Mechanisms of mitochondrial diseases (Q37909459)

25 August 2017

Mechanisms of mitochondrial diseases (English)

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25 August 2017

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Emil Ylikallio

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author name string

Anu Suomalainen

series ordinal

2

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PubMed ID

21806499

25 August 2017

language of work or name

English

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publication date

2 August 2011

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25 August 2017

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25 August 2017

44

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25 August 2017

1

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25 August 2017

41-59

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The epidemiology of mitochondrial disorders--past, present and future

25 August 2017

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Prevalence of mitochondrial DNA disease in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Disorders of mitochondrial function

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

The neurology of mitochondrial DNA disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondria: dynamic organelles in disease, aging, and development

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Sequence and organization of the human mitochondrial genome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Transmission of mitochondrial DNA diseases and ways to prevent them.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Strong purifying selection in transmission of mammalian mitochondrial DNA

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial DNA mutations and ageing

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Bovine complex I is a complex of 45 different subunits.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Structural Basis for the Mechanism of Respiratory Complex I

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598547

The architecture of respiratory complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Functional modules and structural basis of conformational coupling in mitochondrial complex I.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Structure of the hydrophilic domain of respiratory complex I from Thermus thermophilus

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

The harlequin mouse mutation downregulates apoptosis-inducing factor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

A role for mitochondrial enzymes in inherited neoplasia and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Respiratory-chain diseases related to complex III deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

The cytochrome bc1 complex: function in the context of structure

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Respiratory complex III is required to maintain complex I in mammalian mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Cytochrome c oxidase deficiency: patients and animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Assembly of cytochrome-c oxidase in the absence of assembly protein Surf1p leads to loss of the active site heme

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial diseases and genetic defects of ATP synthase.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Inherited mitochondrial diseases of DNA replication

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

The human mitochondrial replication fork in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Double-strand breaks of mouse muscle mtDNA promote large deletions similar to multiple mtDNA deletions in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mechanisms of formation and accumulation of mitochondrial DNA deletions in aging neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Interactions between deoxyribonucleotide and DNA synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Initiation and elongation factors in mammalian mitochondrial protein biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Reconstructing the evolution of the mitochondrial ribosomal proteome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Acute infantile liver failure due to mutations in the TRMU gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial DNA and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Human mitochondrial transfer RNAs: role of pathogenic mutation in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Disorders of mitochondrial protein synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Functions and dysfunctions of mitochondrial dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Coenzyme Q and mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondria, oxidants, and aging

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial myopathy induces a starvation-like response

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Fission and selective fusion govern mitochondrial segregation and elimination by autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Ketogenic diet slows down mitochondrial myopathy progression in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Pathogenic mutations of nuclear genes associated with mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598547

10.3109/07853890.2011.598547

21 January 2018

Identifiers

DOI

1 reference

25 August 2017

1 reference

PubMed ID

21806499