Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.

about

Therapies for mitochondrial diseases and current clinical trials.The genotypic and phenotypic spectrum of MTO1 deficiency.Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

P2860

Q45872396-B915F4B8-089A-4F54-A6C1-DD6790461C85 Q47553920-E7771DD5-9278-43A3-B972-4153B87CD0BA Q51764886-ABE3AC1C-1268-4515-9C4B-7695B501EA22

P2860

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.

Item

http://www.wikidata.org/entity/Q50223884

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Cysteine Supplementation May b ...... rial Translation Deficiencies.

@en

Cysteine Supplementation May b ...... rial Translation Deficiencies.

@nl

type

Item

label

Cysteine Supplementation May b ...... rial Translation Deficiencies.

@en

Cysteine Supplementation May b ...... rial Translation Deficiencies.

@nl

prefLabel

Cysteine Supplementation May b ...... rial Translation Deficiencies.

@en

Cysteine Supplementation May b ...... rial Translation Deficiencies.

@nl

P1476

Cysteine Supplementation May b ...... rial Translation Deficiencies.

@en

P2093

Aurora Gomez-Duran

http://www.w3.org/2001/XMLSchema#string

Juliane S Mϋller

http://www.w3.org/2001/XMLSchema#string

Marina Bartsakoulia

http://www.w3.org/2001/XMLSchema#string

P2860

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

Distribution and frequencies of post-transcriptional modifications in tRNAs.

Modified uridines with C5-methylene substituents at the first position of the tRNA anticodon stabilize U.G wobble pairing during decoding

Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases.

The promise of N-acetylcysteine in neuropsychiatry

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.

MODOMICS: a database of RNA modification pathways. 2008 update.

P304

363-379

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.3233/JND-160178

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Rita Horvath

Patrick Yu-Wai-Man

Veronika Boczonadi

P577

2016-08-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27854233

http://www.w3.org/2001/XMLSchema#string

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.

about

P2860

P2860

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698