标题
Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies
作者
关键词
Multiple acyl-CoA dehydrogenase deficiency, Glutaric aciduria type II, ETF, ETFDH, FAD, Riboflavin homeostasis
出版物
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
Volume 132, Issue -, Pages 105899
出版商
Elsevier BV
发表日期
2020-12-04
DOI
10.1016/j.biocel.2020.105899
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
- (2020) Willemijn J. van Rijt et al. GENETICS IN MEDICINE
- Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism
- (2020) Signe Mosegaard et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy
- (2020) Maria Tolomeo et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report
- (2019) Kenji Yamada et al. BRAIN & DEVELOPMENT
- Biochemical characterization of human D-2-hydroxyglutarate dehydrogenase and two disease related variants reveals the molecular cause of D-2-hydroxyglutaric aciduria
- (2019) Marina Toplak et al. BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS
- Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study
- (2019) Willemijn J. Rijt et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency
- (2019) Yılmaz Yıldız et al. PEDIATRIC NEUROLOGY
- An acyl-CoA dehydrogenase microplate activity assay using recombinant porcine electron transfer flavoprotein
- (2019) Yuxun Zhang et al. ANALYTICAL BIOCHEMISTRY
- FLAD1 ‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening
- (2019) Kai Muru et al. Molecular Genetics & Genomic Medicine
- A call for global action for rare diseases in Africa
- (2019) Gareth S. Baynam et al. NATURE GENETICS
- Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?
- (2018) Piero Leone et al. MOLECULES
- Post-Mortem Detection of FLAD1 Mutations in 2 Turkish Siblings with Hypotonia in Early Infancy
- (2018) Yılmaz Yıldız et al. NEUROMUSCULAR DISORDERS
- The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa
- (2018) Shaakira Chaya et al. Seminars in Pediatric Neurology
- Lipid storage myopathies: Current treatments and future directions
- (2018) Emily R. Vasiljevski et al. PROGRESS IN LIPID RESEARCH
- Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype
- (2017) Debby M E I Hellebrekers et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
- (2017) Signe Mosegaard et al. MOLECULAR GENETICS AND METABOLISM
- Medical research: Next decade's goals for rare diseases
- (2017) Christopher P. Austin et al. NATURE
- Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy
- (2017) M. Auranen et al. NEUROMUSCULAR DISORDERS
- A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era
- (2017) Johannes Mayr et al. NEUROPEDIATRICS
- Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
- (2016) Rikke K.J. Olsen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders
- (2016) Sander M. Houten et al. Annual Review of Physiology
- Riboflavin transport and metabolism in humans
- (2016) Maria Barile et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience
- (2016) Bregje Jaeger et al. JOURNAL OF INHERITED METABOLIC DISEASE
- SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance
- (2016) Manuel Schiff et al. NEW ENGLAND JOURNAL OF MEDICINE
- Proline dehydrogenase 2 (PRODH2) is a hydroxyproline dehydrogenase (HYPDH) and molecular target for treating primary hyperoxaluria
- (2015) Candice B. Summitt et al. BIOCHEMICAL JOURNAL
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Whole exome sequencing of suspected mitochondrial patients in clinical practice
- (2015) Saskia B. Wortmann et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Remaining challenges in cellular flavin cofactor homeostasis and flavoprotein biogenesis
- (2015) Teresa A. Giancaspero et al. Frontiers in Chemistry
- Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts
- (2014) N. Cornelius et al. HUMAN MOLECULAR GENETICS
- Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
- (2014) Robert W. Taylor et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
- (2014) Sarah C Grünert Orphanet Journal of Rare Diseases
- Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism
- (2013) Sara Violante et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
- (2013) A. Reghan Foley et al. BRAIN
- A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
- (2013) Kornelia Neveling et al. HUMAN MUTATION
- Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency
- (2013) Jianying Xi et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Targeted exome sequencing of suspected mitochondrial disorders
- (2013) D. S. Lieber et al. NEUROLOGY
- Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
- (2012) Janel O. Johnson et al. BRAIN
- Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency
- (2012) N. Cornelius et al. HUMAN MOLECULAR GENETICS
- Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome
- (2012) Tobias B. Haack et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: Evaluation by in vitro probe acylcarnitine assay
- (2012) Seiji Yamaguchi et al. MOLECULAR GENETICS AND METABOLISM
- The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
- (2012) Annet M Bosch et al. Orphanet Journal of Rare Diseases
- 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
- 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
- The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
- (2010) Ronald J. A. Wanders 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
- A Conserved Active Site Tyrosine Residue of Proline Dehydrogenase Helps Enforce the Preference for Proline over Hydroxyproline as the Substrate†‡
- (2009) Elizabeth L. Ostrander et al. BIOCHEMISTRY
- Role of Flavinylation in a Mild Variant of Multiple Acyl-CoA Dehydrogenation Deficiency
- (2008) Bárbara J. Henriques et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Weight Loss with a Low-Carbohydrate, Mediterranean, or Low-Fat Diet
- (2008) Iris Shai et al. NEW ENGLAND JOURNAL OF MEDICINE
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