(Q38472989)

3 September 2017

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title

Emerging aspects of treatment in mitochondrial disorders (English)

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3 September 2017

Shamima Rahman

1

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3 September 2017

publication date

12 May 2015

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Journal of Inherited Metabolic Disease

3 September 2017

published in

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3 September 2017

volume

38

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3 September 2017

issue

4

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3 September 2017

page(s)

641-653

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Ketogenic diet slows down mitochondrial myopathy progression in mice

3 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Three-parent in vitro fertilization: gene replacement for the prevention of inherited mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Ethics of modifying the mitochondrial genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Functional recovery of human cells harbouring the mitochondrial DNA mutation MERRF A8344G via peptide-mediated mitochondrial delivery

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Genome editing. The new frontier of genome engineering with CRISPR-Cas9

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Alternative oxidase expression in the mouse enables bypassing cytochrome c oxidase blockade and limits mitochondrial ROS overproduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Engineering the alternative oxidase gene to better understand and counteract mitochondrial defects: state of the art and perspectives.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Initial experience in the treatment of inherited mitochondrial disease with EPI-743.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Treatable Leigh-like encephalopathy presenting in adolescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Peptides from aminoacyl-tRNA synthetases can cure the defects due to mutations in mt tRNA genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Screening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compound

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

SnapShot: Mitochondrial quality control

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Efficiency and safety of AAV-mediated gene delivery of the human ND4 complex I subunit in the mouse visual system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Allotopic expression of a mitochondrial alternative oxidase confers cyanide resistance to human cell respiration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Glutathione deficiency in patients with mitochondrial disease: implications for pathogenesis and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Mitochondrial transfer from bone-marrow-derived stromal cells to pulmonary alveoli protects against acute lung injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Induction of mitochondrial oxidative stress in astrocytes by nitric oxide precedes disruption of energy metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Development of pharmacological strategies for mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Review of clinical trials for mitochondrial disorders: 1997-2012.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

A pilot randomized, placebo controlled, double blind phase I trial of the novel SIRT1 activator SRT2104 in elderly volunteers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Salvaging hope: Is increasing NAD(+) a key to treating mitochondrial myopathy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Delivering healthy mitochondria for the therapy of mitochondrial diseases and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

The Crystal Structure of TAL Effector PthXo1 Bound to Its DNA Target

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Development of a single-chain, quasi-dimeric zinc-finger nuclease for the selective degradation of mutated human mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Carrier erythrocyte entrapped thymidine phosphorylase therapy for MNGIE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Cochrane Database of Systematic Reviews

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

A novel Drp1 inhibitor diminishes aberrant mitochondrial fission and neurotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Mitochondrial disease and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Diagnosis of mitochondrial DNA depletion syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Medicine. Mitochondrial replacement, evolution, and the clinic.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Additional copies of the mitochondrial Ef-Tu and aspartyl-tRNA synthetase genes can compensate for a mutation affecting the maturation of the mitochondrial tRNAAsp

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Adeno-associated virus-mediated gene delivery of the human ND4 complex I subunit in rabbit eyes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

A multicenter study on Leigh syndrome: disease course and predictors of survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Mitochondrial transfer between cells can rescue aerobic respiration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Mitochondrial gene replacement in primate offspring and embryonic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Towards germline gene therapy of inherited mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Exercise and training in mitochondrial myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Mitochondrial disorders: prevalence, myths and advances.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

SURF1 deficiency: a multi-centre natural history study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

RETRACTED: Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9855-3

Plasma thiol status is altered in children with mitochondrial diseases

21 January 2018

1 reference

12 December 2020

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

1 reference

12 December 2020

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3

1 reference

12 December 2020

Treatment for mitochondrial disorders

1 reference

12 December 2020

Reversible infantile mitochondrial diseases

1 reference

12 December 2020

Clinical manifestations and management of four children with Pearson syndrome

1 reference

12 December 2020

Gene therapy for mitochondrial disease by delivering restriction endonuclease SmaI into mitochondria

1 reference

12 December 2020

Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency

1 reference

12 December 2020

Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations

1 reference

12 December 2020

Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice

1 reference

12 December 2020

Mitochondrial targeting functional peptides as potential devices for the mitochondrial delivery of a DF-MITO-Porter

1 reference

12 December 2020

Miro1 regulates intercellular mitochondrial transport & enhances mesenchymal stem cell rescue efficacy

1 reference

12 December 2020

10.1007/S10545-015-9855-3

Identifiers

DOI

1 reference

Dimensions Publication ID

3 September 2017

1044742925

0 references

1 reference