Molecular genetics of mitochondrial disorders (Q37785514)

23 August 2017

title

Molecular genetics of mitochondrial disorders (English)

1 reference

23 August 2017

1 reference

Lee-Jun C. Wong

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20818730

7 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20818730

7 July 2024

publication date

1 January 2010

1 reference

full work available at URL

23 August 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fddrr.104

1 reference

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ddrr.104

7 July 2024

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Developmental Disabilities Research Reviews

7 July 2024

published in

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23 August 2017

volume

16

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23 August 2017

issue

2

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23 August 2017

page(s)

154-162

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The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex

23 August 2017

cites work

1 reference

Mitochondrial DNA mutations in human degenerative diseases and aging

21 January 2018

1 reference

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

21 January 2018

1 reference

7 January 2021

Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach

1 reference

7 January 2021

Mitochondrial DNA mutations in normal and tumor tissues from breast cancer patients

1 reference

7 January 2021

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

1 reference

7 January 2021

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Systematic identification of human mitochondrial disease genes through integrative genomics

1 reference

7 January 2021

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

1 reference

7 January 2021

Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells

1 reference

7 January 2021

The many faces of mitochondrial diseases

1 reference

7 January 2021

Quantitative evaluation of the mitochondrial DNA depletion syndrome

1 reference

7 January 2021

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

1 reference

7 January 2021

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

1 reference

7 January 2021

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

1 reference

7 January 2021

Pathogenic mitochondrial DNA mutations are common in the general population

1 reference

7 January 2021

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

1 reference

7 January 2021

Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.

1 reference

7 January 2021

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

1 reference

7 January 2021

New mutations in TK2 gene associated with mitochondrial DNA depletion.

1 reference

7 January 2021

PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1

1 reference

7 January 2021

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

1 reference

7 January 2021

Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.

1 reference

7 January 2021

Mitochondrial disease: a practical approach for primary care physicians.

1 reference

7 January 2021

The in-depth evaluation of suspected mitochondrial disease

1 reference

7 January 2021

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

1 reference

7 January 2021

NDUFA2 complex I mutation leads to Leigh disease

1 reference

7 January 2021

Novel mitochondrial DNA deletion found in a renal cell carcinoma

1 reference

7 January 2021

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

1 reference

7 January 2021

TMEM70 protein — A novel ancillary factor of mammalian ATP synthase

1 reference

7 January 2021

Accumulation of mitochondrial DNA deletions in the malignant prostate of patients of different ages

1 reference

7 January 2021

The human ribosomal protein L6 gene in a critical region for Noonan syndrome

1 reference

7 January 2021

Mitochondrial medicine: entering the era of treatment

1 reference

7 January 2021

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

1 reference

7 January 2021

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

1 reference

7 January 2021

Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation.

1 reference

7 January 2021

Yield of mtDNA mutation analysis in 2,000 patients

1 reference

7 January 2021

De novo mutations in POLG presenting with acute liver failure or encephalopathy.

1 reference

7 January 2021

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

1 reference

7 January 2021

New strategies and emerging technologies for massively parallel sequencing: applications in medical research

1 reference

7 January 2021

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

1 reference

7 January 2021

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

1 reference

7 January 2021

Mitochondrial disorder with OPA1 mutation lacking optic atrophy.

1 reference

7 January 2021

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

1 reference

7 January 2021

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

1 reference

7 January 2021

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

1 reference

7 January 2021

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

1 reference

7 January 2021

POLG mutations in Alpers syndrome

1 reference

7 January 2021

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

7 January 2021

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

1 reference

7 January 2021

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

1 reference

7 January 2021

A mitochondrial protein compendium elucidates complex I disease biology

1 reference

7 January 2021

Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation

1 reference

7 January 2021

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

1 reference

7 January 2021

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

1 reference

7 January 2021

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

1 reference

7 January 2021

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

1 reference

7 January 2021

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

1 reference

7 January 2021

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

1 reference

7 January 2021

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

1 reference

7 January 2021

Molecular analysis for mitochondrial DNA disorders

1 reference

7 January 2021

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.

1 reference

7 January 2021

The genetics and pathology of oxidative phosphorylation

1 reference

7 January 2021

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

1 reference

7 January 2021

Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain

1 reference

7 January 2021

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

1 reference

7 January 2021

Clinical and molecular features of mitochondrial DNA depletion syndromes.

1 reference

7 January 2021

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

1 reference

7 January 2021

Disorders of nuclear-mitochondrial intergenomic signaling

1 reference

7 January 2021

Disorders of nuclear-mitochondrial intergenomic communication

1 reference

7 January 2021

Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk.

1 reference

7 January 2021

Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

1 reference

7 January 2021

Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

1 reference

7 January 2021

Next generation sequence analysis for mitochondrial disorders

1 reference

7 January 2021

Mitochondrial diseases in man and mouse

1 reference

7 January 2021

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

1 reference

7 January 2021

Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation

1 reference

7 January 2021

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

1 reference

7 January 2021

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

1 reference

7 January 2021

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

1 reference

7 January 2021

Current molecular diagnostic algorithm for mitochondrial disorders

1 reference

7 January 2021

Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion

1 reference

7 January 2021

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

1 reference

7 January 2021

Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer

series ordinal

76

1 reference

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

7 July 2024

series ordinal

80

1 reference

7 July 2024

Identifiers

DOI

10.1002/DDRR.104

1 reference

23 August 2017

1 reference