{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T15:12:32Z","timestamp":1779117152798,"version":"3.51.4"},"reference-count":40,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2010,11,24]],"date-time":"2010-11-24T00:00:00Z","timestamp":1290556800000},"content-version":"unspecified","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.0015033","type":"journal-article","created":{"date-parts":[[2010,11,24]],"date-time":"2010-11-24T21:33:18Z","timestamp":1290634398000},"page":"e15033","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":62,"title":["Substrate Reduction Augments the Efficacy of Enzyme Therapy in a Mouse Model of Fabry Disease"],"prefix":"10.1371","volume":"5","author":[{"given":"John","family":"Marshall","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen M.","family":"Ashe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinesh","family":"Bangari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"KerryAnne","family":"McEachern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Lien","family":"Chuang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joshua","family":"Pacheco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane P.","family":"Copeland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Desnick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James A.","family":"Shayman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald K.","family":"Scheule","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seng H.","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2010,11,24]]},"reference":[{"key":"ref1","first-page":"3733","article-title":"\u03b1-Galactosidase A deficiency: Fabry disease.","author":"R Desnick","year":"2001"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1097\/GIM.0b013e3181bb05bb","article-title":"Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry.","volume":"11","author":"S Waldek","year":"2009","journal-title":"Genet Med"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1093\/ndt\/gfi152","article-title":"Long-term therapy with agalsidase alfa for Fabry disease: safety effects on renal function in a home infusion setting.","volume":"21","author":"R Schiffman","year":"2006","journal-title":"Nephrol Dial Transplant"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1681\/ASN.2006080816","article-title":"Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.","volume":"18","author":"DP Germain","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"77","DOI":"10.7326\/0003-4819-146-2-200701160-00148","article-title":"Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.","volume":"146","author":"M Banikazemi","year":"2007","journal-title":"Ann Intern Med"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1086\/422366","article-title":"Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.","volume":"75","author":"WR Wilcox","year":"2004","journal-title":"Am J Hum Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"e598","DOI":"10.1371\/journal.pone.0000598","article-title":"Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2mg\/kg.","volume":"2","author":"AC Vedder","year":"2007","journal-title":"PLoS ONE"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1933","DOI":"10.1046\/j.1523-1755.2002.00675.x","article-title":"Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy.","volume":"62","author":"BL Thurberg","year":"2002","journal-title":"Kidney Int"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/j.bbamcr.2008.08.009","article-title":"Treating lysosomal storage disorders: Current practice and future prospects.","volume":"1793","author":"FM Platt","year":"2009","journal-title":"Biochim Biophys Acta"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1023\/A:1025902113005","article-title":"The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type 1 (non-neuropathic) Gaucher disease: a position statement.","volume":"26","author":"TM Cox","year":"2003","journal-title":"J Inherit Metab Dis"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1182\/blood-2010-03-273151","article-title":"A Phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.","volume":"116","author":"E Lukina","year":"2010","journal-title":"Blood"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1172\/JCI9711","article-title":"Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation.","volume":"105","author":"A Abe","year":"2000","journal-title":"J Clin Invest"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"2636","DOI":"10.1681\/ASN.2005040383","article-title":"An in Vitro Model of Fabry Disease.","volume":"16","author":"L Shu","year":"2005","journal-title":"J Am Soc Nephrol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s10545-006-0473-y","article-title":"Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment.","volume":"30","author":"T Heare","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1016\/j.clinthera.2005.08.004","article-title":"An open-label, noncomparative study of miglustat in type 1 Gaucher disease: efficacy and tolerability over 24 months of treatment.","volume":"27","author":"GM Pastores","year":"2005","journal-title":"Clin Ther"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1002\/pds.1779","article-title":"Miglustat (Zavesca\u00ae) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme.","volume":"18","author":"CE Hollak","year":"2009","journal-title":"Pharmacoepidemiol Drug Saf"},{"issue":"5","key":"ref17","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1016\/j.cgh.2007.08.012","article-title":"Gastrointestinal symptoms in 342 Patients with Fabry Disease: Prevalence and response to enzyme replacement therapy.","volume":"12","author":"B Hoffman","year":"2007","journal-title":"Clin Gastroent Hepat"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.ymgme.2007.04.001","article-title":"A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease.","volume":"91","author":"K McEachern","year":"2007","journal-title":"Molec Genet Metab"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s10545-010-9072-z","article-title":"Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy.","volume":"33","author":"J Marshall","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"ref20","first-page":"A208","article-title":"Generation of a mouse model with \u03b1-galactosidase A deficiency.","volume":"59","author":"AM Wang","year":"1996","journal-title":"Am J Hum Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"2540","DOI":"10.1073\/pnas.94.6.2540","article-title":"Alpha-galactosidase A deficient mice: a model of Fabry disease.","volume":"94","author":"T Ohshima","year":"1997","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1080\/08035320600618932","article-title":"Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model.","volume":"S451","author":"DF Moore","year":"2006","journal-title":"Acta Paediatrica"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1038\/sj.mt.6300066","article-title":"Correction of the biochemical and functional deficits in Fabry mice following AAV8-mediated hepatic expression of \u03b1-galactosidase A.","volume":"15","author":"RJ Ziegler","year":"2007","journal-title":"Molec Ther"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.nbd.2008.09.001","article-title":"Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.","volume":"33","author":"LG Rodrigues","year":"2009","journal-title":"Neurobiol Dis"},{"key":"ref25","first-page":"310","article-title":"Renal involvement in Anderson-Fabry disease.","volume":"16","author":"A Sessa","year":"2003","journal-title":"J Nephrol"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1681\/ASN.2006111263","article-title":"Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.","volume":"18","author":"R Schiffmann","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"6423","DOI":"10.1073\/pnas.96.11.6423","article-title":"Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice.","volume":"96","author":"T Ohshima","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1097\/00004691-200212000-00011","article-title":"Small fiber dysfunction predominates in Fabry neuropathy.","volume":"19","author":"M Dutsch","year":"2002","journal-title":"J Clin Neurophys"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.pain.2009.06.032","article-title":"Functional and structural nerve fiber findings in heterozygote patients with Fabry disease.","volume":"145","author":"A Torvin Moller","year":"2009","journal-title":"Pain"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1002\/mus.10236","article-title":"Physiological characterization of neuropathy in Fabry&apos;s disease.","volume":"26","author":"CA Luciano","year":"2002","journal-title":"Muscle & Nerve"},{"issue":"439","key":"ref31","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1111\/j.1651-2227.2002.tb03110.x","article-title":"Pathophysiology and assessment of neuropathic pain in Fabry disease, Acta Paediatrica.","author":"R Schiffmann","year":"2002","journal-title":"International Journal of Paediatrics"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1007\/s10545-008-0900-3","article-title":"Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.","volume":"31","author":"P Vylet'al","year":"2008","journal-title":"J Inherit Metab Dis"},{"key":"ref33","first-page":"309","article-title":"Involvement of dorsal root ganglia in Fabry&apos;s disease.","volume":"20","author":"N Gadoth","year":"1983","journal-title":"J Mol Genet"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1111\/j.1742-1241.2006.01237.x","article-title":"Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature.","volume":"61","author":"O Lidove","year":"2007","journal-title":"Int J Clin Pract"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"2561","DOI":"10.1161\/CIRCULATIONAHA.108.841494","article-title":"Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy.","volume":"119","author":"BL Thurberg","year":"2009","journal-title":"Circulation"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"20960","DOI":"10.1074\/jbc.M702436200","article-title":"Caveolin-associated accumulation of globotriaosylceramide in the vascular endothelium of \u03b1-galactosidase A null mice.","volume":"282","author":"L Shu","year":"2007","journal-title":"J Biol Chem"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.ymgme.2007.09.013","article-title":"Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry.","volume":"93","author":"WR Wilcox","year":"2008","journal-title":"Molec Genet Metab"},{"key":"ref38","article-title":"Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease.","author":"M Kobayashi","year":"2008","journal-title":"J Inherit Metab Dis Online Report #003"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1007\/s10545-009-1254-1","article-title":"Psychological aspects of patients with Fabry disease.","volume":"32","author":"T Wilson Crosbie","year":"2009","journal-title":"J Inherit Metab Dis"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1016\/0092-8674(92)90030-G","article-title":"RAG-1-Deficient mice have no mature B and T lymphocytes.","volume":"68","author":"P Mombaerts","year":"1992","journal-title":"Cell"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0015033","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,14]],"date-time":"2021-11-14T03:10:08Z","timestamp":1636859408000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0015033"}},"subtitle":[],"editor":[{"given":"Raphael","family":"Schiffmann","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2010,11,24]]},"references-count":40,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2010,11,24]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0015033","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,24]]}}}