{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T09:26:51Z","timestamp":1781256411795,"version":"3.54.1"},"reference-count":27,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2013,12,26]],"date-time":"2013-12-26T00:00:00Z","timestamp":1388016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0084267","type":"journal-article","created":{"date-parts":[[2013,12,26]],"date-time":"2013-12-26T21:43:03Z","timestamp":1388094183000},"page":"e84267","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":17,"title":["Comparative Study of Structural Changes Caused by Different Substitutions at the Same Residue on \u03b1-Galactosidase A"],"prefix":"10.1371","volume":"8","author":[{"given":"Seiji","family":"Saito","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuki","family":"Ohno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Sakuraba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2013,12,26]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Desnick RJ, Ioannou YA, Eng CM (2001) \u03b1-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Sly WA, Beaudet A L, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, eighth edition. New York: McGraw-Hill. pp. 3733\u20133774.","DOI":"10.1006\/rwgn.2001.0443"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1001\/archneur.63.3.453","article-title":"Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome","volume":"63","author":"CS Nance","year":"2006","journal-title":"Arch Neurol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmg.38.11.750","article-title":"Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males","volume":"38","author":"KD MacDermot","year":"2001","journal-title":"J Med Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1056\/NEJM199508033330504","article-title":"An atypical variant of Fabry&apos;s disease in men with left ventricular hypertrophy","volume":"333","author":"S Nakao","year":"2001","journal-title":"New Engl J Med"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmg.38.11.769","article-title":"Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females","volume":"38","author":"KD MacDermot","year":"2001","journal-title":"J Med Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.jmb.2004.01.035","article-title":"The molecular defect leading to Fabry disease: Structure of human \u03b1-galactosidase","volume":"337","author":"SC Garman","year":"2004","journal-title":"J Mol Biol"},{"key":"ref7","doi-asserted-by":"crossref","unstructured":"Garman SC (2007) Structure-function relationships in alpha-galactosidase A. Acta Paediatr Suppl 96: 6\u201316.","DOI":"10.1111\/j.1651-2227.2007.00198.x"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1007\/s10038-008-0316-9","article-title":"Structural characterization of mutant alpha-galactosidases causing Fabry disease","volume":"53","author":"K Sugawara","year":"2008","journal-title":"J Hum Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/jhg.2010.5","article-title":"Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information","volume":"55","author":"S Saito","year":"2010","journal-title":"J Hum Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1002\/jcc.540120314","article-title":"Algorithms for calculating excluded volume and its derivatives as a function of molecular conformation and their use in energy minimization","volume":"12","author":"C Kundrot","year":"1991","journal-title":"J Comp Chem"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1002\/jcc.540160702","article-title":"Accurate modeling of the intramolecular electrostatic energy of proteins","volume":"16","author":"M Dudek","year":"1995","journal-title":"J Comput Chem"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1063\/1.474409","article-title":"Reaction field methods for off-center multipoles","volume":"107","author":"Y Kong","year":"1997","journal-title":"J Chem Phys"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"9725","DOI":"10.1021\/jp982255t","article-title":"Analysis and application of potential energy smoothing for global optimization","volume":"B102","author":"RV Pappu","year":"1998","journal-title":"J Phys Chem"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"5933","DOI":"10.1021\/jp027815+","article-title":"Polarizable atomic multipole water model for molecular mechanics simulation","volume":"B107","author":"P Ren","year":"2003","journal-title":"J Phys Chem"},{"key":"ref15","first-page":"827","article-title":"A solution for the best rotation to relate two sets of vectors","volume":"A32","author":"W Kabsch","year":"1976","journal-title":"Acta Crystallogr"},{"key":"ref16","first-page":"922","article-title":"A discussion of the solution for the best rotation to relate two sets of vectors","volume":"A34","author":"W Kabsch","year":"1978","journal-title":"Acta Crystallogr"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1007\/s100380200020","article-title":"Molecular and structural studies of the GM2 gangliosidosis 0 variant","volume":"47","author":"H Sakuraba","year":"2002","journal-title":"J Hum Genet"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10038-003-0098-z","article-title":"Structural and immunocytochemical studies on \u03b1-<italic>N<\/italic>-acetylgalactosaminidase deficiency (Schindler\/Kanzaki disease)","volume":"49","author":"H Sakuraba","year":"2004","journal-title":"J Hum Genet"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/j.ymgme.2007.11.017","article-title":"Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: Insight into mucopolysaccharidosis type VI","volume":"93","author":"S Saito","year":"2008","journal-title":"Mol Genet Metab"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.3758\/BRM.41.4.1149","article-title":"Statistical power analyses using G*Power 3.1: Tests for correlation and regression analyses","volume":"41","author":"F Faul","year":"2009","journal-title":"Behavior Research Methods"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/j.ymgme.2012.01.010","article-title":"Fabry disease: Biochemical, pathological and structural studies of the \u03b1-galactosidase A with E66Q amino acid substitution","volume":"105","author":"T Togawa","year":"2012","journal-title":"Mol Genet Metab"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/504601","article-title":"High incidence of later-onset Fabry disease revealed by newborn screening","volume":"79","author":"M Spada","year":"2006","journal-title":"Am J Hum Genet"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1002\/humu.21074","article-title":"Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G&gt;A (IVS4+919G&gt;A)","volume":"30","author":"WL Hwu","year":"2009","journal-title":"Hum Mutat"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1002\/ajmg.c.30291","article-title":"Newborn screening for lysosomal storage disorders","volume":"157","author":"K Nakamura","year":"2011","journal-title":"Am J Med Genet"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1086\/318809","article-title":"A phase 1\/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies","volume":"68","author":"CM Eng","year":"2001","journal-title":"Am J Hum Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry&apos;s disease","volume":"345","author":"CM Eng","year":"2001","journal-title":"N Engl J Med"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"3653","DOI":"10.1073\/pnas.97.1.365","article-title":"Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease","volume":"97","author":"R Schiffmann","year":"2000","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0084267","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,9]],"date-time":"2020-05-09T16:23:44Z","timestamp":1589041424000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0084267"}},"subtitle":[],"editor":[{"given":"Eugene A.","family":"Permyakov","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2013,12,26]]},"references-count":27,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2013,12,26]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0084267","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,26]]}}}