Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
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Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative DiseasesDeep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy MetabolismLethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.A guide to diagnosis and treatment of Leigh syndrome.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratoriesMitochondrial encephalomyopathy due to a novel mutation in ACAD9.An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach.Development of pharmacological strategies for mitochondrial disorders.The biochemical and cellular basis for nutraceutical strategies to attenuate neurodegeneration in Parkinson's diseaseMitochondrial disorders caused by mutations in respiratory chain assembly factors.The molecular basis of human complex I deficiency.Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).Drugs and mitochondrial diseases: 40 queries and answers.Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.Emerging aspects of treatment in mitochondrial disorders.Riboflavin Has Neuroprotective Potential: Focus on Parkinson's Disease and Migraine.Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases.Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.Replacement of the C6ORF66 assembly factor (NDUFAF4) restores complex I activity in patient cells.High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.Severe riboflavin deficiency induces alterations in the hepatic proteome of starter Pekin ducks.Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.Treatable mitochondrial diseases: cofactor metabolism and beyond.Identification of the Catalytic Residue of Rat Acyl-CoA Dehydrogenase 9 by Site-Directed Mutagenesis.Mitochondrial Agents for Bipolar Disorder.Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Human diseases associated with defects in assembly of OXPHOS complexesMitochondriopathien – neue Trends in Diagnostik und TherapieExomdiagnostik verändert die Sicht auf Mitochondriopathien
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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
description
article
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im Oktober 2010 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
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наукова стаття, опублікована в жовтні 2010
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name
Riboflavin-responsive oxidativ ...... : new function for an old gene
@en
Riboflavin-responsive oxidativ ...... : new function for an old gene
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type
label
Riboflavin-responsive oxidativ ...... : new function for an old gene
@en
Riboflavin-responsive oxidativ ...... : new function for an old gene
@nl
prefLabel
Riboflavin-responsive oxidativ ...... : new function for an old gene
@en
Riboflavin-responsive oxidativ ...... : new function for an old gene
@nl
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P50
P356
P1433
P1476
Riboflavin-responsive oxidativ ...... : new function for an old gene
@en
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Bianca J. C. van den Bosch
Gerry A. F. Nicolaes
Hans R. Scholte
Hubert J. M. Smeets
Irenaeus F. M. de Coo
Katharina Danhauser
Kees Schoonderwoerd
Mike Gerards
Valérie Serre
Wim Sluiter
P2860
P304
P356
10.1093/BRAIN/AWQ273
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P577
2010-10-07T00:00:00Z