CFTR c.1522_1523delinsGC ;(p.F508A)

Variant ID: 7-117199647-TT-GC

NM_000492.3(CFTR):c.1522_1523delinsGC;(p.F508A)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Targeting PDZ domains as potential treatment for viral infections, neurodegeneration and cancer.

Biology Direct
Nardella, Caterina C; Visconti, Lorenzo L; Malagrinò, Francesca F; Pagano, Livia L; Bufano, Marianna M; Nalli, Marianna M; Coluccia, Antonio A; La Regina, Giuseppe G; Silvestri, Romano R; Gianni, Stefano S; Toto, Angelo A
Publication Date: 2021-10-12

Variant appearance in text: CFTR: F508A
PubMed Link: 34641953
Variant Present in the following documents:
  • Main text
  • 13062_2021_Article_303.pdf
View BVdb publication page



Targeting PDZ domains as potential treatment for viral infections, neurodegeneration and cancer.

Biology Direct
Nardella, Caterina C; Visconti, Lorenzo L; Malagrinò, Francesca F; Pagano, Livia L; Bufano, Marianna M; Nalli, Marianna M; Coluccia, Antonio A; La Regina, Giuseppe G; Silvestri, Romano R; Gianni, Stefano S; Toto, Angelo A
Publication Date: 2021-10-12

Variant appearance in text: CFTR: F508A
PubMed Link: 34641953
Variant Present in the following documents:
  • Main text
  • 13062_2021_Article_303.pdf
View BVdb publication page



Cystic fibrosis lung environment and Pseudomonas aeruginosa infection.

Bmc Pulmonary Medicine
Bhagirath, Anjali Y AY; Li, Yanqi Y; Somayajula, Deepti D; Dadashi, Maryam M; Badr, Sara S; Duan, Kangmin K
Publication Date: 2016-12-05

Variant appearance in text: CFTR: F508A
PubMed Link: 27919253
Variant Present in the following documents:
  • Main text
View BVdb publication page



Small molecule correctors of F508del-CFTR discovered by structure-based virtual screening.

Journal Of Computer-Aided Molecular Design
Kalid, Ori O; Mense, Martin M; Fischman, Sharon S; Shitrit, Alina A; Bihler, Hermann H; Ben-Zeev, Efrat E; Schutz, Nili N; Pedemonte, Nicoletta N; Thomas, Philip J PJ; Bridges, Robert J RJ; Wetmore, Diana R DR; Marantz, Yael Y; Senderowitz, Hanoch H
Publication Date: 2010-12

Variant appearance in text: CFTR: F508A
PubMed Link: 20976528
Variant Present in the following documents:
  • Main text
View BVdb publication page



The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis.

The Journal Of Biological Chemistry
Thibodeau, Patrick H PH; Richardson, John M JM; Wang, Wei W; Millen, Linda L; Watson, Jarod J; Mendoza, Juan L JL; Du, Kai K; Fischman, Sharon S; Senderowitz, Hanoch H; Lukacs, Gergely L GL; Kirk, Kevin K; Thomas, Philip J PJ
Publication Date: 2010-11-12

Variant appearance in text: CFTR: F508A
PubMed Link: 20667826
Variant Present in the following documents:
  • Main text
View BVdb publication page



NMR evidence for differential phosphorylation-dependent interactions in WT and DeltaF508 CFTR.

The Embo Journal
Kanelis, Voula V; Hudson, Rhea P RP; Thibodeau, Patrick H PH; Thomas, Philip J PJ; Forman-Kay, Julie D JD
Publication Date: 2010-01-06

Variant appearance in text: CFTR: F508A
PubMed Link: 19927121
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diminished self-chaperoning activity of the DeltaF508 mutant of CFTR results in protein misfolding.

Plos Computational Biology
Serohijos, Adrian W R AW; Hegedus, Tamás T; Riordan, John R JR; Dokholyan, Nikolay V NV
Publication Date: 2008-02-29

Variant appearance in text: CFTR: F508A
PubMed Link: 18463704
Variant Present in the following documents:
  • Main text
View BVdb publication page



In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer.

The Embo Journal
Mense, Martin M; Vergani, Paola P; White, Dennis M DM; Altberg, Gal G; Nairn, Angus C AC; Gadsby, David C DC
Publication Date: 2006-10-18

Variant appearance in text: CFTR: F508A
PubMed Link: 17036051
Variant Present in the following documents:
  • Main text
View BVdb publication page



The two ATP binding sites of cystic fibrosis transmembrane conductance regulator (CFTR) play distinct roles in gating kinetics and energetics.

The Journal Of General Physiology
Zhou, Zhen Z; Wang, Xiaohui X; Liu, Hao-Yang HY; Zou, Xiaoqin X; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2006-10

Variant appearance in text: CFTR: F508A
PubMed Link: 16966475
Variant Present in the following documents:
  • Main text
  • jgp1280413.pdf
View BVdb publication page



The ABC protein turned chloride channel whose failure causes cystic fibrosis.

Nature
Gadsby, David C DC; Vergani, Paola P; Csanády, László L
Publication Date: 2006-03-23

Variant appearance in text: CFTR: F508A
PubMed Link: 16554808
Variant Present in the following documents:
  • Main text
View BVdb publication page



Side chain and backbone contributions of Phe508 to CFTR folding.

Nature Structural & Molecular Biology
Thibodeau, Patrick H PH; Brautigam, Chad A CA; Machius, Mischa M; Thomas, Philip J PJ
Publication Date: 2005-01

Variant appearance in text: CFTR: F508A
PubMed Link: 15619636
Variant Present in the following documents:
  • Main text
View BVdb publication page