{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T11:47:25Z","timestamp":1740138445306,"version":"3.37.3"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,8,6]],"date-time":"2018-08-06T00:00:00Z","timestamp":1533513600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"published-print":{"date-parts":[[2018,9]]},"DOI":"10.1007\/s12031-018-1141-z","type":"journal-article","created":{"date-parts":[[2018,8,6]],"date-time":"2018-08-06T08:01:21Z","timestamp":1533542481000},"page":"17-25","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD"],"prefix":"10.1007","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2271-3522","authenticated-orcid":false,"given":"Abir Ben","family":"Issa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma Kammoun","family":"Feki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marwa Ben","family":"Jdila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boudour","family":"Khabou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bochra Ben","family":"Rhouma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leila","family":"Ammar-Keskes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chahnez","family":"Triki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faiza","family":"Fakhfakh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,8,6]]},"reference":[{"key":"1141_CR1","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1002\/ajmg.a.30118","volume":"129","author":"L Bern\u00e1","year":"2004","unstructured":"Bern\u00e1 L, Gieselmann V, Poupetov\u00e1 H, Hreb\u00edcek M, Elleder M, Ledvinov\u00e1 J (2004) Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients. Am J Med Genet 129:277\u2013281","journal-title":"Am J Med Genet"},{"key":"1141_CR2","doi-asserted-by":"publisher","first-page":"936","DOI":"10.1002\/humu.21093","volume":"30","author":"M Cesani","year":"2009","unstructured":"Cesani M, Capotondo A, Plati T, Sergi LS, Fumagalli F, Roncarolo MG, Naldini L, Comi G, Sessa M, Biffi A (2009) Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy. Hum Mutat 30:936\u2013945","journal-title":"Hum Mutat"},{"key":"1141_CR3","doi-asserted-by":"crossref","unstructured":"Cesani M, Lorioli L, Grossi S, Amico G, Fumagalli F, Spiga I, Filocamo M, and Biffi A (2015) Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. Hum mutat 37: 16\u201327","DOI":"10.1002\/humu.22919"},{"key":"1141_CR4","first-page":"15","volume":"16","author":"Y Choi","year":"2015","unstructured":"Choi Y, Chan AP (2015) PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics 16:15\u201331","journal-title":"Bioinformatics"},{"key":"1141_CR6","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/j.ejpn.2007.05.004","volume":"12","author":"N Deconinck","year":"2008","unstructured":"Deconinck N, Messaaoui A, Ziereisen F, Kadhim H, Sznajer Y, Pelc K, Nassogne MC, Vanier MT, Dan B (2008) Metachromatic leukodystrophy without arylsulfatase a deficiency: a new case of saposin-B deficiency. Eur J Paediatr Neurol 12:46\u201350","journal-title":"Eur J Paediatr Neurol"},{"key":"1141_CR7","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1111\/j.1651-2227.2008.00648.x","volume":"97","author":"V Gieselmann","year":"2008","unstructured":"Gieselmann V (2008) Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. Acta Paediatr 97:15\u201321","journal-title":"Acta Paediatr"},{"key":"1141_CR8","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1002\/humu.1380040402","volume":"4","author":"V Gieselmann","year":"1994","unstructured":"Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP (1994) Molecular genetics of metachromatic leukodystrophy. Hum Mutat 4:233\u2013242","journal-title":"Hum Mutat"},{"key":"1141_CR9","doi-asserted-by":"publisher","first-page":"E220","DOI":"10.1002\/humu.20851","volume":"29","author":"S Grossi","year":"2008","unstructured":"Grossi S, Regis S, Rosano C, Corsolini F, Uziel G, Sessa M, Di Rocco M, Parenti G, Deodato F, Leuzzi V 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:E220\u2013E230","journal-title":"Hum Mutat"},{"key":"1141_CR5","doi-asserted-by":"crossref","unstructured":"Halsal DJ, Eugene Halligan P, Terence Elsey S, and Timothy M. Cox (1999) Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case. HUMAN MUTATION Mutation in Brief #273","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<447::AID-HUMU12>3.0.CO;2-1"},{"key":"1141_CR10","first-page":"1627","volume":"19","author":"A Kreysing","year":"1990","unstructured":"Kreysing A, Von Figura K, Gieselmann V (1990) Structure of the arylsulfatase a gene. Eur J Biochem 19:1627\u20131631","journal-title":"Eur J Biochem"},{"key":"1141_CR11","first-page":"522","volume":"13","author":"HA Lewin","year":"1992","unstructured":"Lewin HA, Stewart-Haynes JA (1992) A simple method for DNA extraction from leukocytes for use in PCR. BioTechniques 13:522\u2013524","journal-title":"BioTechniques"},{"key":"1141_CR12","doi-asserted-by":"publisher","first-page":"2744","DOI":"10.1093\/bioinformatics\/btp528","volume":"25","author":"B Li","year":"2009","unstructured":"Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DNSD, Mooney RP (2009) Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 25:2744\u20132750","journal-title":"Bioinformatics"},{"key":"1141_CR13","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1111\/j.1399-0004.2005.00451.x","volume":"68","author":"A Lugowska","year":"2005","unstructured":"Lugowska A, Berger J, Tylki-Szyman\u2019ska A (2005) Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland. Clin Genet 68:48\u201354","journal-title":"Clin Genet"},{"key":"1141_CR14","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1016\/j.jns.2013.12.030","volume":"338","author":"A Lugowska","year":"2014","unstructured":"Lugowska A, Mierzewska H, Bekiesinska-Figatowska M, Szczepanik E, Goszczanska-Ciuchta A, Bednarska-Makaruk M (2014) A homozygote for the c.459+1G>a mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy. J Neurol Sci 338:214\u2013217","journal-title":"J Neurol Sci"},{"key":"1141_CR15","doi-asserted-by":"publisher","first-page":"3654","DOI":"10.1021\/bi9714924","volume":"37","author":"G Lukatela","year":"1998","unstructured":"Lukatela G, Krauss N, Theis K, Selmer T, Gieselmann V, von Figura K, Saenger W (1998) Crystal structure of human arylsulfatase a: the aldehyde function and the metal ion at the active site suggest a novel mechanismfor sulfate ester hydrolysis. Biochemistry 37:3654\u20133664","journal-title":"Biochemistry"},{"key":"1141_CR16","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1101\/gr.176601","volume":"11","author":"CN Pauline","year":"2001","unstructured":"Pauline CN, Henikoff S (2001) Predicting deleterious amino acid substitutions. Genome Res 11:863\u2013874","journal-title":"Genome Res"},{"key":"1141_CR17","first-page":"3371","volume-title":"The metabolic and molecular bases of inherited disease","author":"K Sandhoff","year":"2001","unstructured":"Sandhoff K, Kolter H, Harzer K (2001) Sphingolipid activator proteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3371\u20133388","edition":"8"},{"key":"1141_CR18","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1042\/bj20020286","volume":"367","author":"F Schestag","year":"2002","unstructured":"Schestag F, Yaghootfam A, Habetha M, Poeppel P, Dietz F, Klein RA, Zlotogora J, Gieselmann V (2002) The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A. Biochem J 367:499\u2013504","journal-title":"Biochem J"},{"key":"1141_CR19","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz JM, R\u00f6delsperger C, Schuelke M, Seelow D (2010) Mutation Taster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575\u2013576","journal-title":"Nat Methods"},{"key":"1141_CR20","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, Schmidt B, Pohlmann R, Waheed A, Meyer HE, O\u2019Brien JS, Von Figura K (1989) Cloning and expression of human arylsulfatase A. J Biol Chem 264:1252\u20131259","journal-title":"J Biol Chem"},{"key":"1141_CR21","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1093\/hmg\/10.6.591","volume":"10","author":"S Sunyaev","year":"2001","unstructured":"Sunyaev S, Ramensky V, Koch I, Lathe W 3rd, Kondrashov AS, Bork P (2001) Prediction of deleterious human alleles. Hum Mol Genet 10:591\u2013597","journal-title":"Hum Mol Genet"},{"key":"1141_CR22","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. McGrawHill, New York, pp 3695\u20133724"},{"key":"1141_CR23","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1016\/j.pediatrneurol.2007.02.011","volume":"36","author":"J Wang","year":"2007","unstructured":"Wang J, Zhang W, Pan H, Bao X, Wu Y, Wu X, Jiang Y (2007) ARSA gene mutations in five Chinese metachromatic leukodystrophy patients. Pediatr Neurol 36:397\u2013401","journal-title":"Pediatr Neurol"},{"key":"1141_CR24","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1017\/S1355838298980116","volume":"4","author":"M Zuker","year":"1998","unstructured":"Zuker M, Jacobson AB (1998) Using reliability information to annotate RNA secondary structures. RNA 4:669\u2013679","journal-title":"RNA"}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12031-018-1141-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-018-1141-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-018-1141-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,28]],"date-time":"2022-08-28T19:58:49Z","timestamp":1661716729000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12031-018-1141-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,6]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,9]]}},"alternative-id":["1141"],"URL":"https:\/\/doi.org\/10.1007\/s12031-018-1141-z","relation":{},"ISSN":["0895-8696","1559-1166"],"issn-type":[{"type":"print","value":"0895-8696"},{"type":"electronic","value":"1559-1166"}],"subject":[],"published":{"date-parts":[[2018,8,6]]},"assertion":[{"value":"24 April 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 July 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 August 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}