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

Brain Research

Volumn 900, Issue 1, 2001, Pages 9-25

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

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Charcot Marie Tooth disease; Conductance Voltage relations; Connexin 32; Loss of function; Peripheral neuropathy; Xenopus oocyte expression system

Indexed keywords

CONNEXIN 32; MUTANT PROTEIN;

ANIMAL CELL; ARTICLE; CONDUCTANCE; CONTROLLED STUDY; EXCITATORY JUNCTION POTENTIAL; GAP JUNCTION; HEREDITARY MOTOR SENSORY NEUROPATHY; NONHUMAN; OOCYTE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; XENOPUS;

AMINO ACID SUBSTITUTION; ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; FEMALE; GAP JUNCTIONS; HUMANS; MEMBRANE POTENTIALS; MUTATION, MISSENSE; OOCYTES; PATCH-CLAMP TECHNIQUES; PROTEIN CONFORMATION; RECOMBINANT FUSION PROTEINS; RNA, MESSENGER; X CHROMOSOME; XENOPUS LAEVIS;

EID: 0035805077     PISSN: 00068993     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-8993(00)03327-8     Document Type: Article

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