Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency
Published 2012 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency
Authors
Keywords
-
Journal
HUMAN MOLECULAR GENETICS
Volume 21, Issue 15, Pages 3435-3448
Publisher
Oxford University Press (OUP)
Online
2012-05-20
DOI
10.1093/hmg/dds175
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A
- (2011) Zhi-Qiang Wang et al. JOURNAL OF MOLECULAR MEDICINE-JMM
- Proteomics Reveals that Redox Regulation Is Disrupted in Patients with Ethylmalonic Encephalopathy
- (2011) Johan Palmfeldt et al. JOURNAL OF PROTEOME RESEARCH
- Multiple Acyl-CoA-dehydrogenase deficiency (MADD) — A novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH
- (2011) A.B. Lämmer et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif
- (2011) Tze-Kiong Er et al. BMC STRUCTURAL BIOLOGY
- Exome Sequencing in Brown-Vialetto-Van Laere Syndrome
- (2010) Janel O. Johnson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54
- (2010) Peter Green et al. AMERICAN JOURNAL OF HUMAN GENETICS
- High resolution melting analysis facilitates mutation screening of ETFDH gene: Applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
- (2010) Tze-Kiong Er et al. CLINICA CHIMICA ACTA
- High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy
- (2010) M-Y Lan et al. CLINICAL GENETICS
- Emerging Roles for Riboflavin in Functional Rescue of Mitochondrial β-Oxidation Flavoenzymes
- (2010) Barbara J. Henriques et al. CURRENT MEDICINAL CHEMISTRY
- Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B
- (2010) Gladys Ho et al. HUMAN MUTATION
- Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria
- (2010) Christina B. Pedersen et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
- (2010) Annet M. Bosch et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress
- (2010) S.P. Schmidt et al. MOLECULAR GENETICS AND METABOLISM
- Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
- (2009) Lap-Kay Law et al. CLINICA CHIMICA ACTA
- Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations
- (2009) B. Wen et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
- (2009) Wen-Chen Liang et al. NEUROMUSCULAR DISORDERS
- The Iron−Sulfur Cluster of Electron Transfer Flavoprotein−Ubiquinone Oxidoreductase Is the Electron Acceptor for Electron Transfer Flavoprotein†
- (2008) Michael A. Swanson et al. BIOCHEMISTRY
- The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level
- (2008) Christina B. Pedersen et al. HUMAN GENETICS
- Role of Flavinylation in a Mild Variant of Multiple Acyl-CoA Dehydrogenation Deficiency
- (2008) Bárbara J. Henriques et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Mitochondrial fatty acid oxidation defects—remaining challenges
- (2008) Niels Gregersen et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Impact of Mutations on the Midpoint Potential of the [4Fe-4S]+1,+2Cluster and on Catalytic Activity in Electron Transfer Flavoprotein-ubiquinone Oxidoreductase (ETF-QO)†
- (2007) Robert J. Usselman et al. BIOCHEMISTRY
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now