Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
Am J Hum Genet
; 81(1): 158-64, 2007 Jul.
Article
em En
| MEDLINE
| ID: mdl-17564972
ABSTRACT
GTPases of the Rho subfamily are widely involved in the myelination of the vertebrate nervous system. Rho GTPase activity is temporally and spatially regulated by a set of specific guanine nucleotide exchange factors (GEFs). Here, we report that disruption of frabin/FGD4, a GEF for the Rho GTPase cell-division cycle 42 (Cdc42), causes peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy. These data, together with the ability of frabin to induce Cdc42-mediated cell-shape changes in transfected Schwann cells, suggest that Rho GTPase signaling is essential for proper myelination of the peripheral nervous system.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Nervos Periféricos
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Doença de Charcot-Marie-Tooth
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Doenças Desmielinizantes
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Proteínas rho de Ligação ao GTP
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Proteínas dos Microfilamentos
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Bainha de Mielina
Limite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article