Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations

Molecular Genetics and Metabolism

Volumn 109, Issue 4, 2013, Pages 402-403

  McNeill, Alisdair ^a   Healy, Daniel G ^b   Schapira, Anthony H V ^a   Taanman, Jan Willem ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b BEAUMONT HOSPITAL   (Ireland)

Author keywords

Fibroblast; Glucosylceramidase; Parkinson's disease

Indexed keywords

BETA ACTIN; GLUCOSYLCERAMIDASE; PARKIN; UBIQUITIN PROTEIN LIGASE;

ALLELE; ENDOPLASMIC RETICULUM ASSOCIATED DEGRADATION; ENZYME ACTIVITY; FIBROBLAST; FIBROBLAST CULTURE; HUMAN; LETTER; MOLECULAR WEIGHT; MUTATIONAL ANALYSIS; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN GLYCOSYLATION; UNFOLDED PROTEIN RESPONSE; WESTERN BLOTTING; ENZYMOLOGY; GENETICS; METABOLISM; MUTATION;

ALLELES; FIBROBLASTS; GLUCOSYLCERAMIDASE; HUMANS; MUTATION; PROTEOLYSIS; UBIQUITIN-PROTEIN LIGASES;

EID: 84880780006     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.06.002     Document Type: Letter

References (4)

1. Ron I., Horowitz M. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum. Mol. Genet. 2005, 14:2387-2398.
2. Ron I., Rapaport D., Horowitz M. Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease. Hum. Mol. Genet. 2010, 19:3771-3781.
3. Kilarski L.L., Pearson J.P., Newsway V., et al. Systematic review and UK based study of Park 2 (Parkin), PINK1, Park7 (DJ-1), and LRRK2 in early onset Parkinson's disease. Mov. Disord. 2012, 12:1522-1529.
4. Dery M.A., Jodoin J., Ursini-Siegel J., et al. Endoplasmic reticulum stress induces PRNP prion protein gene expression in breast cancer. Breast Cancer Res. 2013, 15:R22.