.003","article-title":"Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I","volume":"83","author":"Kakkis","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref79","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.ymgme.2011.03.011","article-title":"Biodistribution and pharmacodynamics of recombinant human alpha-l-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrations","volume":"103","author":"Vite","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref80","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1002\/ajmg.a.38073","article-title":"Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I","volume":"173","author":"Nestrasil","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"2020071700044960300_ref81","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1177\/1971400917715792","article-title":"Diffusion tensor imaging findings suggestive of white matter alterations in a canine model of mucopolysaccharidosis type I","volume":"31","author":"Middleton","year":"2018","journal-title":"Neuroradiol. J."},{"key":"2020071700044960300_ref82","doi-asserted-by":"crossref","first-page":"3837","DOI":"10.1093\/hmg\/ddx277","article-title":"Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis","volume":"26","author":"Hinderer","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"2020071700044960300_ref83","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1038\/sj.mt.6300201","article-title":"Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy","volume":"15","author":"Traas","year":"2007","journal-title":"Mol. Ther."},{"key":"2020071700044960300_ref84","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1002\/ana.20870","article-title":"Gene therapy of the brain in the dog model of Hurler\u2019s syndrome","volume":"60","author":"Ciron","year":"2006","journal-title":"Ann. Neurol."},{"key":"2020071700044960300_ref85","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/mt.2010.265","article-title":"Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes","volume":"19","author":"Ellinwood","year":"2011","journal-title":"Mol. Ther."},{"key":"2020071700044960300_ref86","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.ymgme.2016.06.006","article-title":"Neonatal tolerance induction enables accurate evaluation of gene therapy for MPS I in a canine model","volume":"119","author":"Hinderer","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref87","doi-asserted-by":"crossref","first-page":"2018","DOI":"10.1038\/mt.2014.135","article-title":"Intrathecal gene therapy corrects CNS pathology in a feline model of mucopolysaccharidosis I","volume":"22","author":"Hinderer","year":"2014","journal-title":"Mol. Ther."},{"key":"2020071700044960300_ref88","doi-asserted-by":"crossref","first-page":"14894","DOI":"10.1073\/pnas.1413645111","article-title":"Liver-directed gene therapy corrects cardiovascular lesions in feline mucopolysaccharidosis type I","volume":"111","author":"Hinderer","year":"2014","journal-title":"Proc. Natl. Acad. Sci. 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Neurol."},{"key":"2020071700044960300_ref92","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1007\/s10545-014-9790-8","article-title":"Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain","volume":"38","author":"King","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"key":"2020071700044960300_ref93","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1007\/s10545-016-9994-1","article-title":"Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA","volume":"40","author":"King","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"2020071700044960300_ref94","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1111\/jnc.13533","article-title":"Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder mucopolysaccharidosis type IIIA","volume":"137","author":"King","year":"2016","journal-title":"J. Neurochem."},{"key":"2020071700044960300_ref95","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1023\/A:1025177411938","article-title":"A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-d-glucosaminidase deficiency in Schipperke dogs","volume":"26","author":"Ellinwood","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"key":"2020071700044960300_ref96","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.2174\/138161208784705504","article-title":"Lysosomal storage diseases and the blood\u2013brain barrier","volume":"14","author":"Begley","year":"2008","journal-title":"Curr. Pharm. Des."},{"key":"2020071700044960300_ref97","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1177\/030098589403100405","article-title":"Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency","volume":"31","author":"Gitzelmann","year":"1994","journal-title":"Vet. Pathol."},{"key":"2020071700044960300_ref98","first-page":"1553","article-title":"Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog","volume":"138","author":"Haskins","year":"1991","journal-title":"Am. J. Pathol."},{"key":"2020071700044960300_ref99","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1159\/000469027","article-title":"Characterization of the defective beta-glucuronidase activity in canine mucopolysaccharidosis type VII","volume":"42","author":"Schuchman","year":"1989","journal-title":"Enzyme"},{"key":"2020071700044960300_ref100","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.ymgme.2009.12.003","article-title":"Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression","volume":"99","author":"Metcalf","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref101","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1203\/01.PDR.0000156510.96253.5A","article-title":"Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models","volume":"57","author":"Simonaro","year":"2005","journal-title":"Pediatr. Res."},{"key":"2020071700044960300_ref102","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ymgme.2012.03.014","article-title":"Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII","volume":"107","author":"Smith","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref103","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1038\/sj.bmt.1702448","article-title":"Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII","volume":"25","author":"Sammarco","year":"2000","journal-title":"Bone Marrow Transplant."},{"key":"2020071700044960300_ref104","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1006\/mthe.2000.0202","article-title":"Gene transfer of low levels of beta-glucuronidase corrects hepatic lysosomal storage in a large animal model of mucopolysaccharidosis VII","volume":"2","author":"Wolfe","year":"2000","journal-title":"Mol. Ther."},{"key":"2020071700044960300_ref105","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1006\/mthe.2002.0527","article-title":"Transduction of hepatocytes after neonatal delivery of a Moloney murine leukemia virus based retroviral vector results in long-term expression of beta-glucuronidase in mucopolysaccharidosis VII dogs","volume":"5","author":"Xu","year":"2002","journal-title":"Mol. Ther."},{"key":"2020071700044960300_ref106","doi-asserted-by":"crossref","first-page":"13102","DOI":"10.1073\/pnas.192353499","article-title":"Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs","volume":"99","author":"Ponder","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2020071700044960300_ref107","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.ymgme.2008.07.003","article-title":"Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy","volume":"95","author":"Herati","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref108","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.ymgme.2004.01.015","article-title":"Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs","volume":"82","author":"Mango","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref109","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1161\/01.CIR.0000138747.82487.4B","article-title":"Gene therapy ameliorates cardiovascular disease in dogs with mucopolysaccharidosis VII","volume":"110","author":"Sleeper","year":"2004","journal-title":"Circulation"},{"key":"2020071700044960300_ref110","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1111\/avj.12575","article-title":"E7 (1057DeltaTA) mutation of the acidic alpha-glucosidase gene causes Pompe\u2019s disease in Droughtmaster cattle","volume":"95","author":"Lyons","year":"2017","journal-title":"Aust. Vet. J."},{"key":"2020071700044960300_ref111","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.ymgme.2013.06.015","article-title":"The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade","volume":"110","author":"Bigg","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref112","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.ymgme.2013.03.013","article-title":"The effect of neonatal gene therapy on skeletal manifestations in mucopolysaccharidosis VII dogs after a decade","volume":"109","author":"Xing","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"2020071700044960300_ref113","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1038\/mt.2013.283","article-title":"Corrective GUSB transfer to the canine mucopolysaccharidosis VII brain","volume":"22","author":"Cubizolle","year":"2014","journal-title":"Mol. Ther."},{"key":"2020071700044960300_ref114","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1038\/mt.2015.189","article-title":"Evaluation of AAV-mediated gene therapy for central nervous system disease in canine mucopolysaccharidosis VII","volume":"24","author":"Gurda","year":"2016","journal-title":"Mol. Ther."},{"key":"2020071700044960300_ref115","volume-title":"The Neuronal Ceroid Lipofuscinosis","author":"Hofmann","year":"2014"},{"key":"2020071700044960300_ref116","doi-asserted-by":"crossref","first-page":"2237","DOI":"10.1016\/j.bbadis.2015.05.011","article-title":"Genetics of the neuronal ceroid lipofuscinoses (Batten disease)","volume":"1852","author":"Mole","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"2020071700044960300_ref117","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.nbd.2017.08.017","article-title":"Canine neuronal ceroid lipofuscinoses: promising models for preclinical testing of therapeutic interventions","volume":"108","author":"Katz","year":"2017","journal-title":"Neurobiol. Dis."},{"key":"2020071700044960300_ref118","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.1002\/jnr.23423","article-title":"Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease)","volume":"92","author":"Katz","year":"2014","journal-title":"J. Neurosci. Res."},{"key":"2020071700044960300_ref119","doi-asserted-by":"crossref","first-page":"313ra180","DOI":"10.1126\/scitranslmed.aac6191","article-title":"AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease","volume":"7","author":"Katz","year":"2015","journal-title":"Sci. Transl. Med."},{"key":"2020071700044960300_ref120","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S0024-3205(01)01384-4","article-title":"Cyclodextrins in the treatment of a mouse model of Niemann\u2013Pick C disease","volume":"70","author":"Camargo","year":"2001","journal-title":"Life Sci."},{"key":"2020071700044960300_ref121","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0006951","article-title":"Chronic cyclodextrin treatment of murine Niemann\u2013Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression","volume":"4","author":"Davidson","year":"2009","journal-title":"PLoS One"},{"key":"2020071700044960300_ref122","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1073\/pnas.0810895106","article-title":"Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1\u2212\/\u2212 mouse","volume":"106","author":"Liu","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"2020071700044960300_ref123","doi-asserted-by":"crossref","first-page":"1758","DOI":"10.1016\/S0140-6736(17)31465-4","article-title":"Intrathecal 2-hydroxypropyl-beta-cyclodextrin decreases neurological disease progression in Niemann\u2013Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial","volume":"390","author":"Ory","year":"2017","journal-title":"Lancet"},{"key":"2020071700044960300_ref124","doi-asserted-by":"crossref","first-page":"276ra226","DOI":"10.1126\/scitranslmed.3010101","article-title":"Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann\u2013Pick type C1 disease","volume":"7","author":"Vite","year":"2015","journal-title":"Sci. Transl. Med."},{"key":"2020071700044960300_ref125","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1124\/jpet.116.232975","article-title":"Cerebrospinal fluid calbindin D concentration as a biomarker of cerebellar disease progression in Niemann\u2013Pick type C1 disease","volume":"358","author":"Bradbury","year":"2016","journal-title":"J. Pharmacol. Exp. Ther."},{"key":"2020071700044960300_ref126","doi-asserted-by":"crossref","first-page":"6022","DOI":"10.1093\/hmg\/ddu331","article-title":"Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann\u2013Pick C1 (NPC1)","volume":"23","author":"Tortelli","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"2020071700044960300_ref127","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1203\/PDR.0b013e3181df4623","article-title":"2-hydroxypropyl-beta-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann\u2013Pick type C disease","volume":"68","author":"Ward","year":"2010","journal-title":"Pediatr. Res."},{"key":"2020071700044960300_ref128","volume-title":"Niemann-Pick Disease Types A and B: Acid Sphingomyelinase Deficiencies","author":"Schuchman","year":"2014"},{"key":"2020071700044960300_ref129","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1354\/vp.45-2-201","article-title":"Sphingomyelinase deficiency (Niemann\u2013Pick disease) in a Hereford calf","volume":"45","author":"Saunders","year":"2008","journal-title":"Vet. Pathol."},{"key":"2020071700044960300_ref130","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/j.jcpa.2013.01.011","article-title":"Sphingomyelin lipidosis (Niemann\u2013Pick disease) in a juvenile raccoon (Procyon lotor)","volume":"149","author":"Vapniarsky","year":"2013","journal-title":"J. Comp. Pathol."},{"key":"2020071700044960300_ref131","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1177\/030098588702400504","article-title":"Sphingomyelin lipidosis in a cat","volume":"24","author":"Baker","year":"1987","journal-title":"Vet. Pathol."},{"key":"2020071700044960300_ref132","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1177\/030098587901600504","article-title":"Niemann\u2013Pick disease in a poodle dog","volume":"16","author":"Bundza","year":"1979","journal-title":"Vet. Pathol."},{"key":"2020071700044960300_ref133","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1126\/science.7189903","article-title":"Niemann\u2013Pick disease: a genetic model in Siamese cats","volume":"208","author":"Wenger","year":"1980","journal-title":"Science"},{"key":"2020071700044960300_ref134","first-page":"353","volume-title":"Neuromuscular Disorders of Infancy, Childhood, and Adolescence","author":"Patterson","year":"2015"},{"key":"2020071700044960300_ref135","first-page":"1437","volume-title":"Handbook of Clinical Neurology","author":"D\u2019Amico","year":"2013"},{"key":"2020071700044960300_ref136","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1097\/GIM.0b013e3181a16e04","article-title":"The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York","volume":"11","author":"Duffner","year":"2009","journal-title":"Genet. Med."},{"key":"2020071700044960300_ref137","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1212\/01.wnl.0000230156.01228.33","article-title":"Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem cell transplantation","volume":"67","author":"Siddiqi","year":"2006","journal-title":"Neurology"},{"key":"2020071700044960300_ref138","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1097\/NEN.0b013e318286587f","article-title":"Electrodiagnostic testing and histopathologic changes confirm peripheral nervous system myelin abnormalities in the feline model of Niemann\u2013Pick disease type C","volume":"72","author":"Bagel","year":"2013","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"2020071700044960300_ref139","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1002\/jnr.23838","article-title":"Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe\u2019s disease)","volume":"94","author":"Bradbury","year":"2016","journal-title":"J. Neurosci. Res."},{"issue":"Pt 6","key":"2020071700044960300_ref140","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1093\/brain\/112.6.1429","article-title":"Polyneuropathy in feline Niemann\u2013Pick disease","volume":"112","author":"Cuddon","year":"1989","journal-title":"Brain"},{"key":"2020071700044960300_ref141","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/ar.1091640102","article-title":"The subarachnoid angle: an area of transition in peripheral nerve","volume":"164","author":"McCabe","year":"1969","journal-title":"Anat. 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