(Q34386744)

1 August 2017

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title

Diseases caused by nuclear genes affecting mtDNA stability (English)

1 reference

1 August 2017

Suomalainen A

1

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PubMed ID

11579425

1 August 2017

Kaukonen J

series ordinal

2

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1 August 2017

1 January 2001

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American Journal of Medical Genetics Part A

1 August 2017

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1 August 2017

106

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1 August 2017

1

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1 August 2017

53-61

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Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy

1 August 2017

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A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome

21 January 2018

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Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions

21 January 2018

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Animal and plant mitochondria contain specific thioredoxins.

21 January 2018

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Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.

21 January 2018

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Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis

21 January 2018

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Clinical heterogeneity associated with mitochondrial DNA depletion in muscle.

21 January 2018

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Cellular and molecular studies in muscle and cultures from patients with multiple mitochondrial DNA deletions.

21 January 2018

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Maintenance and integrity of the mitochondrial genome: a plethora of nuclear genes in the budding yeast

21 January 2018

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Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

21 January 2018

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Detection of a specific mitochondrial DNA deletion in tissues of older humans

21 January 2018

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Cyclophilin-D binds strongly to complexes of the voltage-dependent anion channel and the adenine nucleotide translocase to form the permeability transition pore

21 January 2018

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Mitochondrial DNA polymerase gamma is expressed and translated in the absence of mitochondrial DNA maintenance and replication

21 January 2018

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Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis.

21 January 2018

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Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement

21 January 2018

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Oxidative stress, thiol reagents, and membrane potential modulate the mitochondrial permeability transition by affecting nucleotide binding to the adenine nucleotide translocase

21 January 2018

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DNA helicase from mammalian mitochondria

21 January 2018

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

21 January 2018

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Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

21 January 2018

1 reference

A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia

21 January 2018

1 reference

Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

1 reference

Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases

21 January 2018

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mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy.

21 January 2018

1 reference

The human DNA ligase III gene encodes nuclear and mitochondrial proteins

21 January 2018

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Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion

21 January 2018

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Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice

21 January 2018

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Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia.

21 January 2018

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Mitochondrial DNA depletion: prevalence in a pediatric population referred for neurologic evaluation.

21 January 2018

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Fatal infantile liver failure associated with mitochondrial DNA depletion

21 January 2018

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Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism.

21 January 2018

1 reference

The human nm23-H4 gene product is a mitochondrial nucleoside diphosphate kinase

21 January 2018

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Mechanisms of human mitochondrial DNA maintenance: the determining role of primary sequence and length over function

21 January 2018

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

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Mitochondrial DNA deletions in inherited recurrent myoglobinuria

21 January 2018

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Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

21 January 2018

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Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

21 January 2018

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Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes.

21 January 2018

1 reference

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

21 January 2018

1 reference

An autosomal locus predisposing to deletions of mitochondrial DNA

21 January 2018

1 reference

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.

21 January 2018

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Clinical manifestations of mitochondrial DNA depletion.

21 January 2018

1 reference

Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression.

21 January 2018

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Significant existence of deleted mitochondrial DNA in cirrhotic liver surrounding hepatic tumor

21 January 2018

1 reference

Ribonucleotide reductase: evidence for specific association with HeLa cell mitochondria.

21 January 2018

1 reference

Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother

21 January 2018

1 reference

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1379

1 reference

1 August 2017

1 reference

PubMed ID

11579425