Author: Detmer Scott A. Velde Christine Vande Cleveland Don W. Chan David C.
Publisher: Oxford University Press
ISSN: 1460-2083
Source: Human Molecular Genetics, Vol.17, Iss.3, 2008-02, pp. : 367-375
Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.
Abstract
CharcotMarieTooth (CMT) disease type 2A is a progressive, neurodegenerative disorder affecting long peripheral motor and sensory nerves. The most common clinical sign is weakness in the lower legs and feet, associated with muscle atrophy and gait defects. The axonopathy in CMT2A is caused by mutations in Mitofusin 2 (Mfn2), a mitochondrial GTPase necessary for the fusion of mitochondria. Most Mfn2 disease alleles dominantly aggregate mitochondria upon expression in cultured fibroblasts and neurons. To determine whether this property is related to neuronal pathogenesis, we used the HB9 promoter to drive expression of a pathogenic allele, Mfn2
Related content
By Lee Samuel M. Sha Di Mohammed Anum A. Asress Seneshaw Glass Jonathan D. Chin Lih-Shen Li Lian
Human Molecular Genetics, Vol. 22, Iss. 9, 2013-05 ,pp. :
By Shen Hailian Barry Devin M. Dale Jeffrey M. Garcia Virginia B. Calcutt Nigel A. Garcia Michael L.
Human Molecular Genetics, Vol. 20, Iss. 13, 2011-07 ,pp. :