期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 81, 期 1, 页码 158-164出版社
UNIV CHICAGO PRESS
DOI: 10.1086/518770
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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.
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