Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

STENDEL C., ROOS A., DECONINCK T., PEREIRA J., CASTAGNER F., NIEMANN A., ...Daha Fazla

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.81, sa.1, ss.158-164, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 81 Sayı: 1
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1086/518770
  • Dergi Adı: AMERICAN JOURNAL OF HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.158-164
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.