Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A (Articolo in rivista)

Type
Label
  • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A (Articolo in rivista) (literal)
Anno
  • 2004-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1038/ng1341 (literal)
Alternative label
  • Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröd (2004)
    Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
    in Nature genetics (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröd (literal)
Pagina inizio
  • 449 (literal)
Pagina fine
  • 451 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 36 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 5 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Department of Neuropathology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany. Center for Human Genetics, Duke University Medical Center, 595 LaSalle Street, Durham, North Carolina 27710, USA. Research Centre for Medical Genetics, Moskvorechie 1, 115478 Moscow, Russia. Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy. Bogazici University, Department of Molecular Biology and Genetics, 34342 Bebek, Istanbul, Turkey. Fatih University, Biology Department, 34500 Buyukcekmece, Istanbul, Turkey. Institute of Neurology, University \"Magna Graecia\", Catanzaro, Italy. Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium. Institute of Human Genetics, University Hospital, RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany. Istanbul University, Istanbul Medical School, Department of Neurology, 34342 Bebek, Istanbul, Turkey. Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-Ku, Tokyo 113-8655, Japan. (literal)
Titolo
  • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A (literal)
Abstract
  • We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A (CMT2A). Although a mutation in kinesin family member 1B-?(KIF1B) was associated with CMT2A in a single Japanese family, we found no mutations in KIF1Bin these seven families. Because these families include all published pedigrees with CMT2A and are ethnically diverse, we conclude that the primary gene mutated in CMT2A is MFN2. (literal)
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