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Titolo:
CHANGES IN PERMEABILITY CAUSED BY CONNEXIN-32 MUTATIONS UNDERLIE X-LINKED CHARCOT-MARIE-TOOTH DISEASE
Autore:
OH S; RI Y; BENNETT MVL; TREXLER EB; VERSELIS VK; BARGIELLO TA;
Indirizzi:
YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT NEUROSCI,1300 MORRIS PK AVE BRONX NY 10461 YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT NEUROSCI BRONX NY 10461
Titolo Testata:
Neuron
fascicolo: 4, volume: 19, anno: 1997,
pagine: 927 - 938
SICI:
0896-6273(1997)19:4<927:CIPCBC>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
GAP JUNCTION CHANNELS; PERIPHERAL NERVOUS-SYSTEM; HEREDITARY MOTOR; POINT MUTATIONS; SCHWANN-CELLS; CYCLIC-AMP; GENE; NEUROPATHY; MYELIN; EXPRESSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
54
Recensione:
Indirizzi per estratti:
Citazione:
S. Oh et al., "CHANGES IN PERMEABILITY CAUSED BY CONNEXIN-32 MUTATIONS UNDERLIE X-LINKED CHARCOT-MARIE-TOOTH DISEASE", Neuron, 19(4), 1997, pp. 927-938

Abstract

The relationship between the loss of connexin 32 function and clinical manifestations of X-linked Charcot-Marie-Tooth (CMTX) disease is unknown. Here, we report that eight of nine CMTX mutations investigated form channels with measurable electrical conductance. Single-channel studies of two mutations demonstrate reduced junctional permeability caused by a decrease in either pore size (S26L) or open channel probability (M34T) that favors residency in a low-conductance substate. Permeation of second messengers such as cAMP through reflexive gap junctions between adjacent cytoplasmic loops of myelinating Schwann cells is likely to be reduced or absent in these channels. We propose that CMTX mutations impair the transduction of signals arising from normal glial-neuronal interactions and thereby cause demyelination and axonal degeneration.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/07/20 alle ore 00:16:26