MFN2 mutations cause compensatory mitochondrial DNA proliferation

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منابع مشابه

MFN2 mutations cause compensatory mitochondrial DNA proliferation

1 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK 2 Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK 3 IfADo – Leibniz Research Centre for Working Environment and Human Factors, Dortmund, Germany 4 Friedrich-Baur Institute, Ludwig Maximilian University, Munich, Germany ...

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LETTER TO THE EDITOR MFN2 mutations cause compensatory mitochondrial DNA proliferation

1 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK 2 Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK 3 IfADo – Leibniz Research Centre for Working Environment and Human Factors, Dortmund, Germany 4 Friedrich-Baur Institute, Ludwig Maximilian University, Munich, Germany ...

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Mitochondrial DNA Mutations, Pathogenicity and Inheritance

Mitochondria contain their own DNA (mtDNA), which codes for 13 proteins (all subunits of the respiratory chain complexes), 22 tRNAs and 2 rRNAs. Several mtDNA point mutations as well as deletions have been shown to be causative in well-defined mitochondrial disorders. A mixture of mutated and wild type mtDNA (heteroplasmy) is found in most of these disorders. Inheritance of mtDNA is maternal, a...

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Can mitochondrial DNA mutations cause sperm dysfunction?

Very low levels of somatic mitochondrial (mt)DNA deletions have been identified in the semen of infertile men. It has been suggested that these mutations cause infertility through an effect on sperm motility, but there has been no direct evidence to show that mutant mtDNA can affect sperm function. We have carried out semen analysis on a male harbouring the A3243G mtDNA mutation and show that h...

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MFN2, a new gene responsible for mitochondrial DNA depletion.

1 AP-HP, Hôpital Armand Trousseau, Service de Neuropédiatrie, Paris, France 2 UPMC Univ Paris 06, Paris, France 3 CHU d’Angers, Département de Biochimie et Génétique, Angers, France 4 UMR CNRS 6214—INSERM 771, Angers, France 5 AP-HP, Hôpital Bicêtre, Laboratoire de Biochimie, Paris, France 6 AP-HP, Hôpital Armand Trousseau, Service de Chirurgie Orthopédique et du Neurohandicap, Paris, France 7 ...

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ژورنال

عنوان ژورنال: Brain

سال: 2012

ISSN: 1460-2156,0006-8950

DOI: 10.1093/brain/aws049