CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
about
Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesisA nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial diseaseABC1K atypical kinases in plants: filling the organellar kinase voidCerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase ActivityOverexpression of the Coq8 kinase in Saccharomyces cerevisiae coq null mutants allows for accumulation of diagnostic intermediates of the coenzyme Q6 biosynthetic pathway.Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutantsTreatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effectsMutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansAarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal AccumulationAutosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisationHistorical perspective on mitochondrial medicineBacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseasesCitrulline Supplementation Induces Changes in Body Composition and Limits Age-Related Metabolic Changes in Healthy Male Rats.Coenzyme Q10 and Neurological Diseases.Coenzyme Q protects Caenorhabditis elegans GABA neurons from calcium-dependent degeneration.Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.EFNS guidelines on the molecular diagnosis of mitochondrial disorders.Mitochondrial dysfunction in inherited renal disease and acute kidney injuryClinical presentations of coenzyme q10 deficiency syndromePathomechanisms in coenzyme q10-deficient human fibroblasts.Biochemical diagnosis of coenzyme q10 deficiency.An overview of current mouse models recapitulating coenzyme q10 deficiency syndromeEffects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3.TaABC1, a member of the activity of bc1 complex protein kinase family from common wheat, confers enhanced tolerance to abiotic stresses in Arabidopsis.New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQExome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patientRenal mitochondrial cytopathies.Comparison of the ventricle muscle proteome between patients with rheumatic heart disease and controls with mitral valve prolapse: HSP 60 may be a specific protein in RHD.176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiencyMolecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Renal involvement in mitochondrial cytopathies.CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.CLD1 Reverses the Ubiquinone Insufficiency of Mutant cat5/coq7 in a Saccharomyces cerevisiae Model System.Mitochondrial function and lifespan of mice with controlled ubiquinone biosynthesisHeterogeneity of coenzyme Q10 deficiency: patient study and literature review.Coenzyme Q10 supplementation rescues renal disease in Pdss2kd/kd mice with mutations in prenyl diphosphate synthase subunit 2
P2860
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P2860
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
description
2008 nî lūn-bûn
@nan
2008 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մարտին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
@ast
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
@en
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
@nl
type
label
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
@ast
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
@en
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
@nl
prefLabel
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
@ast
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
@en
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
@nl
P2093
P2860
P50
P3181
P1476
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
@en
P2093
Agnès Delahodde
Anne Lombes
Dimitri Schlemmer
Isabelle Desguerre
Julie Mollet
Pascale de Lonlay
Valérie Serre
P2860
P304
P3181
P356
10.1016/J.AJHG.2007.12.022
P407
P577
2008-03-01T00:00:00Z