APP c.65C>A ;(p.T22N)

Variant ID: 21-27484456-G-T

NM_000484.3(APP):c.65C>A;(p.T22N)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Retromer deficiency in Tauopathy models enhances the truncation and toxicity of Tau.

Nature Communications
Asadzadeh, Jamshid J; Ruchti, Evelyne E; Jiao, Wei W; Limoni, Greta G; MacLachlan, Catherine C; Small, Scott A SA; Knott, Graham G; Santa-Maria, Ismael I; McCabe, Brian D BD
Publication Date: 2022-08-27

Variant appearance in text: APP: T22N
PubMed Link: 36030267
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_32683.pdf
View BVdb publication page



NRBF2 is a RAB7 effector required for autophagosome maturation and mediates the association of APP-CTFs with active form of RAB7 for degradation.

Autophagy
Cai, Cui-Zan CZ; Yang, Chuanbin C; Zhuang, Xu-Xu XX; Yuan, Ning-Ning NN; Wu, Ming-Yue MY; Tan, Jie-Qiong JQ; Song, Ju-Xian JX; Cheung, King-Ho KH; Su, Huanxing H; Wang, Yi-Tao YT; Tang, Bei-Sha BS; Behrends, Christian C; Durairajan, Siva Sundara Kumar SSK; Yue, Zhenyu Z; Li, Min M; Lu, Jia-Hong JH
Publication Date: 2021-05

Variant appearance in text: APP: T22N
PubMed Link: 32543313
Variant Present in the following documents:
  • Main text
View BVdb publication page



SorCS1-mediated sorting in dendrites maintains neurexin axonal surface polarization required for synaptic function.

Plos Biology
Ribeiro, Luís F LF; Verpoort, Ben B; Nys, Julie J; Vennekens, Kristel M KM; Wierda, Keimpe D KD; de Wit, Joris J
Publication Date: 2019-10

Variant appearance in text: APP: T22N
PubMed Link: 31658245
Variant Present in the following documents:
  • Main text
  • pbio.3000466.pdf
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Inhibition of TBC1D5 activates Rab7a and can enhance the function of the retromer cargo-selective complex.

Journal Of Cell Science
Seaman, Matthew N J MNJ; Mukadam, Aamir S AS; Breusegem, Sophia Y SY
Publication Date: 2018-06-21

Variant appearance in text: APP: T22N
PubMed Link: 29777037
Variant Present in the following documents:
  • Main text
View BVdb publication page



Central role for PICALM in amyloid-β blood-brain barrier transcytosis and clearance.

Nature Neuroscience
Zhao, Zhen Z; Sagare, Abhay P AP; Ma, Qingyi Q; Halliday, Matthew R MR; Kong, Pan P; Kisler, Kassandra K; Winkler, Ethan A EA; Ramanathan, Anita A; Kanekiyo, Takahisa T; Bu, Guojun G; Owens, Nelly Chuqui NC; Rege, Sanket V SV; Si, Gabriel G; Ahuja, Ashim A; Zhu, Donghui D; Miller, Carol A CA; Schneider, Julie A JA; Maeda, Manami M; Maeda, Takahiro T; Sugawara, Tohru T; Ichida, Justin K JK; Zlokovic, Berislav V BV
Publication Date: 2015-07

Variant appearance in text: APP: T22N
PubMed Link: 26005850
Variant Present in the following documents:
  • Main text
  • nihms684788.pdf
View BVdb publication page



Differential regulation of amyloid-β endocytic trafficking and lysosomal degradation by apolipoprotein E isoforms.

The Journal Of Biological Chemistry
Li, Jie J; Kanekiyo, Takahisa T; Shinohara, Mitsuru M; Zhang, Yunwu Y; LaDu, Mary Jo MJ; Xu, Huaxi H; Bu, Guojun G
Publication Date: 2012-12-28

Variant appearance in text: APP: T22N
PubMed Link: 23132858
Variant Present in the following documents:
  • Main text
View BVdb publication page



Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization.

The Embo Journal
Chen, C D CD; Huff, M E ME; Matteson, J J; Page, L L; Phillips, R R; Kelly, J W JW; Balch, W E WE
Publication Date: 2001-11-15

Variant appearance in text: APP: T22N
PubMed Link: 11707399
Variant Present in the following documents:
  • Main text
View BVdb publication page