New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases

Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism

(2022) Min-Zhi Peng et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Folate Pathway Gene Single Nucleotide Polymorphisms and Neural Tube Defects: A Systematic Review and Meta-Analysis

(2022) Ahmad K. Almekkawi et al.   Journal of Personalized Medicine

CHIP control degradation of mutant ETF : QO through ubiquitylation in late‐onset multiple acyl‐CoA dehydrogenase deficiency

(2021) Xin‐Yi Liu et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency

(2021) Po-Yu Lin et al.   BMC Neurology

Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2

(2021) Lara Console et al.   IUBMB LIFE

Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?

(2021) Naig Gueguen et al.   MITOCHONDRION

Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities

(2021) Guillaume Carey et al.   NEUROMUSCULAR DISORDERS

BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene

(2021) Ziqiang Liu et al.   CLINICA CHIMICA ACTA

Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency

(2021) Bushra Al Shamsi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Multiple acyl-COA dehydrogenase deficiency in elderly carriers

(2020) Francesco Macchione et al.   JOURNAL OF NEUROLOGY

Interaction of serum vitamin B12 and folate with MTHFR genotypes on risk of ischemic stroke

(2020) Xianhui Qin et al.   NEUROLOGY

A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment

(2020) Christophe Carreau et al.   Annals of Clinical and Translational Neurology

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

(2020) Signe Mosegaard et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies

(2020) Christophe Carreau et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Association between high blood pressure and long term cardiovascular events in young adults: systematic review and meta-analysis

(2020) Dongling Luo et al.   BMJ-British Medical Journal

5,10-methylenetetrahydrofolate reductase C677T gene polymorphism and peripheral arterial disease: A meta-analysis

(2020) Fanyun Liu et al.   Vascular

Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies

(2020) Michelle Mereis et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Disorders of riboflavin metabolism

(2019) Shanti Balasubramaniam et al.   JOURNAL OF INHERITED METABOLIC DISEASE

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

(2019) Benjamin O'Callaghan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency

(2019) Hai-zhu Chen et al.   CHINESE MEDICAL JOURNAL

Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations

(2019) Wei Chen et al.   BMC Neurology

Mutation of Aspartate 238 in FAD Synthase Isoform 6 Increases the Specific Activity by Weakening the FAD Binding

(2019) Piero Leone et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report

(2018) Liuh Ling Goh et al.   BMC Medical Genomics

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

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

(2018) Birgit M. Repp et al.   Orphanet Journal of Rare Diseases

Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition

(2018) D. Sean Froese et al.   Nature Communications

Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

(2018) Sara Missaglia et al.   Lipids in Health and Disease

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

(2017) Debby M E I Hellebrekers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature

(2017) Tyler Allison et al.   JOURNAL OF CHILD NEUROLOGY

Riboflavin, MTHFR genotype and blood pressure: A personalized approach to prevention and treatment of hypertension

(2017) Helene McNulty et al.   MOLECULAR ASPECTS OF MEDICINE

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

Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy

(2017) M. Auranen et al.   NEUROMUSCULAR DISORDERS

Translation of Nutritional Genomics into Nutrition Practice: The Next Step

(2017) Chiara Murgia et al.   Nutrients

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

SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters

(2016) Tamilarasan Udhayabanu et al.   CLINICA CHIMICA ACTA

The Role of Therapeutic Drugs on Acquired Mitochondrial Toxicity

(2016) Constanza Morén et al.   CURRENT DRUG METABOLISM

Drug-Induced Mitochondrial Toxicity

(2016) Iain P. Hargreaves et al.   DRUG SAFETY

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

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients

(2016) Joseph P. Dewulf et al.   MOLECULAR GENETICS AND METABOLISM

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

(2016) Manuel Schiff et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease

(2016) A. Béhin et al.   REVUE NEUROLOGIQUE

Human FAD synthase is a bi-functional enzyme with a FAD hydrolase activity in the molybdopterin binding domain

(2015) Teresa Anna Giancaspero et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Adult onset Brown–Vialetto–Van Laere syndrome with opsoclonus and a novel heterozygous mutation: A case report

(2015) Jeremy Cosgrove et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: Epidemiology, metabolism and the associated diseases

(2015) Siaw-Cheok Liew et al.   European Journal of Medical Genetics

Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases and a literature review in mainland Chinese patients

(2014) Min Zhu et al.   JOURNAL OF HUMAN GENETICS

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

(2014) Sarah C Grünert   Orphanet Journal of Rare Diseases

The human flavoproteome

(2013) Wolf-Dieter Lienhart et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

(2013) A. Reghan Foley et al.   BRAIN

Novel riboflavin transporter family RFVT/SLC52: Identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52

(2013) Atsushi Yonezawa et al.   MOLECULAR ASPECTS OF MEDICINE

Riboflavin offers a targeted strategy for managing hypertension in patients with the MTHFR 677TT genotype: a 4-y follow-up

(2012) Carol P Wilson et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Bacteria as vitamin suppliers to their host: a gut microbiota perspective

(2012) Jean Guy LeBlanc et al.   CURRENT OPINION IN BIOTECHNOLOGY

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

Bacterial Over-Expression and Purification of the 3'phosphoadenosine 5'phosphosulfate (PAPS) Reductase Domain of Human FAD Synthase: Functional Characterization and Homology Modeling

(2012) Angelica Miccolis et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

Correcting a marginal riboflavin deficiency improves hematologic status in young women in the United Kingdom (RIBOFEM)

(2011) Hilary J Powers et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Human FAD synthase (isoform 2): a component of the machinery that delivers FAD to apo-flavoproteins

(2011) Enza M. Torchetti et al.   FEBS Journal

Strong association of methylenetetrahydrofolate reductase gene C677T polymorphism with hypertension and hypertension-in-pregnancy in Chinese: a meta-analysis

(2011) W-Q Niu et al.   JOURNAL OF HUMAN HYPERTENSION

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

Assembling Complex I with ACAD9

(2010) Immo E. Scheffler   Cell Metabolism

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

(2010) Jessica Nouws et al.   Cell Metabolism

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

Riboflavin lowers blood pressure in cardiovascular disease patients homozygous for the 677C→T polymorphism in MTHFR

(2010) Geraldine Horigan et al.   JOURNAL OF HYPERTENSION

Homocysteine and vascular disease: review of published results of the homocysteine-lowering trials

(2010) Robert Clarke 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

Crystal Structure of Yeast FAD Synthetase (Fad1) in Complex with FAD

(2010) Nicolas Leulliot et al.   JOURNAL OF MOLECULAR BIOLOGY

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

Structure and Mechanism of a Eukaryotic FMN Adenylyltransferase

(2009) Carlos Huerta et al.   JOURNAL OF MOLECULAR BIOLOGY

Micronutrient intakes in two us populations of older adults: Lipid research clinics program prevalence study findings

(2009) J. J. B. Anderson et al.   Journal of Nutrition Health & Aging

Riboflavin kinase couples TNF receptor 1 to NADPH oxidase

(2009) Benjamin Yazdanpanah et al.   NATURE

Genome-wide association study identifies eight loci associated with blood pressure

(2009) Christopher Newton-Cheh et al.   NATURE GENETICS

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

Role of Flavinylation in a Mild Variant of Multiple Acyl-CoA Dehydrogenation Deficiency

(2008) Bárbara J. Henriques et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural Basis for Substrate Fatty Acyl Chain Specificity

(2008) Ryan P. McAndrew et al.   JOURNAL OF BIOLOGICAL CHEMISTRY