Rescue of Glaucoma-Causing Mutant Myocilin Thermal Stability by Chemical Chaperones
نویسندگان
چکیده
منابع مشابه
Functional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical Chaperones
Multidrug resistance protein 3 (MDR3, ABCB4) is a hepatocellular membrane protein that mediates biliary secretion of phosphatidylcholine. Null mutations in ABCB4 gene give rise to severe early-onset cholestatic liver disease. We have previously shown that the disease-associated mutations p.G68R, p.G228R, p.D459H, and p.A934T resulted in retention of ABCB4 in the endoplasmic reticulum, thus fail...
متن کاملChemical Chaperones Improve Protein Secretion and Rescue Mutant Factor VIII in Mice with Hemophilia A
Inefficient intracellular protein trafficking is a critical issue in the pathogenesis of a variety of diseases and in recombinant protein production. Here we investigated the trafficking of factor VIII (FVIII), which is affected in the coagulation disorder hemophilia A. We hypothesized that chemical chaperones may be useful to enhance folding and processing of FVIII in recombinant protein produ...
متن کاملIntracellular sequestration of hetero-oligomers formed by wild-type and glaucoma-causing myocilin mutants.
PURPOSE To investigate mechanism(s) by which mutations in the olfactomedin domain of myocilin (MYOC), also known as the trabecular meshwork-induced glucocorticoid response (TIGR) gene, cause autosomal dominant open-angle glaucoma, the structure and properties of wild-type (WT) MYOC protein were examined, when expressed alone or simultaneously with the Q368X or K423E disease-associated polypepti...
متن کاملCorrection of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte.
PURPOSE To characterize a novel Asp384Asn (D384N) mutant myocilin (MYOC) that causes juvenile-onset open-angle glaucoma (JOAG) and investigate the correction of mutant phenotype by a natural osmolyte, trimethylamine N-oxide (TMAO). METHODS A Chinese JOAG family was recruited and genomic DNA was extracted from peripheral blood obtained from 44 family members. Coding regions of the MYOC were se...
متن کاملGenetic dissection of myocilin glaucoma.
Primary open-angle glaucoma (POAG) is a complex disease with unknown causes. However, in the past decade, POAG has been linked to six chromosomal regions, of which the gene MYOC encoding myocilin and the gene OPTN encoding optineurin have been identified to harbor causal mutations (disease-causing variants, DCV). POAG caused by DCV at MYOC has been termed "myocilin glaucoma". Clinically, DCV at...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: ACS Chemical Biology
سال: 2010
ISSN: 1554-8929,1554-8937
DOI: 10.1021/cb900282e