Two CFTR mutations within codon 970 differently impact on the chloride channel functionality-Reference-Cited by-同舟云学术

Two CFTR mutations within codon 970 differently impact on the chloride channel functionality

Published:2019-03-28 Issue:6 Volume:40 Page:742-748
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Amato Felice¹,Scudieri Paolo²,Musante Ilaria²,Tomati Valeria³,Caci Emanuela³,Comegna Marika¹,Maietta Sabrina¹,Manzoni Francesca¹,Di Lullo Antonella Miriam¹,Wachter Elke⁴,Vanderhelst Eef⁴,Terlizzi Vito⁵,Braggion Cesare⁵,Castaldo Giuseppe¹,Galietta Luis J. V.²⁶^ORCID

Affiliation:

1. Department of Molecular Medicine and Medical BiotechnologyUniversity of Naples Federico II, CEINGE – Biotecnologie AvanzateNaples Italy

2. Cell Biology and Disease Mechanisms ProgramTelethon Institute of Genetics and Medicine (TIGEM)Pozzuoli Italy

3. UOC Genetica MedicaIstituto Giannina GasliniGenova Italy

4. CF CentreUniversitair Ziekenhuis Brussel, Vrije Universiteit BrusselBrussels Belgium

5. Centro Regionale Toscano Fibrosi CisticaAzienda Ospedaliero‐Universitaria MeyerFirenze Italy

6. Department of Translational Medical Sciences (DISMET)University of Naples Federico IINaples Italy

Funder

Fondazione Telethon

Ministero della Salute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23741

Reference34 articles.

1. Rescuing Mutant CFTR: A Multi-task Approach to a Better Outcome in Treating Cystic Fibrosis

2. R560S: A class II CFTR mutation that is not rescued by current modulators;Awatade N. T.;Journal of Cystic Fibrosis,2018

3. Searching for a cure for cystic fibrosis. A 25-year quest in a nutshell

4. The implications of CFTR structural studies for cystic fibrosis drug development

5. Mutation-Specific Potency and Efficacy of Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Potentiators

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