A mutation in SCARB2 is a modifier in gaucher disease

Human Mutation

Volumn 32, Issue 11, 2011, Pages 1232-1238

  Velayati, Arash ^a   Depaolo, John ^a   Gupta, Nidhi ^a   Choi, Jae H ^a   Moaven, Nima ^a   Westbroek, Wendy ^a   Goker Alpan, Ozlem ^a   Goldin, Ehud ^a   Stubblefield, Barbara K ^a   Kolodny, Edwin ^b   Tayebi, Nahid ^a   Sidransky, Ellen ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Gaucher disease; Glucocerebrosidase; LIMP 2; Myoclonic epilepsy; SCARB2

Indexed keywords

APOMORPHINE; BROMOCRIPTINE; GLUCOSYLCERAMIDASE; LITHIUM; LYSOSOMAL INTEGRAL MEMBRANE PROTEIN TYPE 2; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; GAUCHER DISEASE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; IMMUNOFLUORESCENCE; MEDICAL HISTORY; MYOCLONUS EPILEPSY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; SIBLING; WESTERN BLOTTING;

ADULT; EPILEPSIES, MYOCLONIC; FEMALE; GAUCHER DISEASE; HUMANS; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; RECEPTORS, SCAVENGER;

EID: 80054741196     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21566     Document Type: Article

References (16)

1. Balreira A, Gaspar P, Caiola D, Chaves J, Beirão I, Lima JL, Azevedo JE, Miranda MC. 2008. A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet 17:2238-2243.
2. Bendikov-Bar I, Ron I, Filocamo M, Horowitz M. 2011. Charaterization of the ERAD process of the L444P mutant glucocerebrosidase variant. Blood Cells Mol Dis 46:4-10.
3. Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-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. 2008. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet 82:673-684.
4. Beutler E, Grabowski GA. 2001. Gaucher disease. In: Scriver CBA, Sly W, Valle D editors. The metabolic & molecular bases of inherited disease. New York: McGraw-Hill. p 3635-3668.
5. Blanz J, Groth J, Zachos C, Wehling C, Saftig P, Schwake M. 2010. Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand {beta}-glucocerebrosidase. Hum Mol Genet 19:563-572.
6. Dardis A, Filocamo M, Grossi S, Ciana G, Franceschetti S, Dominissini S, Rubboli G, Di Rocco M, Bembi B. 2009. Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme. Mol Genet Metab 97:309-311.
7. Dipple KM, McCabe ER. 2000. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet 66:1729-1735.
8. Eyal N, Firon N, Wilder S, Kolodny EH, Horowitz M. 1991. Three unique base pair changes in a family with Gaucher disease. Hum Genet 87:328-332.
9. Hruska KS, LaMarca ME, Scott CR, Sidransky E. 2008. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 29:567-583.
10. Raghavan SS, Topol J, Kolodny EH. 1980. Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease. Am J Hum Genet 32:158-173.
11. Reczek D, Schwake M, Schröder J, Hughes H, Blanz J, Jin X, Brondyk W, Van Patten S, Edmunds T, Saftig P. 2007. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell 131:770-783.
12. Ron I, Horowitz M. 2008. Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients. Mol Genet Metab 93:426-436.
13. Ron I, Horowitz M. 2005. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum Mol Genet 14:2387-2398.
14. Stone D, Tayebi N, Orvisky E, Stubblefield BK, Madike V, Sidransky E. 2000. Glucocerebrosidase mutations encountered in patients with type 2 Gaucher disease. Hum Mutat 15:181-188.
15. Tabuchi N, Akasaki K, Tsuji H. 2000. Two acidic amino acid residues, ASP(470) and Glu(471) contained in the carboxyl cytoplasmic tail of a major lysosomal membrane protein, LGP85/LIMP II, are important for its accumulation in secondary lysosomes. Biochem Biophys Res Commun 270:557-563.
16. Tylki-Szymańska A, Czartoryska B, Vanier MT, Poorthuis BJ, Groener JA, Ługowska A, Millat G, Vaccaro AM, Jurkiewicz E. 2007. Non-neuronopathic Gaucher disease due to saposin C deficiency. Clin Genet 72:538-542.