(Q37412986)

20 August 2017

1 reference

title

Pathogenic mutations of nuclear genes associated with mitochondrial disorders (English)

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20 August 2017

1 reference

Xiaoyu Zhu

1

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20 August 2017

Xuerui Peng

series ordinal

2

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20 August 2017

Min-Xin Guan

series ordinal

3

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20 August 2017

Qingfeng Yan

series ordinal

4

1 reference

20 August 2017

1 March 2009

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Acta Biochimica et Biophysica Sinica

20 August 2017

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20 August 2017

41

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20 August 2017

179-187

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20 August 2017

3

1 reference

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

20 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Human mitochondrial complex I in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

NDUFA2 complex I mutation leads to Leigh disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

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/10.1093%2FABBS%2FGMN021

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Mutational analysis of BRAF and K-ras in gastric cancers: absence of BRAF mutations in gastric cancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

C6ORF66 is an assembly factor of mitochondrial complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

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/10.1093%2FABBS%2FGMN021

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

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/10.1093%2FABBS%2FGMN021

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

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/10.1093%2FABBS%2FGMN021

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/10.1093%2FABBS%2FGMN021

Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Nuclear genes and mitochondrial translation: a new class of genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

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/10.1093%2FABBS%2FGMN021

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/10.1093%2FABBS%2FGMN021

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Molecular pathogenetic mechanism of maternally inherited deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

MSS1, a nuclear-encoded mitochondrial GTPase involved in the expression of COX1 subunit of cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

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/10.1093%2FABBS%2FGMN021

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FABBS%2FGMN021

21 January 2018

Identifiers

DOI

10.1093/ABBS/GMN021

1 reference

20 August 2017

1 reference