Varaico: Literature-Extracted Genetic Variants

Gene:NSF
Variant:p.E329Q
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NSF

NM_006178.4:p.E329Q

Associated Papers

NSF is required for diverse endocytic modes by promoting fusion and fission pore closure in secretory cells.

Wu XS et al.

Biorxiv : the Preprint Server for Biology, 2025

KLHL17 differentially controls the expression of AMPA- and KA-type glutamate receptors to regulate dendritic spine enlargement.

Hu HT et al.

Journal of Neurochemistry, 2024

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.

Hayashi T et al.

Human Molecular Genetics, 2023

Tau target identification reveals NSF-dependent effects on AMPA receptor trafficking and memory formation.

Prikas E et al.

The Embo Journal, 2022

PTPN9-mediated dephosphorylation of VTI1B promotes ATG16L1 precursor fusion and autophagosome formation.

Chou HY et al.

Autophagy, 2021

SNARE priming is essential for maturation of autophagosomes but not for their formation.

Abada A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

P120-Catenin Regulates Early Trafficking Stages of the N-Cadherin Precursor Complex.

Wehrendt DP et al.

Plos One, 2016

p115-SNARE interactions: a dynamic cycle of p115 binding monomeric SNARE motifs and releasing assembled bundles.

Wang T et al.

Traffic (copenhagen, Denmark), 2015

An essential and NSF independent role for α-SNAP in store-operated calcium entry.

Miao Y et al.

Elife, 2013

Requirements for the catalytic cycle of the N-ethylmaleimide-Sensitive Factor (NSF).

Zhao C et al.

Biochimica Et Biophysica Acta, 2012

Loss of SNAP29 impairs endocytic recycling and cell motility.

Rapaport D et al.

Plos One, 2010

Dissecting the N-ethylmaleimide-sensitive factor: required elements of the N and D1 domains.

Zhao C et al.

The Journal of Biological Chemistry, 2010

Muscle-specific receptor tyrosine kinase endocytosis in acetylcholine receptor clustering in response to agrin.

Zhu D et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

NSF- and SNARE-mediated membrane fusion is required for nuclear envelope formation and completion of nuclear pore complex assembly in Xenopus laevis egg extracts.

Baur T et al.

Journal of Cell Science, 2007

N-ethylmaleimide-sensitive factor regulates beta2 adrenoceptor trafficking and signaling in cardiomyocytes.

Wang Y et al.

Molecular Pharmacology, 2007

Cellular functions of NSF: not just SNAPs and SNAREs.

Zhao C et al.

Febs Letters, 2007

SNARE-mediated membrane traffic modulates RhoA-regulated focal adhesion formation.

Gonon EM et al.

Febs Letters, 2005

Structure and function of SNARE and SNARE-interacting proteins.

Brunger AT

Quarterly Reviews of Biophysics, 2005

Distinct roles for the AAA ATPases NSF and p97 in the secretory pathway.

Dalal S et al.

Molecular Biology of the Cell, 2004

Electron cryomicroscopy structure of N-ethyl maleimide sensitive factor at 11 A resolution.

Furst J et al.

The Embo Journal, 2003

Uncoupling the ATPase activity of the N-ethylmaleimide sensitive factor (NSF) from 20S complex disassembly.

Matveeva EA et al.

Biochemistry, 2002

An NSF function distinct from ATPase-dependent SNARE disassembly is essential for Golgi membrane fusion.

Müller JM et al.

Nature Cell Biology, 1999

The VPS4 gene is involved in protein transport out of a yeast pre-vacuolar endosome-like compartment.

Finken-Eigen M et al.

Current Genetics, 1997

A possible predocking attachment site for N-ethylmaleimide-sensitive fusion protein. Insights from in vitro endosome fusion.

Colombo MI et al.

The Journal of Biological Chemistry, 1996

N-ethylmaleimide-sensitive fusion protein: a trimeric ATPase whose hydrolysis of ATP is required for membrane fusion.

Whiteheart SW et al.

The Journal of Cell Biology, 1994

Multiple binding proteins suggest diverse functions for the N-ethylmaleimide sensitive factor.

Whiteheart SW et al.

Journal of Structural Biology, 0

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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."