Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease-Reference-Cited by-同舟云学术

Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease

Published:2001-05 Issue:1 Volume:900 Page:9-25
ISSN:0006-8993
Container-title:Brain Research
language:en
Short-container-title:Brain Research

Author:

Abrams Charles K.,Freidin Mona M.,Verselis Vytas K.,Bennett Michael V.L.,Bargiello Thaddeus A.

Publisher

Elsevier BV

Subject

Developmental Biology,Clinical Neurology,Molecular Biology,General Neuroscience

Reference53 articles.

1. Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease;Abel;J. Neuropathol. Exp. Neurol.,1999

2. Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene;Ainsworth;Hum. Genet.,1998

3. Species-specific voltage-gating properties of connexin-45 junctions expressed in Xenopus oocytes;Barrio;Biophys. J.,1997

4. Connexin mutations in X-linked Charcot-Marie-Tooth disease;Bergoffen;Science,1993

5. Isoform composition of connexin channels determines selectivity among second messengers and uncharged molecules;Bevans;J. Biol. Chem.,1998

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