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Biallelic rare coding variants in VAC14 was identified in a female neonate with Yunis-Varon syndrome. Cultured patient fibroblasts exhibited a YVS-like vacuolation ameliorated by ML-SA1 (show STAG1 ELISA Kits).
The similar age of onset and neurological decline in the two unrelated children define a recessive disorder resulting from compound heterozygosity for deleterious variants of VAC14.
Rab7 GAP TBC1D15 (show TBC1D15 ELISA Kits) with Vac14.
a novel regulatory mechanism whereby ArPIKfyve enhances Sac3 abundance by attenuating Sac3 proteasome-dependent degradation and suggest that a failure of this mechanism could be the primary molecular defect in the pathogenesis of CMT4J.
the PIKfyve (show PIKFYVE ELISA Kits)-associated hVac14 protein has a major role in activating PIKfyve (show PIKFYVE ELISA Kits) and thereby regulating PtdIns(3,5)P(2) synthesis and endomembrane homeostasis in mammalian cells
describe a novel interaction between the PDZ domain (show INADL ELISA Kits) of nitric oxide synthase (show NOS ELISA Kits) and Vac14
demonstrate a coupling between the machinery for PtdIns(3,5)P2 synthesis and turnover achieved through a physical assembly of PIKfyve, ArPIKfyve, and Sac3.
The authors data indicate that the PAS (show PASK ELISA Kits) complex is organized to provide optimal PIKfyve (show PIKFYVE ELISA Kits) functionality and is maintained via ArPIKfyve homomeric and heteromeric interactions.
PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis
Thus, VAC14, PI(3,5)P(2) and/or PI(5)P play a role in controlling postsynaptic function via regulation of endocytic cycling of AMPA (show GRIA3 ELISA Kits) receptors.
The data demonstrate for the first time a physical association between functionally related PIKfyve (show PIKFYVE ELISA Kits) and ArPIKfyve in 3T3-L1 adipocytes.
report the characterization of a mouse mutant lacking Vac14, a regulator of PI(3,5)P(2) synthesis
The authors show that Vac14 exerts an effect as a scaffold for the PI(3,5)P2 regulatory complex by direct contact with the known regulators of PI(3,5)P2: Fig4, Fab1, Vac7 and Atg18 (show WIPI1 ELISA Kits).
The content of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) in endosomal membranes changes dynamically with fission and fusion events that generate or absorb intracellular transport vesicles. VAC14 is a component of a trimolecular complex that tightly regulates the level of PtdIns(3,5)P2. Other components of this complex are the PtdIns(3,5)P2-synthesizing enzyme PIKFYVE (MIM 609414) and the PtdIns(3,5)P2 phosphatase FIG4 (MIM 609390). VAC14 functions as an activator of PIKFYVE (Sbrissa et al., 2007
protein VAC14 homolog
, Tax1 (human T-cell leukemia virus type I) binding protein 1
, Tax1 (human T-cell leukemia virus type I) binding protein 2
, tax1-binding protein 2
, vacuole morphology 14
, vacuole 14 protein