机构:Unit of Molecular Neurogenetics - Pierfranco, Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, C. Besta Neurological Institute Foundation
Alberio, Simona
Mineri, Rossana
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机构:Unit of Molecular Neurogenetics - Pierfranco, Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, C. Besta Neurological Institute Foundation
Mineri, Rossana
Tiranti, Valeria
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机构:Unit of Molecular Neurogenetics - Pierfranco, Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, C. Besta Neurological Institute Foundation
Tiranti, Valeria
Zeviani, Massimo
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机构:Unit of Molecular Neurogenetics - Pierfranco, Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, C. Besta Neurological Institute Foundation
Zeviani, Massimo
机构:
[1] Unit of Molecular Neurogenetics - Pierfranco, Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, C. Besta Neurological Institute Foundation
Maintenance of mitochondrial DNA (mtDNA) requires the concerted activity of several nuclear-encoded factors that participate in its replication, being part of the mitochondrial replisome or ensuring the balanced supply of dNTPs to mitochondria. In the past decade, a growing number of syndromes associated with dysfunction due to tissue-specific depletion of mtDNA (MDS) have been reported. This article reviews the current knowledge of the genes responsible for these disorders, the impact of different mutations in the epidemiology of MDS and their role in the pathogenic mechanisms underlying the different clinical presentations. (c) 2006 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
机构:
KAROLINSKA INST,DEPT MED BIOCHEM & BIOPHYS,MED NOBEL INST,S-17177 STOCKHOLM,SWEDENKAROLINSKA INST,DEPT MED BIOCHEM & BIOPHYS,MED NOBEL INST,S-17177 STOCKHOLM,SWEDEN
机构:
KAROLINSKA INST,DEPT MED BIOCHEM & BIOPHYS,MED NOBEL INST,S-17177 STOCKHOLM,SWEDENKAROLINSKA INST,DEPT MED BIOCHEM & BIOPHYS,MED NOBEL INST,S-17177 STOCKHOLM,SWEDEN