PSEN1 c.874_876delinsGAC ;(p.M292D)

Variant ID: 14-73673099-ATG-GAC

NM_000021.3(PSEN1):c.874_876delinsGAC;(p.M292D)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Aβ43-producing PS1 FAD mutants cause altered substrate interactions and respond to γ-secretase modulation.

Embo Reports
Trambauer, Johannes J; Rodríguez Sarmiento, Rosa María RM; Fukumori, Akio A; Feederle, Regina R; Baumann, Karlheinz K; Steiner, Harald H
Publication Date: 2020-01-07

Variant appearance in text: PS1: M292D
PubMed Link: 31762188
Variant Present in the following documents:
  • Main text
  • EMBR-21-e47996-s010.pdf
  • EMBR-21-e47996.pdf
  • EMBR-21-e47996-s008.pdf
  • EMBR-21-e47996-s005.pdf
  • EMBR-21-e47996-s002.pdf
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Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.

Oncotarget
Grigorenko, Anastasia P AP; Moliaka, Youri K YK; Plotnikova, Olga V OV; Smirnov, Alexander A; Nikishina, Vera A VA; Goltsov, Andrey Y AY; Gusev, Fedor F; Andreeva, Tatiana V TV; Nelson, Omar O; Bezprozvanny, Ilya I; Rogaev, Evgeny I EI
Publication Date: 2017-10-10

Variant appearance in text: PSEN1: M292D
PubMed Link: 29137240
Variant Present in the following documents:
  • Main text
  • oncotarget-08-82006.pdf
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Biological function of Presenilin and its role in AD pathogenesis.

Translational Neurodegeneration
Zhang, Shuting S; Zhang, Mingming M; Cai, Fang F; Song, Weihong W
Publication Date: 2013-07-17

Variant appearance in text: PS1: M292D
PubMed Link: 23866842
Variant Present in the following documents:
  • Main text
  • 2047-9158-2-15.pdf
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Contribution of the γ-secretase subunits to the formation of catalytic pore of presenilin 1 protein.

The Journal Of Biological Chemistry
Takeo, Koji K; Watanabe, Naoto N; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2012-07-27

Variant appearance in text: PS1: M292D
PubMed Link: 22689582
Variant Present in the following documents:
  • Main text
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Activation and intrinsic gamma-secretase activity of presenilin 1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ahn, Kwangwook K; Shelton, Christopher C CC; Tian, Yuan Y; Zhang, Xulun X; Gilchrist, M Lane ML; Sisodia, Sangram S SS; Li, Yue-Ming YM
Publication Date: 2010-12-14

Variant appearance in text: PS1: M292D
PubMed Link: 21115843
Variant Present in the following documents:
  • Main text
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Three-amino acid spacing of presenilin endoproteolysis suggests a general stepwise cleavage of gamma-secretase-mediated intramembrane proteolysis.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Fukumori, Akio A; Fluhrer, Regina R; Steiner, Harald H; Haass, Christian C
Publication Date: 2010-06-09

Variant appearance in text: PS1: M292D
PubMed Link: 20534834
Variant Present in the following documents:
  • Main text
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Functional analysis of the transmembrane domains of presenilin 1: participation of transmembrane domains 2 and 6 in the formation of initial substrate-binding site of gamma-secretase.

The Journal Of Biological Chemistry
Watanabe, Naoto N; Image Image, Image Image II; Takagi, Shizuka S; Image Image, Image Image II; Tominaga, Aya A; Image Image, Image I; Tomita, Taisuke T; Image Image, Image Image II; Iwatsubo, Takeshi T; Image Image, Image I
Publication Date: 2010-06-25

Variant appearance in text: PS1: M292D
PubMed Link: 20418378
Variant Present in the following documents:
  • Main text
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Structural and Functional Determinants of gamma-Secretase, an Intramembrane Protease Implicated in Alzheimer's Disease.

Current Genomics
Fraering, Patrick C PC
Publication Date: 2007-12

Variant appearance in text: PS1: M292D
PubMed Link: 19415127
Variant Present in the following documents:
  • Main text
  • CG-8-531.pdf
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Chemical cross-linking provides a model of the gamma-secretase complex subunit architecture and evidence for close proximity of the C-terminal fragment of presenilin with APH-1.

The Journal Of Biological Chemistry
Steiner, Harald H; Winkler, Edith E; Haass, Christian C
Publication Date: 2008-12-12

Variant appearance in text: PS1: M292D
PubMed Link: 18801744
Variant Present in the following documents:
  • Main text
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The C-terminal PAL motif and transmembrane domain 9 of presenilin 1 are involved in the formation of the catalytic pore of the gamma-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Sato, Chihiro C; Takagi, Shizuka S; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2008-06-11

Variant appearance in text: PS1: M292D
PubMed Link: 18550769
Variant Present in the following documents:
  • Main text
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Presenilin-1 affects trafficking and processing of betaAPP and is targeted in a complex with nicastrin to the plasma membrane.

The Journal Of Cell Biology
Kaether, Christoph C; Lammich, Sven S; Edbauer, Dieter D; Ertl, Michaela M; Rietdorf, Jens J; Capell, Anja A; Steiner, Harald H; Haass, Christian C
Publication Date: 2002-08-05

Variant appearance in text: PS1: M292D
PubMed Link: 12147673
Variant Present in the following documents:
  • Main text
  • 200201123.pdf
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