{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:29:12Z","timestamp":1790713752825,"version":"4.1.0"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,2,15]]},"DOI":"10.1093\/hmg\/ddp523","type":"journal-article","created":{"date-parts":[[2009,11,21]],"date-time":"2009-11-21T01:30:37Z","timestamp":1258767037000},"page":"563-572","source":"Crossref","is-referenced-by-count":84,"title":["Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand \u03b2-glucocerebrosidase"],"prefix":"10.1093","volume":"19","author":[{"given":"Judith","family":"Blanz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann","family":"Groth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Zachos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Wehling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Saftig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Schwake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2009,11,20]]},"reference":[{"key":"key\n\t\t\t\t20170522140245_DDP523C1","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/j.ajhg.2007.12.019","article-title":"Array-based gene discovery with three unrelated subjects shows SCARB2\/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis","volume":"82","author":"Berkovic","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522140245_DDP523C2","doi-asserted-by":"crossref","first-page":"2238","DOI":"10.1093\/hmg\/ddn124","article-title":"A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome","volume":"17","author":"Balreira","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522140245_DDP523C3","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.ymgme.2009.04.011","article-title":"Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme","volume":"97","author":"Dardis","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"key\n\t\t\t\t20170522140245_DDP523C4","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1093\/hmg\/ddg062","article-title":"LIMP-2\/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice","volume":"12","author":"Gamp","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522140245_DDP523C5","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1113\/jphysiol.2006.116889","article-title":"Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1\/KCNE1 in marginal cells of the stria vascularis","volume":"576","author":"Knipper","year":"2006","journal-title":"J. Physiol."},{"key":"key\n\t\t\t\t20170522140245_DDP523C6","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/0888-7543(95)80114-2","article-title":"The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family: cellular distribution, chromosomal location, and genetic evolution","volume":"25","author":"Calvo","year":"1995","journal-title":"Genomics"},{"key":"key\n\t\t\t\t20170522140245_DDP523C7","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/S0962-8924(03)00005-9","article-title":"At the acidic edge: emerging functions for lysosomal membrane proteins","volume":"13","author":"Eskelinen","year":"2003","journal-title":"Trends Cell. Biol."},{"key":"key\n\t\t\t\t20170522140245_DDP523C8","doi-asserted-by":"crossref","first-page":"4117","DOI":"10.1242\/jcs.00075","article-title":"A role for the lysosomal membrane protein LGP85 in the biogenesis and maintenance of endosomal and lysosomal morphology","volume":"115","author":"Kuronita","year":"2002","journal-title":"J. Cell. Sci."},{"key":"key\n\t\t\t\t20170522140245_DDP523C9","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1111\/j.1600-0854.2005.00325.x","article-title":"The NH(2)-terminal transmembrane and lumenal domains of LGP85 are needed for the formation of enlarged endosomes\/lysosomes","volume":"6","author":"Kuronita","year":"2005","journal-title":"Traffic"},{"key":"key\n\t\t\t\t20170522140245_DDP523C10","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.cell.2007.10.018","article-title":"LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase","volume":"131","author":"Reczek","year":"2007","journal-title":"Cell"},{"issue":"suppl","key":"key\n\t\t\t\t20170522140245_DDP523C11","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1080\/08035320600619039","article-title":"Gaucher disease: multiple lessons from a single gene disorder","volume":"95","author":"Beutler","year":"2006","journal-title":"Acta Paediatr."},{"key":"key\n\t\t\t\t20170522140245_DDP523C12","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1056\/NEJM199111073251906","article-title":"Gaucher's disease","volume":"325","author":"Beutler","year":"1991","journal-title":"N. Engl. J. Med."},{"key":"key\n\t\t\t\t20170522140245_DDP523C13","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1111\/j.1471-4159.1982.tb07950.x","article-title":"Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease","volume":"39","author":"Nilsson","year":"1982","journal-title":"J. Neurochem."},{"key":"key\n\t\t\t\t20170522140245_DDP523C14","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/0006-291X(65)90743-6","article-title":"Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease","volume":"18","author":"Brady","year":"1965","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"key\n\t\t\t\t20170522140245_DDP523C15","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1111\/j.1399-0004.1985.tb00229.x","article-title":"Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants","volume":"27","author":"Nilsson","year":"1985","journal-title":"Clin. Genet."},{"key":"key\n\t\t\t\t20170522140245_DDP523C16","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1203\/01.PDR.0000049515.79882.94","article-title":"Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup","volume":"53","author":"Park","year":"2003","journal-title":"Pediatr. Res."},{"key":"key\n\t\t\t\t20170522140245_DDP523C17","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1002\/humu.20676","article-title":"Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)","volume":"29","author":"Hruska","year":"2008","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t20170522140245_DDP523C18","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1126\/science.252.5009.1162","article-title":"Predicting coiled coils from protein sequences","volume":"252","author":"Lupas","year":"1991","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522140245_DDP523C19","doi-asserted-by":"crossref","first-page":"16818","DOI":"10.1016\/S0021-9258(18)55375-8","article-title":"Cloning, sequencing, and expression of a cDNA encoding rat LIMP II, a novel 74-kDa lysosomal membrane protein related to the surface adhesion protein CD36","volume":"266","author":"Vega","year":"1991","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522140245_DDP523C20","doi-asserted-by":"crossref","first-page":"4862","DOI":"10.1016\/S0021-9258(19)67728-8","article-title":"Mannose 6-phosphate-independent membrane association of cathepsin D, glucocerebrosidase, and sphingolipid-activating protein in HepG2 cells","volume":"266","author":"Rijnboutt","year":"1991","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522140245_DDP523C21","doi-asserted-by":"crossref","first-page":"18929","DOI":"10.1016\/S0021-9258(17)46716-0","article-title":"Identification, primary structure, and distribution of CLA-1, a novel member of the CD36\/LIMPII gene family","volume":"268","author":"Calvo","year":"1993","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522140245_DDP523C22","doi-asserted-by":"crossref","first-page":"re3","DOI":"10.1126\/scisignal.272re3","article-title":"CD36, a scavenger receptor involved in immunity, metabolism, angiogenesis, and behavior","volume":"2","author":"Silverstein","year":"2009","journal-title":"Sci. Signal"},{"key":"key\n\t\t\t\t20170522140245_DDP523C23","doi-asserted-by":"crossref","first-page":"16888","DOI":"10.1073\/pnas.0602126103","article-title":"CLA-1 and its splicing variant CLA-2 mediate bacterial adhesion and cytosolic bacterial invasion in mammalian cells","volume":"103","author":"Vishnyakova","year":"2006","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522140245_DDP523C24","doi-asserted-by":"crossref","first-page":"17551","DOI":"10.1074\/jbc.272.28.17551","article-title":"Characterization of CLA-1, a human homologue of rodent scavenger receptor BI, as a receptor for high density lipoprotein and apoptotic thymocytes","volume":"272","author":"Murao","year":"1997","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522140245_DDP523C25","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1172\/JCI112918","article-title":"Isolation of the thrombospondin membrane receptor","volume":"79","author":"Asch","year":"1987","journal-title":"J. Clin. Invest."},{"key":"key\n\t\t\t\t20170522140245_DDP523C26","doi-asserted-by":"crossref","first-page":"4855","DOI":"10.1074\/jbc.273.9.4855","article-title":"Lysosomal integral membrane protein II binds thrombospondin-1. Structure-function homology with the cell adhesion molecule CD36 defines a conserved recognition motif","volume":"273","author":"Crombie","year":"1998","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522140245_DDP523C27","doi-asserted-by":"crossref","first-page":"16269","DOI":"10.1016\/S0021-9258(18)55288-1","article-title":"Targeting of lysosomal integral membrane protein LIMP II. The tyrosine-lacking carboxyl cytoplasmic tail of LIMP II is sufficient for direct targeting to lysosomes","volume":"266","author":"Vega","year":"1991","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522140245_DDP523C28","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1038\/nm.1992","article-title":"Scavenger receptor B2 is a cellular receptor for enterovirus 71","volume":"15","author":"Yamayoshi","year":"2009","journal-title":"Nat. Med."},{"key":"key\n\t\t\t\t20170522140245_DDP523C29","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1086\/302925","article-title":"Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease","volume":"66","author":"Koprivica","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522140245_DDP523C30","doi-asserted-by":"crossref","first-page":"2387","DOI":"10.1093\/hmg\/ddi240","article-title":"ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity","volume":"14","author":"Ron","year":"2005","journal-title":"Hum. Mol. Genet."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/19\/4\/563\/17250474\/ddp523.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,14]],"date-time":"2021-10-14T15:04:28Z","timestamp":1634223868000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddp523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,11,20]]},"references-count":30,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2009,11,20]]},"published-print":{"date-parts":[[2010,2,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddp523","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2009,11,20]]}}}