Varaico: Literature-Extracted Genetic Variants

Gene:NAPA
Variant:p.M105I
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NAPA

NM_003827.4:p.M105I

Associated Papers

A pathogenic mutation in α-SNAP impairs membrane lipid binding by concealing a critical hydrophobic loop.

Méndez-Ruette M et al.

Communications Biology, 2026

Abnormal Transcytosis Mechanisms in the Pathogenesis of Hydrocephalus: A Review.

Randeni A et al.

International Journal of Molecular Sciences, 2025

Alpha-SNAP (M105I) mutation promotes neuronal differentiation of neural stem/progenitor cells through overactivation of AMPK.

Bustamante-Barrientos FA et al.

Frontiers in Cell and Developmental Biology, 2023

Pleiotropic effects of alpha-SNAP M105I mutation on oocyte biology: ultrastructural and cellular changes that adversely affect female fertility in mice.

de Paola M et al.

Scientific Reports, 2019

α-SNAP is expressed in mouse ovarian granulosa cells and plays a key role in folliculogenesis and female fertility.

Arcos A et al.

Scientific Reports, 2017

Na+ influx via Orai1 inhibits intracellular ATP-induced mTORC2 signaling to disrupt CD4 T cell gene expression and differentiation.

Miao Y et al.

Elife, 2017

α-SNAP inhibits AMPK signaling to reduce mitochondrial biogenesis and dephosphorylates Thr172 in AMPKα in vitro.

Wang L et al.

Nature Communications, 2013

α-SNAP prevents docking of the acrosome during sperm exocytosis because it sequesters monomeric syntaxin.

Rodríguez F et al.

Plos One, 2011

SNARE protein recycling by αSNAP and βSNAP supports synaptic vesicle priming.

Burgalossi A et al.

Neuron, 2010

A simple PCR-based genotyping method for M105I mutation of alpha-SNAP enhances the study of early pathological changes in hyh phenotype.

Bátiz LF et al.

Molecular and Cellular Probes, 2009

Sperm from hyh mice carrying a point mutation in alphaSNAP have a defect in acrosome reaction.

Bátiz LF et al.

Plos One, 2009

Cellular functions of NSF: not just SNAPs and SNAREs.

Zhao C et al.

Febs Letters, 2007

Genetics of human hydrocephalus.

Zhang J et al.

Journal of Neurology, 2006

Heterogeneous expression of hydrocephalic phenotype in the hyh mice carrying a point mutation in alpha-SNAP.

Bátiz LF et al.

Neurobiology of Disease, 2006

The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice.

Hong HK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."