A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.
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Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and TwinkyRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberSANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.Phenotypic rescue of a Drosophila model of mitochondrial ANT1 disease.The role of mitochondrial DNA mutations in mammalian agingMolecular, functional, and pathological aspects of the mitochondrial ADP/ATP carrier.Inherited mitochondrial diseases of DNA replicationMisfolding of mutant adenine nucleotide translocase in yeast supports a novel mechanism of Ant1-induced muscle diseases.Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.Friedreich's ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase.Adenine nucleotide translocase, mitochondrial stress, and degenerative cell death.Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases.Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases.Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions.The power of yeast to model diseases of the powerhouse of the cell.Yeast ADP/ATP carrier isoform 2: conformational dynamics and role of the RRRMMM signature sequence methionines.adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.MtDNA-maintenance defects: syndromes and genes.Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes.Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.
P2860
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P2860
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.
description
2005 nî lūn-bûn
@nan
2005年の論文
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2005年学术文章
@wuu
2005年学术文章
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2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
A novel ANT1 gene mutation wit ...... sive external ophthalmoplegia.
@en
A novel ANT1 gene mutation wit ...... sive external ophthalmoplegia.
@nl
type
label
A novel ANT1 gene mutation wit ...... sive external ophthalmoplegia.
@en
A novel ANT1 gene mutation wit ...... sive external ophthalmoplegia.
@nl
prefLabel
A novel ANT1 gene mutation wit ...... sive external ophthalmoplegia.
@en
A novel ANT1 gene mutation wit ...... sive external ophthalmoplegia.
@nl
P2093
P1476
A novel ANT1 gene mutation wit ...... sive external ophthalmoplegia.
@en
P2093
Gavin Hudson
Marcus Deschauer
Robert W Taylor
Stephan Zierz
Tobias Müller
P304
P356
10.1016/J.NMD.2004.12.004
P577
2005-01-28T00:00:00Z