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Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles.
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Mutations in VPS33A is associated with mucopolysaccharidosis with severe systemic symptoms.
Data suggest that accumulation of autophagosomes confers cytotoxicity in a number of cell types including neurons mimicking neurodegeneration; RNA interference of combinations of MTOR (zeige FRAP1 Antikörper), VPS33A, and STX17 (zeige STX17 Antikörper) lead to accumulation of autophagosomes and cytotoxicity. (MTOR (zeige FRAP1 Antikörper) = mechanistic target of rapamycin (zeige FRAP1 Antikörper) kinase; VPS33A = vacuolar protein sorting 33A; STX17 (zeige STX17 Antikörper) = syntaxin 17 (zeige STX17 Antikörper))
The clinical phenotype and genetic studies support the suggestion that the siblings most probably have a novel disease very likely caused by a VPS33A gene defect.
association of VPS33A with HOPS (zeige ALPL Antikörper) via its interaction with VPS16 (zeige VPS16 Antikörper) is required for both endosome- and autophagosome-lysosome fusion
Melanoma cells depleted of vacuolar protein sorting 33A protein have increased nuclear localization of cis (zeige CISH Antikörper)-diaminedichloroplatinum II, increased nuclear DNA damage by platination, and increased apoptosis, resulting in increased treatment sensitivity.
VPS33A is mutated in Hermansky-Pudlak syndrome and may have a role in melanogenesis
VPS33A(D251E) mutation plays dual roles by increasing the HOPS (zeige TMUB1 Antikörper) complex assembly and its association with the autophagic SNARE (zeige VTI1B Antikörper) complex, which selectively affects the autophagosome-lysosome fusion.
These studies suggest that loss of Purkinje neurons is the most obvious neurological atrophy in the buff mutant mouse, a structural change that generates motor coordination deficits and impaired postural phenotypes.
Knockdown of Vps33a expression reduced the lysosomal storage of RANKL (zeige TNFSF11 Antikörper) and caused the accumulation of newly synthesized RANKL (zeige TNFSF11 Antikörper) in the Golgi apparatus, indicating that Vps33a is involved in transporting RANKL (zeige TNFSF11 Antikörper) from the Golgi apparatus to secretory lysosomes.
Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway.
vacuolar protein sorting 33A
, vacuolar protein sorting protein 33a
, vacuolar protein sorting-associated protein 33A
, vacuolar protein sorting 33 homolog A (S. cerevisiae)
, vacuolar protein sorting 33A homolog
, vacuolar protein sorting 33A-like
, vacuolar protein sorting-associated protein 33A-like
, vacuolar sorting protein 33a
, vacuolar protein sorting 33 homolog A