Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand β-glucocerebrosidase-Reference-Cited by-同舟云学术

Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand β-glucocerebrosidase

Published:2009-11-20 Issue:4 Volume:19 Page:563-572
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Blanz Judith,Groth Johann,Zachos Christina,Wehling Christina,Saftig Paul,Schwake Michael

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/19/4/563/17250474/ddp523.pdf

Reference30 articles.

1. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis;Berkovic;Am. J. Hum. Genet.,2008

2. A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome;Balreira;Hum. Mol. Genet.,2008

3. Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme;Dardis;Mol. Genet. Metab.,2009

4. LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice;Gamp;Hum. Mol. Genet.,2003

5. Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis;Knipper;J. Physiol.,2006

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