Mapping wild-type and R345W fibulin-3 intracellular interactomes
نویسندگان
چکیده
منابع مشابه
Aberrant accumulation of fibulin-3 in the endoplasmic reticulum leads to activation of the unfolded protein response and VEGF expression.
PURPOSE The inherited early-onset macular degenerative disease known as malattia leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) have been linked to a missense mutation leading to production of a mutant fibulin-3 protein (R345W). R345W is poorly secreted and accumulates in the RPE of ML/DHRD retinas. Accumulation of misfolded proteins within the endoplasmic reticulum (ER) causes a...
متن کاملFunctional Proteomics: Mapping Lipid-Protein Interactomes
Cell function is dependent upon the co-ordinated and dynamic formation of complex interaction networks between molecules of diverse biochemical properties. These networks, or interactomes, are comprised of macromolecular biopolymers; proteins, DNA, RNA and polysaccharides, in addition to non-polymer compounds such as small molecular metabolites. This myriad of interactions is highly regulated a...
متن کاملActivation of neuronal caspase-3 by intracellular accumulation of wild-type Alzheimer amyloid precursor protein.
Forced overexpression of wild-type Alzheimer amyloid precursor protein (APP) causes postmitotic neurons to degenerate. Caspase-3 (CPP32) is a principal cell death protease involved in neuronal apoptosis during physiological development and under pathological conditions. Here, we investigated whether APP overexpression activates caspase-3 in human postmitotic neurons using adenovirus-mediated ge...
متن کاملFibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2.
Fibulin-2 (FBLN2) is a new extracellular matrix protein that has been considered a candidate gene for Marfan syndrome type 2 (locus MFS2) based on chromosomal colocation at 3p24.2-p25 and disease phenotype. In the absence of polymorphic markers reported for FBLN2, direct sequencing of the gene was performed and two intragenic polymorphisms were identified. Linkage was excluded between FBLN2 and...
متن کاملIntracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins.
More than 130 different mutations in the gap junction integral plasma membrane protein connexin32 (Cx32) have been linked to the human peripheral neuropathy X-linked Charcot-Marie-Tooth disease (CMTX). How these various mutants are processed by the cell and the mechanism(s) by which they cause CMTX are unknown. To address these issues, we have studied the intracellular transport, assembly, and ...
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: Experimental Eye Research
سال: 2016
ISSN: 0014-4835
DOI: 10.1016/j.exer.2016.10.017