NSF c.985G>C ;(p.E329Q)

Variant ID: 17-44770308-G-C

NM_006178.3(NSF):c.985G>C;(p.E329Q)

This variant was identified in 30 publications

View GRCh38 version.




Publications:


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

Human Molecular Genetics
Hayashi, Takahiro T; Yano, Naoko N; Kora, Kengo K; Yokoyama, Atsushi A; Maizuru, Kanako K; Kayaki, Taisei T; Nishikawa, Kinuko K; Osawa, Mitsujiro M; Niwa, Akira A; Takenouchi, Toshiki T; Hijikata, Atsushi A; Shirai, Tsuyoshi T; Suzuki, Hisato H; Kosaki, Kenjiro K; Saito, Megumu K MK; Takita, Junko J; Yoshida, Takeshi T
Publication Date: 2023-01-16

Variant appearance in text: NSF: E329Q
PubMed Link: 36645181
Variant Present in the following documents:
  • Main text
  • ddad008.pdf
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The critical role of the endolysosomal system in cerebral ischemia.

Neural Regeneration Research
Zhang, Hui-Yi HY; Tian, Ye Y; Shi, Han-Yan HY; Cai, Ya Y; Xu, Ying Y
Publication Date: 2023-05

Variant appearance in text: NSF: E329Q
PubMed Link: 36254978
Variant Present in the following documents:
  • Main text
  • NRR-18-983.pdf
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Identification of two pathways mediating protein targeting from ER to lipid droplets.

Nature Cell Biology
Song, Jiunn J; Mizrak, Arda A; Lee, Chia-Wei CW; Cicconet, Marcelo M; Lai, Zon Weng ZW; Tang, Wei-Chun WC; Lu, Chieh-Han CH; Mohr, Stephanie E SE; Farese, Robert V RV; Walther, Tobias C TC
Publication Date: 2022-09

Variant appearance in text: NSF: E329Q
PubMed Link: 36050470
Variant Present in the following documents:
  • Main text
  • 41556_2022_Article_974.pdf
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Interruption of Endolysosomal Trafficking After Focal Brain Ischemia.

Frontiers In Molecular Neuroscience
Hu, Kurt K; Gaire, Bhakta Prasad BP; Subedi, Lalita L; Arya, Awadhesh A; Teramoto, Hironori H; Liu, Chunli C; Hu, Bingren B
Publication Date: 2021

Variant appearance in text: NSF: E329Q
PubMed Link: 34650402
Variant Present in the following documents:
  • Main text
  • fnmol-14-719100.pdf
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Extreme parsimony in ATP consumption by 20S complexes in the global disassembly of single SNARE complexes.

Nature Communications
Kim, Changwon C; Shon, Min Ju MJ; Kim, Sung Hyun SH; Eun, Gee Sung GS; Ryu, Je-Kyung JK; Hyeon, Changbong C; Jahn, Reinhard R; Yoon, Tae-Young TY
Publication Date: 2021-05-28

Variant appearance in text: NSF: E329Q
PubMed Link: 34050166
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_23530.pdf
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AtNSF regulates leaf serration by modulating intracellular trafficking of PIN1 in Arabidopsis thaliana.

Journal Of Integrative Plant Biology
Tang, Li Ping LP; Yang, Yi Y; Wang, Hui H; Li, Lixin L; Liu, Le L; Liu, Yu Y; Yuan, Jinfeng J; Zhao, Xiang Yu XY; Palme, Klaus K; Su, Ying Hua YH; Li, Xugang X
Publication Date: 2020-12-02

Variant appearance in text: NSF: E329Q
PubMed Link: 33289329
Variant Present in the following documents:
  • Main text
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PTPN9-mediated dephosphorylation of VTI1B promotes ATG16L1 precursor fusion and autophagosome formation.

Autophagy
Chou, He-Yen HY; Lee, Yi-Tang YT; Lin, Yuchieh Jay YJ; Wen, Jung-Kun JK; Peng, Wen-Hsin WH; Hsieh, Pei-Lien PL; Lin, Shu-Yu SY; Hung, Chin-Chun CC; Chen, Guang-Chao GC
Publication Date: 2021-10

Variant appearance in text: NSF: E329Q
PubMed Link: 33112705
Variant Present in the following documents:
  • Main text
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SNARE priming is essential for maturation of autophagosomes but not for their formation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Abada, Adi A; Levin-Zaidman, Smadar S; Porat, Ziv Z; Dadosh, Tali T; Elazar, Zvulun Z
Publication Date: 2017-11-28

Variant appearance in text: NSF: E329Q
PubMed Link: 29138318
Variant Present in the following documents:
  • Main text
  • pnas.201705572.pdf
  • pnas.201705572SI.pdf
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Roles of Cellular NSF Protein in Entry and Nuclear Egress of Budded Virions of Autographa californica Multiple Nucleopolyhedrovirus.

Journal Of Virology
Guo, Ya Y; Yue, Qi Q; Gao, Jinli J; Wang, Zhe Z; Chen, Yun-Ru YR; Blissard, Gary W GW; Liu, Tong-Xian TX; Li, Zhaofei Z
Publication Date: 2017-10-15

Variant appearance in text: NSF: E329Q
PubMed Link: 28747507
Variant Present in the following documents:
  • Main text
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P120-Catenin Regulates Early Trafficking Stages of the N-Cadherin Precursor Complex.

Plos One
Wehrendt, Diana P DP; Carmona, Fernando F; González Wusener, Ana E AE; González, Ángela Á; Martínez, Juan M Lázaro JM; Arregui, Carlos O CO
Publication Date: 2016

Variant appearance in text: NSF: E329Q
PubMed Link: 27254316
Variant Present in the following documents:
  • Main text
  • pone.0156758.pdf
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An essential and NSF independent role for α-SNAP in store-operated calcium entry.

Elife
Miao, Yong Y; Miner, Cathrine C; Zhang, Lei L; Hanson, Phyllis I PI; Dani, Adish A; Vig, Monika M
Publication Date: 2013-07-16

Variant appearance in text: NSF: E329Q
PubMed Link: 23878724
Variant Present in the following documents:
  • Main text
  • elife00802.pdf
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SNAREs in HIV-1 assembly.

Communicative & Integrative Biology
Garg, Himanshu H; Joshi, Anjali A
Publication Date: 2012-03-01

Variant appearance in text: NSF: E329Q
PubMed Link: 22808325
Variant Present in the following documents:
  • Main text
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Loss of soluble N-ethylmaleimide-sensitive factor attachment protein α (αSNAP) induces epithelial cell apoptosis via down-regulation of Bcl-2 expression and disruption of the Golgi.

The Journal Of Biological Chemistry
Naydenov, Nayden G NG; Harris, Gianni G; Brown, Bryan B; Schaefer, Katherine L KL; Das, Swadesh K SK; Fisher, Paul B PB; Ivanov, Andrei I AI
Publication Date: 2012-02-17

Variant appearance in text: NSF: E329Q
PubMed Link: 22194596
Variant Present in the following documents:
  • Main text
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Autophagosome precursor maturation requires homotypic fusion.

Cell
Moreau, Kevin K; Ravikumar, Brinda B; Renna, Maurizio M; Puri, Claudia C; Rubinsztein, David C DC
Publication Date: 2011-07-22

Variant appearance in text: NSF: E329Q
PubMed Link: 21784250
Variant Present in the following documents:
  • Main text
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Requirements for the catalytic cycle of the N-ethylmaleimide-Sensitive Factor (NSF).

Biochimica Et Biophysica Acta
Zhao, Chunxia C; Smith, Everett C EC; Whiteheart, Sidney W SW
Publication Date: 2012-01

Variant appearance in text: NSF: E329Q
PubMed Link: 21689688
Variant Present in the following documents:
  • Main text
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Evidence of a role for soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) machinery in HIV-1 assembly and release.

The Journal Of Biological Chemistry
Joshi, Anjali A; Garg, Himanshu H; Ablan, Sherimay D SD; Freed, Eric O EO
Publication Date: 2011-08-26

Variant appearance in text: NSF: E329Q
PubMed Link: 21680744
Variant Present in the following documents:
  • Main text
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Unconventional secretion of tissue transglutaminase involves phospholipid-dependent delivery into recycling endosomes.

Plos One
Zemskov, Evgeny A EA; Mikhailenko, Irina I; Hsia, Ru-Ching RC; Zaritskaya, Liubov L; Belkin, Alexey M AM
Publication Date: 2011-04-27

Variant appearance in text: NSF: E329Q
PubMed Link: 21556374
Variant Present in the following documents:
  • Main text
  • pone.0019414.pdf
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Loss of SNAP29 impairs endocytic recycling and cell motility.

Plos One
Rapaport, Debora D; Lugassy, Yevgenia Y; Sprecher, Eli E; Horowitz, Mia M
Publication Date: 2010-03-18

Variant appearance in text: NSF: E329Q
PubMed Link: 20305790
Variant Present in the following documents:
  • Main text
  • pone.0009759.pdf
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Dissecting the N-ethylmaleimide-sensitive factor: required elements of the N and D1 domains.

The Journal Of Biological Chemistry
Zhao, Chunxia C; Matveeva, Elena A EA; Ren, Qiansheng Q; Whiteheart, Sidney W SW
Publication Date: 2010-01-01

Variant appearance in text: NSF: E329Q
PubMed Link: 19887446
Variant Present in the following documents:
  • Main text
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Muscle-specific receptor tyrosine kinase endocytosis in acetylcholine receptor clustering in response to agrin.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Zhu, Dan D; Yang, Zhihua Z; Luo, Zhenge Z; Luo, Shiwen S; Xiong, Wen C WC; Mei, Lin L
Publication Date: 2008-02-13

Variant appearance in text: NSF: E329Q
PubMed Link: 18272689
Variant Present in the following documents:
  • Main text
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Quantitative analysis of membrane remodeling at the phagocytic cup.

Molecular Biology Of The Cell
Lee, Warren L WL; Mason, David D; Schreiber, Alan D AD; Grinstein, Sergio S
Publication Date: 2007-08

Variant appearance in text: NSF: E329Q
PubMed Link: 17507658
Variant Present in the following documents:
  • Main text
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Cellular functions of NSF: not just SNAPs and SNAREs.

Febs Letters
Zhao, Chunxia C; Slevin, John T JT; Whiteheart, Sidney W SW
Publication Date: 2007-05-22

Variant appearance in text: NSF: E329Q
PubMed Link: 17397838
Variant Present in the following documents:
  • Main text
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On and off membrane dynamics of the endoplasmic reticulum-golgi tethering factor p115 in vivo.

Molecular Biology Of The Cell
Brandon, Elizabeth E; Szul, Tomasz T; Alvarez, Cecilia C; Grabski, Robert R; Benjamin, Ronald R; Kawai, Ryoichi R; Sztul, Elizabeth E
Publication Date: 2006-07

Variant appearance in text: NSF: E329Q
PubMed Link: 16624868
Variant Present in the following documents:
  • Main text
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Insulin and hypertonicity recruit GLUT4 to the plasma membrane of muscle cells by using N-ethylmaleimide-sensitive factor-dependent SNARE mechanisms but different v-SNAREs: role of TI-VAMP.

Molecular Biology Of The Cell
Randhawa, Varinder K VK; Thong, Farah S L FS; Lim, Dawn Y DY; Li, Dailin D; Garg, Rami R RR; Rudge, Rachel R; Galli, Thierry T; Rudich, Assaf A; Klip, Amira A
Publication Date: 2004-12

Variant appearance in text: NSF: E329Q
PubMed Link: 15469990
Variant Present in the following documents:
  • Main text
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Distinct roles for the AAA ATPases NSF and p97 in the secretory pathway.

Molecular Biology Of The Cell
Dalal, Seema S; Rosser, Meredith F N MF; Cyr, Douglas M DM; Hanson, Phyllis I PI
Publication Date: 2004-02

Variant appearance in text: NSF: E329Q
PubMed Link: 14617820
Variant Present in the following documents:
  • Main text
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Electron cryomicroscopy structure of N-ethyl maleimide sensitive factor at 11 A resolution.

The Embo Journal
Furst, Johannes J; Sutton, R Bryan RB; Chen, James J; Brunger, Axel T AT; Grigorieff, Nikolaus N
Publication Date: 2003-09-01

Variant appearance in text: NSF: E329Q
PubMed Link: 12941689
Variant Present in the following documents:
  • Main text
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Sequential SNARE disassembly and GATE-16-GOS-28 complex assembly mediated by distinct NSF activities drives Golgi membrane fusion.

The Journal Of Cell Biology
Muller, Joyce M M JM; Shorter, James J; Newman, Richard R; Deinhardt, Katrin K; Sagiv, Yuval Y; Elazar, Zvulun Z; Warren, Graham G; Shima, David T DT
Publication Date: 2002-06-24

Variant appearance in text: NSF: E329Q
PubMed Link: 12070132
Variant Present in the following documents:
  • Main text
  • 0202082.pdf
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A screen for dominant negative mutants of SEC18 reveals a role for the AAA protein consensus sequence in ATP hydrolysis.

Molecular Biology Of The Cell
Steel, G J GJ; Harley, C C; Boyd, A A; Morgan, A A
Publication Date: 2000-04

Variant appearance in text: NSF: E329Q
PubMed Link: 10749934
Variant Present in the following documents:
  • Main text
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The mouse SKD1, a homologue of yeast Vps4p, is required for normal endosomal trafficking and morphology in mammalian cells.

Molecular Biology Of The Cell
Yoshimori, T T; Yamagata, F F; Yamamoto, A A; Mizushima, N N; Kabeya, Y Y; Nara, A A; Miwako, I I; Ohashi, M M; Ohsumi, M M; Ohsumi, Y Y
Publication Date: 2000-02

Variant appearance in text: NSF: E329Q
PubMed Link: 10679028
Variant Present in the following documents:
  • Main text
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Sequential actions of Rab5 and Rab7 regulate endocytosis in the Xenopus oocyte.

The Journal Of Cell Biology
Mukhopadhyay, A A; Barbieri, A M AM; Funato, K K; Roberts, R R; Stahl, P D PD
Publication Date: 1997-03-24

Variant appearance in text: NSF: E329Q
PubMed Link: 9087439
Variant Present in the following documents:
  • Main text
  • 23056.pdf
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