{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T19:31:56Z","timestamp":1779391916285,"version":"3.53.1"},"reference-count":47,"publisher":"Elsevier","isbn-type":[{"value":"9780443193446","type":"print"}],"license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024]]},"DOI":"10.1016\/bs.apcsb.2023.12.016","type":"book-chapter","created":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T17:23:37Z","timestamp":1719336217000},"page":"203-221","source":"Crossref","is-referenced-by-count":3,"title":["Exploring the effect of disease causing mutations in metal binding sites of human ARSA in metachromatic leukodystrophy"],"prefix":"10.1016","member":"78","reference":[{"key":"10.1016\/bs.apcsb.2023.12.016_bib1","doi-asserted-by":"crossref","unstructured":"Adzhubei, I., Jordan, D. M., & Sunyaev, S. R. (2013). \u2018Predicting functional effect of human missense mutations using PolyPhen-2\u2019, Current protocols in human genetics\/editorial board, Jonathan L. Haines \u2026 [et al.], Chapter 7, p. Unit7.20.","DOI":"10.1002\/0471142905.hg0720s76"},{"issue":"W1","key":"10.1016\/bs.apcsb.2023.12.016_bib2","doi-asserted-by":"crossref","first-page":"W344","DOI":"10.1093\/nar\/gkw408","article-title":"ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules","volume":"44","author":"Ashkenazy","year":"2016","journal-title":"Nucleic acids research"},{"issue":"2","key":"10.1016\/bs.apcsb.2023.12.016_bib3","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0282304","article-title":"Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation","volume":"18","author":"Ataei","year":"2023","journal-title":"PLOS ONE"},{"issue":"Suppl 2","key":"10.1016\/bs.apcsb.2023.12.016_bib4","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1186\/s13052-018-0563-0","article-title":"Possible strategies to cross the blood-brain barrier","volume":"44","author":"Bellettato","year":"2018","journal-title":"Italian journal of pediatrics"},{"issue":"1","key":"10.1016\/bs.apcsb.2023.12.016_bib5","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1003440","article-title":"PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations","volume":"10","author":"Bendl","year":"2014","journal-title":"PLoS computational biology"},{"key":"10.1016\/bs.apcsb.2023.12.016_bib6","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1002\/ajmg.a.30118","article-title":"Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients","volume":"129A","author":"Bern\u00e1","year":"2004","journal-title":"Am. J. Med. Genet."},{"issue":"Suppl 2","key":"10.1016\/bs.apcsb.2023.12.016_bib7","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1038\/bmt.2008.275","article-title":"Metachromatic leukodystrophy: an overview of current and prospective treatments","volume":"42","author":"Biffi","year":"2008","journal-title":"Bone marrow transplantation"},{"key":"10.1016\/bs.apcsb.2023.12.016_bib8","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1016\/j.csbj.2020.02.021","article-title":"iStable 2.0: Predicting protein thermal stability changes by integrating various characteristic modules","volume":"18","author":"Chen","year":"2020","journal-title":"Computational and structural biotechnology journal"},{"issue":"4","key":"10.1016\/bs.apcsb.2023.12.016_bib9","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1002\/prot.20810","article-title":"Prediction of protein stability changes for single-site mutations using support vector machines","volume":"62","author":"Cheng","year":"2006","journal-title":"Proteins"},{"issue":"2-3","key":"10.1016\/bs.apcsb.2023.12.016_bib10","doi-asserted-by":"crossref","DOI":"10.1016\/S0162-0134(03)00176-4","article-title":"Crystal structure of a covalent intermediate of endogenous human arylsulfatase A","volume":"96","author":"Chruszcz","year":"2003","journal-title":"Journal of inorganic biochemistry"},{"issue":"1","key":"10.1016\/bs.apcsb.2023.12.016_bib11","doi-asserted-by":"crossref","DOI":"10.1093\/bioinformatics\/btac793","article-title":"Annotation of biologically relevant ligands in UniProtKB using ChEBI","volume":"39","author":"Coudert","year":"2023","journal-title":"Bioinformatics"},{"issue":"20","key":"10.1016\/bs.apcsb.2023.12.016_bib12","doi-asserted-by":"crossref","DOI":"10.3390\/ijms21207606","article-title":"Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter","volume":"21","author":"Dash","year":"2020","journal-title":"International journal of molecular sciences"},{"key":"10.1016\/bs.apcsb.2023.12.016_bib13","unstructured":"Desmond (2021). Available at: https:\/\/www.schrodinger.com\/products\/desmond (Accessed: 24 June 2023)."},{"key":"10.1016\/bs.apcsb.2023.12.016_bib14","doi-asserted-by":"crossref","first-page":"725","DOI":"10.2147\/TCRM.S119967","article-title":"Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations","volume":"13","author":"Dehghan","year":"2017","journal-title":"Ther Clin Risk Manag"},{"issue":"6","key":"10.1016\/bs.apcsb.2023.12.016_bib15","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.7150\/thno.21254","article-title":"Current Strategies for Brain Drug Delivery","volume":"8","author":"Dong","year":"2018","journal-title":"Theranostics"},{"key":"10.1016\/bs.apcsb.2023.12.016_bib16","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1007\/s12031-013-0006-8","article-title":"An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene","volume":"50","author":"Galla","year":"2013","journal-title":"J Mol Neurosci"},{"issue":"1","key":"10.1016\/bs.apcsb.2023.12.016_bib17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1055\/s-0030-1253412","article-title":"Metachromatic leukodystrophy--an update","volume":"41","author":"Gieselmann","year":"2010","journal-title":"Neuropediatrics"},{"issue":"4","key":"10.1016\/bs.apcsb.2023.12.016_bib18","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1590\/1678-4685-gmb-2016-0110","article-title":"Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder","volume":"40","author":"Golchin","year":"2017","journal-title":"Genet Mol Biol"},{"issue":"11","key":"10.1016\/bs.apcsb.2023.12.016_bib19","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1478","article-title":"Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism","volume":"8","author":"Guo","year":"2020","journal-title":"Molecular Genetics & Genomic Medicine"},{"issue":"11","key":"10.1016\/bs.apcsb.2023.12.016_bib20","doi-asserted-by":"crossref","first-page":"E220","DOI":"10.1002\/humu.20851","article-title":"Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles","volume":"29","author":"Grossi","year":"2008","journal-title":"Human mutation"},{"issue":"4","key":"10.1016\/bs.apcsb.2023.12.016_bib21","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1001\/archneur.1992.00530280095028","article-title":"Psychiatric disturbances in metachromatic leukodystrophy. Insights into the neurobiology of psychosis","volume":"49","author":"Hyde","year":"1992","journal-title":"Archives of neurology"},{"issue":"1","key":"10.1016\/bs.apcsb.2023.12.016_bib22","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/s12031-018-1141-z","article-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","volume":"66","author":"Issa","year":"2018","journal-title":"Journal of Molecular Neuroscience: MN."},{"issue":"24","key":"10.1016\/bs.apcsb.2023.12.016_bib23","doi-asserted-by":"crossref","first-page":"2938","DOI":"10.1093\/bioinformatics\/btn564","article-title":"SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap","volume":"24","author":"Johnson","year":"2008","journal-title":"Bioinformatics"},{"key":"10.1016\/bs.apcsb.2023.12.016_bib24","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/1750-1172-9-18","article-title":"Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort","volume":"9","author":"Kehrer","year":"2014","journal-title":"Orphanet journal of rare diseases"},{"issue":"7","key":"10.1016\/bs.apcsb.2023.12.016_bib25","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/BF00314905","article-title":"Adult-onset metachromatic leucodystrophy presenting without psychiatric symptoms","volume":"236","author":"Klemm","year":"1989","journal-title":"Journal of neurology"},{"key":"10.1016\/bs.apcsb.2023.12.016_bib26","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/978-1-61779-588-6_10","article-title":"Methods of protein structure comparison","volume":"857","author":"Kufareva","year":"2012","journal-title":"Methods in molecular biology"},{"issue":"2","key":"10.1016\/bs.apcsb.2023.12.016_bib27","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/s12013-013-9705-6","article-title":"Computational SNP Analysis: Current Approaches and Future Prospects","volume":"68","author":"Kumar","year":"2013","journal-title":"Cell biochemistry and biophysics"},{"issue":"Web Server issue","key":"10.1016\/bs.apcsb.2023.12.016_bib28","doi-asserted-by":"crossref","first-page":"W299","DOI":"10.1093\/nar\/gki370","article-title":"ConSurf 2005: the projection of evolutionary conservation scores of residues on protein structures","volume":"33","author":"Landau","year":"2005","journal-title":"Nucleic acids research"},{"issue":"3","key":"10.1016\/bs.apcsb.2023.12.016_bib29","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1007\/s00894-010-0746-0","article-title":"Molecular dynamics studies of the 3D structure and planar ligand binding of a quadruplex dimer","volume":"17","author":"Li","year":"2011","journal-title":"Journal of molecular modeling"},{"key":"10.1016\/bs.apcsb.2023.12.016_bib30","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/bs.apcsb.2023.01.003","article-title":"Controlling cell proliferation by targeting cyclin-dependent kinase 6 using drug repurposing approach","volume":"135","author":"Madhana Priya","year":"2023","journal-title":"Advances in protein chemistry and structural biology"},{"issue":"2","key":"10.1016\/bs.apcsb.2023.12.016_bib31","doi-asserted-by":"crossref","DOI":"10.1242\/jcs.221739","article-title":"Lysosomal storage disorders - challenges, concepts and avenues for therapy: beyond rare diseases","volume":"132","author":"Marques","year":"2019","journal-title":"Journal of cell science"},{"issue":"4","key":"10.1016\/bs.apcsb.2023.12.016_bib32","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.bbmt.2013.01.010","article-title":"Neurodevelopmental outcomes of umbilical cord blood transplantation in metachromatic leukodystrophy","volume":"19","author":"Martin","year":"2013","journal-title":"Biology of blood and marrow transplantation: journal of the American Society for Blood and Marrow Transplantation"},{"issue":"1","key":"10.1016\/bs.apcsb.2023.12.016_bib33","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1517\/14712598.5.1.55","article-title":"Gene therapy of metachromatic leukodystrophy","volume":"5","author":"Matzner","year":"2005","journal-title":"Expert opinion on biological therapy"},{"key":"10.1016\/bs.apcsb.2023.12.016_bib34","series-title":"Lysosomes: Biology, Diseases, and Therapeutics","author":"Maxfield","year":"2016"},{"key":"10.1016\/bs.apcsb.2023.12.016_bib35","series-title":"Lysosomal Storage Disorders: A Practical Guide","author":"Mehta","year":"2022"},{"key":"10.1016\/bs.apcsb.2023.12.016_bib36","doi-asserted-by":"crossref","DOI":"10.1136\/bcr.01.2010.2631","article-title":"Diffusion and ADC-map images detect ongoing demyelination on subcortical white matter in an adult metachromatic leukodystrophy patient with autoimmune Hashimoto thyroiditis","volume":"2010","author":"Miura","year":"2010","journal-title":"BMJ case reports"},{"issue":"3","key":"10.1016\/bs.apcsb.2023.12.016_bib37","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1093\/bioinformatics\/btu655","article-title":"SNPsnap: a Web-based tool for identification and annotation of matched SNPs","volume":"31","author":"Pers","year":"2015","journal-title":"Bioinformatics"},{"key":"10.1016\/bs.apcsb.2023.12.016_bib39","doi-asserted-by":"crossref","DOI":"10.1007\/s11011-023-01221-7","article-title":"Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease","author":"Sundarrajan","year":"2023","journal-title":"Metab Brain Dis"},{"key":"10.1016\/bs.apcsb.2023.12.016_bib40","doi-asserted-by":"crossref","DOI":"10.3389\/fmed.2020.576221","article-title":"Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches","volume":"7","author":"Shaimardanova","year":"2020","journal-title":"Frontiers in Medicine"},{"issue":"5","key":"10.1016\/bs.apcsb.2023.12.016_bib41","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1007852","article-title":"Single nucleotide polymorphisms affect RNA-protein interactions at a distance through modulation of RNA secondary structures","volume":"16","author":"Shatoff","year":"2020","journal-title":"PLoS computational biology"},{"issue":"4","key":"10.1016\/bs.apcsb.2023.12.016_bib42","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1136\/jmg.2005.033878","article-title":"Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral","volume":"43","author":"Tavtigian","year":"2006","journal-title":"Journal of medical genetics"},{"issue":"6","key":"10.1016\/bs.apcsb.2023.12.016_bib43","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1007\/s11011-019-00465-6","article-title":"Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA","volume":"34","author":"Tanwar","year":"2019","journal-title":"Metab Brain Dis"},{"key":"10.1016\/bs.apcsb.2023.12.016_bib44","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/bs.apcsb.2018.10.002","article-title":"A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher\u2019s disease","volume":"114","author":"Thirumal Kumar","year":"2019","journal-title":"Adv Protein Chem Struct Biol"},{"issue":"2","key":"10.1016\/bs.apcsb.2023.12.016_bib38","first-page":"261","article-title":"Metachromatic leukodystrophy: Disease spectrum and approaches for treatment, Best practice & research","volume":"29","author":"van Rappard","year":"2015","journal-title":"Clinical endocrinology & metabolism"},{"issue":"3","key":"10.1016\/bs.apcsb.2023.12.016_bib45","first-page":"1738","article-title":"Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations","volume":"18","author":"Wang","year":"2019","journal-title":"Experimental and therapeutic medicine"},{"issue":"4","key":"10.1016\/bs.apcsb.2023.12.016_bib46","first-page":"141","article-title":"In silico analysis for determining the deleterious nonsynonymous single nucleotide polymorphisms of genes","volume":"8","author":"Yadegari","year":"2019","journal-title":"Molecular biology research communications"},{"key":"10.1016\/bs.apcsb.2023.12.016_fur1","article-title":"Elucidating the mutational impact in causing Niemann\u2013Pick disease type C: an in silico approach","author":"Kannan","year":"2022","journal-title":"Journal of biomolecular structure & dynamics [Preprint]"}],"container-title":["Advances in Protein Chemistry and Structural Biology","Metalloproteins and Motor Proteins"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1876162323001281?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1876162323001281?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T19:10:50Z","timestamp":1753729850000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1876162323001281"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"ISBN":["9780443193446"],"references-count":47,"URL":"https:\/\/doi.org\/10.1016\/bs.apcsb.2023.12.016","relation":{},"ISSN":["1876-1623"],"issn-type":[{"value":"1876-1623","type":"print"}],"subject":[],"published":{"date-parts":[[2024]]}}}