Citations for
1GBA, SCARB2
LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance.
Rothaug M, Zunke F, Mazzulli JR, Schweizer M, Altmeppen H, Lüllmann-Rauch R, Kallemeijn WW, Gaspar P, Aerts JM, Glatzel M, Saftig P, Krainc D, Schwake M, Blanz J.
Proc Natl Acad Sci U S A 111(43):15573-8. doi: 10.1073/pnas.1405700111. Epub 2014 Oct 14. 2014
2GBA, SCARB2
LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance.
Rothaug M, Zunke F, Mazzulli JR, Schweizer M, Altmeppen H, Lüllmann-Rauch R, Kallemeijn WW, Gaspar P, Aerts JM, Glatzel M, Saftig P, Krainc D, Schwake M, Blanz J.
Proc Natl Acad Sci U S A 111(43):15573-8. doi: 10.1073/pnas.1405700111. Epub 2014 Oct 14. 2014
3SCARB2
Functional comparison of SCARB2 and PSGL1 as receptors for enterovirus 71.
Yamayoshi S, Ohka S, Fujii K, Koike S.
J Virol 87(6):3335-47. doi: 10.1128/JVI.02070-12. Epub 2013 Jan 9. 2013
4AMRF, SCARB2
Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.
Blanz J, Groth J, Zachos C, Wehling C, Saftig P, Schwake M.
Hum Mol Genet 19(4):563-72. Epub 2009 Nov 20. 2010
5AMRF, SCARB2
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF.
Ann Neurol 66(4):532-6.PMID: 19847901 2009
6SCARB2, AMRF
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, LŸllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M.
Am J Hum Genet 82(3):673-84. Epub 2008 Feb 28. 2008
7AMRF, SCARB2
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
Balreira A, Gaspar P, Caiola D, Chaves J, Beirão I, Lima JL, Azevedo JE, Miranda MC.
Hum Mol Genet 17(14):2238-43. Epub 2008 Apr 17. 2008
8CTSE, SCARB1, SCARB2, LAMP1, LAMP2
Cathepsin E deficiency induces a novel form of lysosomal storage disorder showing the accumulation of lysosomal membrane sialoglycoproteins and the elevation of lysosomal pH in macrophages.
Yanagawa M, Tsukuba T, Nishioku T, Okamoto Y, Okamoto K, Takii R, Terada Y, Nakayama KI, Kadowaki T, Yamamoto K.
J Biol Chem 282(3):1851-62. Epub 2006 Nov 9. 2007
9SCARB2, GBA
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.
Reczek D, Schwake M, Schršder J, Hughes H, Blanz J, Jin X, Brondyk W, Van Patten S, Edmunds T, Saftig P.
Cell 131(4):770-83. 2007
10SCARB1, SCARB2
High density lipoprotein endocytosis by scavenger receptor SR-BII is clathrin-dependent and requires a carboxyl-terminal dileucine motif.
Eckhardt ER, Cai L, Shetty S, Zhao Z, Szanto A, Webb NR, Van der Westhuyzen DR.
J Biol Chem 281(7):4348-53. Epub 2005 Dec 19. 2006
11SCARB2
Human scavenger receptor class B type II (SR-BII) and cellular cholesterol efflux.
Mulcahy JV, Riddell DR, Owen JS.
Biochem J 377(Pt 3):741-7. 2004
12SCARB2
LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice
Gamp AC, Tanaka Y, Lullmann-Rauch R, Wittke D, D'Hooge R, De Deyn PP, Moser T, Maier H, Hartmann D, Reiss K, Illert AL, von Figura K, Saftig P.
Hum Mol Genet 12(6):631-46. 2003
13SCARB1, SCARB2
Human retinal pigment epithelial cells express scavenger receptors BI and BII.
Duncan KG, Bailey KR, Kane JP, Schwartz DM.
Biochem Biophys Res Commun 292(4):1017-22. 2002
14CD36, SCARB1, SCARB2
The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family : cellular distribution, chromosomal location, and genetic evolution.
Calvo D, et al.
Genomics 25 : 100-106. 1995