(Q37915809)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21835663%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

review article

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title

The use of individual patient's fibroblasts in the search for personalized treatment of nuclear encoded OXPHOS diseases (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21835663%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21835663%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

author name string

Ann Saada

series ordinal

1

1 reference

25 August 2017

22 July 2011

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21835663%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

10 February 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21835663%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

volume

104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21835663%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

issue

1-2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21835663%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

page(s)

39-47

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21835663%20AND%20SRC:MED&resulttype=core&format=json

The mitochondrial electron transport and oxidative phosphorylation system

10 February 2020

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7 January 2021

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7 January 2021

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7 January 2021

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Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells

7 January 2021

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Treatment of mitochondrial electron transport chain disorders: a review of clinical trials over the past decade

7 January 2021

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7 January 2021

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Why are there no proven therapies for genetic mitochondrial diseases?

7 January 2021

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Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases

7 January 2021

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7 January 2021

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7 January 2021

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In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

7 January 2021

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Transmission of mitochondrial DNA diseases and ways to prevent them.

7 January 2021

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Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects

7 January 2021

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Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts

7 January 2021

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Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I

7 January 2021

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Mitochondrial complex I: structure, function and pathology

7 January 2021

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Assembly factors of human mitochondrial complex I and their defects in disease

7 January 2021

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

7 January 2021

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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

7 January 2021

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FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

7 January 2021

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Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level.

7 January 2021

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Riboflavin-responsive complex I deficiency

7 January 2021

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Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency

7 January 2021

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Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency

7 January 2021

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The post-translational modifications of the nuclear encoded subunits of complex I from bovine heart mitochondria.

7 January 2021

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cAMP-dependent protein kinase regulates post-translational processing and expression of complex I subunits in mammalian cells.

7 January 2021

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The β-adrenoceptor agonist isoproterenol promotes the activity of respiratory chain complex I and lowers cellular reactive oxygen species in fibroblasts and heart myoblasts

7 January 2021

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The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency

7 January 2021

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7 January 2021

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7 January 2021

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Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

7 January 2021

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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

7 January 2021

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TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

7 January 2021

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Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

7 January 2021

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Coenzyme Q10 in neuromuscular and neurodegenerative disorders

7 January 2021

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Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

7 January 2021

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Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects

7 January 2021

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Mitochondrial production of reactive oxygen species: role of complex I and quinone analogues

7 January 2021

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Fishing in the (deoxyribonucleotide) pool

7 January 2021

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The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion.

7 January 2021

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Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency

7 January 2021

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Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

7 January 2021

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Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.016

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

7 January 2021

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Antibiotic effects on mitochondrial translation and in patients with mitochondrial translational defects

7 January 2021

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

7 January 2021

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Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment

7 January 2021

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Ascorbate reduces superoxide production and improves mitochondrial respiratory chain function in human fibroblasts with electron transport chain deficiencies

7 January 2021

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Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts

7 January 2021

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Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts

7 January 2021

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A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

7 January 2021

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.016

Riboflavin-responsive defects of beta-oxidation

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.016

PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.016

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.

7 January 2021

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Metalloprotease-mediated OPA1 processing is modulated by the mitochondrial membrane potential

7 January 2021

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Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease

7 January 2021

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Lipoic acid and N-acetyl cysteine decrease mitochondrial-related oxidative stress in Alzheimer disease patient fibroblasts.

7 January 2021

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Novel therapies targeting inner mitochondrial membrane--from discovery to clinical development

7 January 2021

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Dietary inorganic nitrate improves mitochondrial efficiency in humans.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.016

MELAS and L-arginine therapy: pathophysiology of stroke-like episodes.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.016

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.016

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.07.016

10.1016/J.YMGME.2011.07.016

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21835663%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference