Genomes and Genes
Gene Symbol: hyh
Description: N-ethylmaleimide sensitive fusion protein attachment protein alpha
Alias: 1500039N14Rik, AW209189, RA81, SNAP-alpha, SNAPA, SNARE, a-SNAP, hyh, alpha-soluble NSF attachment protein, N-ethylmaleimide-sensitive factor attachment protein alpha, hydrocephaly with hop gait
- Lechuga S, Naydenov N, Feygin A, Jiménez A, Ivanov A. A vesicle trafficking protein Î±SNAP regulates Paneth cell differentiation inÂ vivo. Biochem Biophys Res Commun. 2017;486:951-957 pubmed publisher..In the present study, we used a mouse with a spontaneous hydrocephalus with hop gait (hyh) mutation of Î±SNAP to examine the roles of this trafficking protein in regulating intestinal epithelial ..
- Wang L, Brautigan D. ?-SNAP inhibits AMPK signaling to reduce mitochondrial biogenesis and dephosphorylates Thr172 in AMPK? in vitro. Nat Commun. 2013;4:1559 pubmed publisher..Here we show that AMPK associates with ?-SNAP, an adapter that enables disassembly of cis-SNARE complexes formed during membrane fusion...
- Páez P, Batiz L, Roales Buján R, Rodríguez Pérez L, Rodriguez S, Jiménez A, et al. Patterned neuropathologic events occurring in hyh congenital hydrocephalic mutant mice. J Neuropathol Exp Neurol. 2007;66:1082-92 pubmedb>Hyh mutant mice develop long-lasting hydrocephalus and represent a good model for investigating neuropathologic events associated with hydrocephalus...
- Hong W. SNAREs and traffic. Biochim Biophys Acta. 2005;1744:120-44 pubmed..The SNARE-mediated process is conserved evolutionally from yeast to human, as well as mechanistically and structurally ..
- Gotte M, von Mollard G. A new beat for the SNARE drum. Trends Cell Biol. 1998;8:215-8 pubmed..According to the original SNARE hypothesis, the formation of a complex of an NEM-sensitive fusion protein (NSF), soluble NSF attachment proteins (..
- Pérez Fígares J, Jimenez A, Perez Martin M, Fernández Llebrez P, Cifuentes M, Riera P, et al. Spontaneous congenital hydrocephalus in the mutant mouse hyh. Changes in the ventricular system and the subcommissural organ. J Neuropathol Exp Neurol. 1998;57:188-202 pubmed..This organ was investigated in the mutant mouse hyh developing a congenital hydrocephalus...
- Bronson R, Lane P. Hydrocephalus with hop gait (hyh): a new mutation on chromosome 7 in the mouse. Brain Res Dev Brain Res. 1990;54:131-6 pubmedHydrocephalus with hop gait (hyh) is a new lethal recessive mouse mutation that arose in the C57BL/10J strain at The Jackson Laboratory. It has been mapped to the proximal end of Chromosome 7 close to the Gpi-1 locus...
- Wagner C, Batiz L, Rodriguez S, Jimenez A, Paez P, Tome M, et al. Cellular mechanisms involved in the stenosis and obliteration of the cerebral aqueduct of hyh mutant mice developing congenital hydrocephalus. J Neuropathol Exp Neurol. 2003;62:1019-40 pubmedTwo phases may be recognized in the development of congenital hydrocephalus in the hyh mutant mouse. During embryonic life the detachment of the ventral ependyma is followed by a moderate hydrocephalus...
- Lin S, Bassik M, Suh H, Nishino M, Arroyo J, Hahn W, et al. PP2A regulates BCL-2 phosphorylation and proteasome-mediated degradation at the endoplasmic reticulum. J Biol Chem. 2006;281:23003-12 pubmed..These studies support the hypothesis that PP2A-mediated dephosphorylation of BCL-2 is required to protect BCL-2 from proteasome-dependent degradation, affecting resistance to ER stress. ..
- Ferland R, Batiz L, Neal J, Lian G, Bundock E, Lu J, et al. Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. Hum Mol Genet. 2009;18:497-516 pubmed publisher..Finally, the hydrocephalus with hop gait (hyh) mouse, which harbors a mutation in Napa [encoding N-ethylmaleimide-sensitive factor attachment protein alpha (..
- Jimenez A, Tome M, Paez P, Wagner C, Rodriguez S, Fernández Llebrez P, et al. A programmed ependymal denudation precedes congenital hydrocephalus in the hyh mutant mouse. J Neuropathol Exp Neurol. 2001;60:1105-19 pubmedHydrocephalic hyh mice are born with moderate hydrocephalus and a normal cerebral aqueduct. At about the fifth postnatal day the aqueduct becomes obliterated and severe hydrocephalus develops...
- Burgalossi A, Jung S, Meyer G, Jockusch W, Jahn O, Taschenberger H, et al. SNARE protein recycling by ?SNAP and ?SNAP supports synaptic vesicle priming. Neuron. 2010;68:473-87 pubmed publisherNeurotransmitter release proceeds by Ca(2+)-triggered, SNARE-complex-dependent synaptic vesicle fusion...
- Chae T, Allen K, Davisson M, Sweet H, Walsh C. Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7. Mamm Genome. 2002;13:239-44 pubmedMice that are homozygous for the autosomal recessive hydrocephaly with hop gait (hyh) mutation on Chromosome (Chr) 7 have congenital hydrocephalus characterized by an interhemispheric cyst arising from the third ventricle and agenesis of ..
- Batiz L, De Blas G, Michaut M, Ramírez A, Rodríguez F, Ratto M, et al. Sperm from hyh mice carrying a point mutation in alphaSNAP have a defect in acrosome reaction. PLoS ONE. 2009;4:e4963 pubmed publisherHydrocephalus with hop gait (hyh) is a recessive inheritable disease that arose spontaneously in a mouse strain...
- Puschel A, O CONNOR V, Betz H. The N-ethylmaleimide-sensitive fusion protein (NSF) is preferentially expressed in the nervous system. FEBS Lett. 1994;347:55-8 pubmed..An identical expression profile was observed for alpha/beta-SNAP. Our data are consistent with a central function of NSF and SNAPs in neurotransmission. ..
- Miao Y, Bhushan J, Dani A, Vig M. Na+ influx via Orai1 inhibits intracellular ATP-induced mTORC2 signaling to disrupt CD4 T cell gene expression and differentiation. elife. 2017;6: pubmed publisher..Here we show that Î±-SNAP hypomorph, hydrocephalus with hopping gait, Napahyh/hyh mice harbor significant defects in CD4 T cell gene expression and Foxp3 regulatory T cell (Treg) ..