{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T23:16:33Z","timestamp":1719875793252},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2013,4,5]],"date-time":"2013-04-05T00:00:00Z","timestamp":1365120000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"published-print":{"date-parts":[[2013,6]]},"DOI":"10.1007\/s12031-013-0006-8","type":"journal-article","created":{"date-parts":[[2013,4,4]],"date-time":"2013-04-04T08:50:05Z","timestamp":1365065405000},"page":"284-290","source":"Crossref","is-referenced-by-count":7,"title":["An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene"],"prefix":"10.1007","volume":"50","author":[{"given":"Daniela","family":"Galla","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"de Gemmis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Anesi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Berto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diego","family":"Dolcetta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uro\u0161","family":"Hladnik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,4,5]]},"reference":[{"issue":"4","key":"6_CR1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248\u2013249","journal-title":"Nat Methods"},{"key":"6_CR2","doi-asserted-by":"crossref","unstructured":"Ashkenazy H, Erez E, Martz E, Pupko T, Ben-Tal N (2010) ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids. Nucleic Acids Res 38 (Web Server issue): W529-33","DOI":"10.1093\/nar\/gkq399"},{"key":"6_CR3","doi-asserted-by":"crossref","unstructured":"Barth ML, Fensom A, Harris A (1995) Identification of seven novel mutations associated with metachromatic leukodystrophy. Hum Mutat 6(2):170\u2013176","DOI":"10.1002\/humu.1380060210"},{"issue":"3","key":"6_CR4","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1016\/j.bpj.2008.10.040","volume":"96","author":"G Bellesia","year":"2009","unstructured":"Bellesia G, Shea JE (2009) What determines the structure and stability of KFFE monomers, dimers, and protofibrils? Biophys J 96(3):875\u2013886","journal-title":"Biophys J"},{"key":"6_CR5","doi-asserted-by":"crossref","unstructured":"Biffi A, Cesani M, Fumagalli F et al (2008) Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet 74(4):349\u2013357","DOI":"10.1111\/j.1399-0004.2008.01058.x"},{"key":"6_CR6","unstructured":"Capriotti E, Fariselli P, Casadio R (2005) I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res 33(Web Server issue): W306-10"},{"issue":"8","key":"6_CR7","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1093\/emboj\/18.8.2084","volume":"18","author":"T Dierks","year":"1999","unstructured":"Dierks T, Lecca MR, Schlotterhose P, Schmidt B, von Figura K (1999) Sequence determinants directing conversion of cysteine to formylglycine in eukaryotic sulfatases. EMBO J 18(8):2084\u20132091","journal-title":"EMBO J"},{"issue":"2\u20133","key":"6_CR8","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S0014-5793(96)01181-7","volume":"397","author":"A Fiser","year":"1996","unstructured":"Fiser A, Simon I, Barton GJ (1996) Conservation of amino acids in multiple alignments: aspartic acid has unexpected conservation. FEBS Lett 397(2\u20133):225\u2013229","journal-title":"FEBS Lett"},{"key":"6_CR9","doi-asserted-by":"crossref","first-page":"9436","DOI":"10.1073\/pnas.86.23.9436","volume":"86","author":"V Gieselmann","year":"1989","unstructured":"Gieselmann V, Polten A, Kreysing J, von Figura K (1989) Arylsulfatase A pseudodeficiency: loss of a N-glycosylation site and a polyadenylation signal. Proc Nat Acad Sci USA 86:9436\u20139440","journal-title":"Proc Nat Acad Sci USA"},{"issue":"12","key":"6_CR10","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1093\/protein\/13.12.849","volume":"13","author":"D Gilis","year":"2000","unstructured":"Gilis D, Rooman M (2000) PoPMuSiC, an algorithm for predicting protein mutant stability changes: application to prion proteins. Protein Eng 13(12):849\u2013856","journal-title":"Protein Eng"},{"issue":"11","key":"6_CR11","doi-asserted-by":"crossref","first-page":"E220","DOI":"10.1002\/humu.20851","volume":"29","author":"S Grossi","year":"2008","unstructured":"Grossi S, Regis S, Rosano C et al (2008) Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. Hum Mutat 29(11):E220\u2013E230","journal-title":"Hum Mutat"},{"key":"6_CR12","doi-asserted-by":"crossref","unstructured":"Hermann S, Schestag F, Polten A et al (2000) Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy. Am J Med Genet 6:91(1): 68\u201373","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<68::AID-AJMG13>3.0.CO;2-G"},{"issue":"10","key":"6_CR13","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1093\/bioinformatics\/btm100","volume":"23","author":"LT Huang","year":"2007","unstructured":"Huang LT, Gromiha MM, Ho SY (2007) iPTREE-STAB: interpretable decision tree based method for predicting protein stability changes upon mutations. Bioinformatics 23(10):1292\u20131293","journal-title":"Bioinformatics"},{"issue":"7","key":"6_CR14","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4(7):1073\u20131081","journal-title":"Nat Protoc"},{"key":"6_CR15","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1093\/bioinformatics\/18.12.1701","volume":"18","author":"JM Kwasigroch","year":"2002","unstructured":"Kwasigroch JM, Gilis D, Dehouck Y, Rooman M (2002) PoPMuSiC, rationally designing point mutations in protein structures. Bioinformatics 18:1701\u20131702","journal-title":"Bioinformatics"},{"key":"6_CR16","doi-asserted-by":"crossref","unstructured":"Landau M, Mayrose I, Rosenberg Y et al (2005) ConSurf 2005: the projection of evolutionary conservation scores of residues on protein structures. Nucleic Acids Res 33 (Web Server issue): W299-302","DOI":"10.1093\/nar\/gki370"},{"issue":"11","key":"6_CR17","doi-asserted-by":"crossref","first-page":"3654","DOI":"10.1021\/bi9714924","volume":"37","author":"G Lukatela","year":"1998","unstructured":"Lukatela G, Krauss N, Theis K et al (1998) Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis. Biochemistry 37(11):3654\u20133664","journal-title":"Biochemistry"},{"issue":"1","key":"6_CR18","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/S0006-291X(03)00969-0","volume":"306","author":"A Marc\u00e3o","year":"2003","unstructured":"Marc\u00e3o A, Azevedo JE, Gieselmann V, S\u00e1 Miranda MC (2003) Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T. Biochem Biophys Res Commun 306(1):293\u2013297","journal-title":"Biochem Biophys Res Commun"},{"issue":"2","key":"6_CR19","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1001\/archneur.62.2.309","volume":"62","author":"AM Marc\u00e3o","year":"2005","unstructured":"Marc\u00e3o AM, Wiest R, Schindler K et al (2005) Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. Arch Neurol 62(2):309\u2013313","journal-title":"Arch Neurol"},{"key":"6_CR20","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.1002\/anie.200390319","volume":"42","author":"EA Meyer","year":"2003","unstructured":"Meyer EA, Castellano RK, Diederich F (2003) Interactions with aromatic rings in chemical and biological recognition. Angew Chem Int Ed Engl 42:1210\u20131250","journal-title":"Angew Chem Int Ed Engl"},{"issue":"3","key":"6_CR21","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1101\/gr.212802","volume":"12","author":"PC Ng","year":"2002","unstructured":"Ng PC, Henikoff S (2002) Accounting for human polymorphisms predicted to affect protein function. Genome Res 12(3):436\u2013446","journal-title":"Genome Res"},{"issue":"16","key":"6_CR22","doi-asserted-by":"crossref","first-page":"3404","DOI":"10.1111\/j.1742-4658.2010.07745.x","volume":"277","author":"P Poeppel","year":"2010","unstructured":"Poeppel P, Abouzied MM, V\u00f6lker C, Gieselmann V (2010) Misfolded endoplasmic reticulum retained subunits cause degradation of wild-type subunits of arylsulfatase A heteromers. FEBS J 277(16):3404\u20133414","journal-title":"FEBS J"},{"issue":"5","key":"6_CR23","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1111\/j.1742-4658.2005.04553.x","volume":"272","author":"P Poeppel","year":"2005","unstructured":"Poeppel P, Habetha M, Marc\u00e3o A, B\u00fcssow H, Berna L, Gieselmann V (2005) Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. FEBS J 272(5):1179\u20131188","journal-title":"FEBS J"},{"key":"6_CR24","doi-asserted-by":"crossref","unstructured":"Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V (1991) Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 324(1):18\u201322","DOI":"10.1056\/NEJM199101033240104"},{"issue":"17","key":"6_CR25","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1093\/nar\/gkf493","volume":"30","author":"V Ramensky","year":"2002","unstructured":"Ramensky V, Bork P, Sunyaev S (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30(17):3894\u20133900","journal-title":"Nucleic Acids Res"},{"key":"6_CR26","doi-asserted-by":"crossref","unstructured":"Regis S, Corsolini F, Stroppiano M, Cusano R, Filocamo M (2002) Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity. Hum Genet 110(4):351\u2013355","DOI":"10.1007\/s00439-002-0701-y"},{"key":"6_CR27","doi-asserted-by":"crossref","unstructured":"Regis S, Corsolini F, Ricci V, Di Duca M, Filocamo M (2004) An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient. Eur J Hum Genet 12(2):150\u2013154","DOI":"10.1038\/sj.ejhg.5201100"},{"issue":"8","key":"6_CR28","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1007\/s10719-008-9222-9","volume":"26","author":"M Schenk","year":"2009","unstructured":"Schenk M, Koppisetty CA, Santos DC et al (2009) Interaction of arylsulfatase-A (ASA) with its natural sulfoglycolipid substrates: a computational and site-directed mutagenesis study. Glycoconj J 26(8):1029\u20131045","journal-title":"Glycoconj J"},{"key":"6_CR29","doi-asserted-by":"crossref","unstructured":"Schmidt B, Selmer T, Ingendoh A, von Figura K (1995) A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell 28;82(2):271\u2013278","DOI":"10.1016\/0092-8674(95)90314-3"},{"key":"6_CR30","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1016\/S0021-9258(19)85079-2","volume":"264","author":"C Stein","year":"1989","unstructured":"Stein C, Gieselmann V, Kreysing J et al (1989) Cloning and expression of human arylsulfatase A. J Biol Chem 264:1252\u20131259","journal-title":"J Biol Chem"},{"issue":"6","key":"6_CR31","doi-asserted-by":"crossref","first-page":"3066","DOI":"10.1016\/S0006-3495(02)75311-3","volume":"83","author":"P Vagedes","year":"2002","unstructured":"Vagedes P, Saenger W, Knapp EW (2002) Driving forces of protein association: the dimer-octamer equilibrium in arylsulfatase A. Biophys J 83(6):3066\u20133078","journal-title":"Biophys J"},{"issue":"2","key":"6_CR32","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1006\/jmbi.2000.4297","volume":"305","author":"R B\u00fclow von","year":"2001","unstructured":"von B\u00fclow R, Schmidt B, Dierks T, von Figura K, Us\u00f3n I (2001) Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis. J Mol Biol 305(2):269\u2013277","journal-title":"J Mol Biol"},{"key":"6_CR33","first-page":"3695","volume-title":"The metabolic and molecular bases of inherited disease","author":"K Figura von","year":"2001","unstructured":"von Figura K, Gieselmann V, Jaeken J (2001) Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3695\u20133724"},{"issue":"6","key":"6_CR34","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1002\/(SICI)1521-1878(199806)20:6<505::AID-BIES9>3.0.CO;2-K","volume":"20","author":"K Figura von","year":"1998","unstructured":"von Figura K, Schmidt B, Selmer T, Dierks T (1998) A novel protein modification generating an aldehyde group in sulfatases: its role in catalysis and disease. Bioessays 20(6):505\u2013510","journal-title":"Bioessays"},{"issue":"18","key":"6_CR35","doi-asserted-by":"crossref","first-page":"12284","DOI":"10.1074\/jbc.274.18.12284","volume":"274","author":"A Waldow","year":"1999","unstructured":"Waldow A, Schmidt B, Dierks T, von B\u00fclow R, von Figura K (1999) Amino acid residues forming the active site of arylsulfatase A. Role in catalytic activity and substrate binding. J Biol Chem 274(18):12284\u201312288","journal-title":"J Biol Chem"},{"issue":"4","key":"6_CR36","doi-asserted-by":"crossref","first-page":"2897","DOI":"10.1529\/biophysj.104.055574","volume":"88","author":"C Wu","year":"2005","unstructured":"Wu C, Lei H, Duan Y (2005) The role of Phe in the formation of well-ordered oligomers of amyloidogenic hexapeptide (NFGAIL) observed in molecular dynamics simulations with explicit solvent. Biophys J 88(4):2897\u20132906","journal-title":"Biophys J"}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-013-0006-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12031-013-0006-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-013-0006-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,13]],"date-time":"2022-02-13T01:50:41Z","timestamp":1644717041000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12031-013-0006-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,5]]},"references-count":36,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["6"],"URL":"https:\/\/doi.org\/10.1007\/s12031-013-0006-8","relation":{},"ISSN":["0895-8696","1559-1166"],"issn-type":[{"value":"0895-8696","type":"print"},{"value":"1559-1166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,5]]}}}