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

Riboflavin: The Health Benefits of a Forgotten Natural Vitamin

(2020) Nittiya Suwannasom et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Multiple acyl-COA dehydrogenase deficiency in elderly carriers

(2020) Francesco Macchione et al.   JOURNAL OF NEUROLOGY

Child Neurology: Ethylmalonic encephalopathy

(2020) Periyasamy Govindaraj et al.   NEUROLOGY

Biological roles of LSD1 beyond its demethylase activity

(2020) Feiying Gu et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency

(2020) Tânia G. Lucas et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

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

Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy

(2019) Allison Tam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

FLAD1 ‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

(2019) Kai Muru et al.   Molecular Genetics & Genomic Medicine

Consumption of Milk and Alternatives and Their Contribution to Nutrient Intakes among Canadian Adults: Evidence from the 2015 Canadian Community Health Survey—Nutrition

(2019) Auclair et al.   Nutrients

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy

(2018) M. Boyer et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Diverse Roles of Mitochondria in Immune Responses: Novel Insights Into Immuno-Metabolism

(2018) Anusha Angajala et al.   Frontiers in Immunology

Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer

(2018) Daniele Bano et al.   EBioMedicine

Both ETFDH mutations and FAD homeostasis disturbance are essential for developing riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency

(2018) Jingwen Xu et al.   ANNALS OF NEUROLOGY

FLAD1 , encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

(2018) Judit García-Villoria et al.   CLINICAL GENETICS

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

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

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation inMTTL1

(2017) N. Darin et al.   EUROPEAN JOURNAL OF NEUROLOGY

Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms

(2017) Zahra Nochi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways

(2017) Matthis Synofzik et al.   MOVEMENT DISORDERS

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

(2017) M. Auranen et al.   NEUROMUSCULAR DISORDERS

Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases

(2017) Tamilarasan Udhayabanu et al.   Journal of Clinical Medicine

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

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease

(2016) Carlo Dionisi-Vici et al.   BRAIN

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB

(2016) Nunziata Maio et al.   Cell Metabolism

The Effects of Vitamin B in Depression

(2016) Kathleen Mikkelsen et al.   CURRENT MEDICINAL CHEMISTRY

The role of glutathione reductase and related enzymes on cellular redox homoeostasis network

(2016) Narciso Couto et al.   FREE RADICAL BIOLOGY AND MEDICINE

Riboflavin transport and metabolism in humans

(2016) Maria Barile et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cognitive decline: A vitamin B perspective

(2016) Kathleen Mikkelsen et al.   MATURITAS

Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine

(2016) Mustafa Kılıç et al.   METABOLIC BRAIN DISEASE

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

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

Severe early onset ethylmalonic encephalopathy with West syndrome

(2015) Laura Papetti et al.   METABOLIC BRAIN DISEASE

A short introduction to acyl-CoA dehydrogenases; deficiencies and novel treatment strategies

(2015) Martin Lund et al.   Expert Opinion on Orphan Drugs

Remaining challenges in cellular flavin cofactor homeostasis and flavoprotein biogenesis

(2015) Teresa A. Giancaspero et al.   Frontiers in Chemistry

Lactic acid bacteria as a cell factory for riboflavin production

(2015) Kiran Thakur et al.   Microbial Biotechnology

Folate and Vitamin B12 Metabolism: Overview and Interaction with Riboflavin, Vitamin B6, and Polymorphisms

(2015) Barry Shane   FOOD AND NUTRITION BULLETIN

NADPH oxidases: an overview from structure to innate immunity-associated pathologies

(2014) Arvind Panday et al.   Cellular & Molecular Immunology

Organization of the Human Mitochondrial Hydrogen Sulfide Oxidation Pathway

(2014) Marouane Libiad et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency

(2014) Terry G. J. Derks et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2014) Sarah C Grünert   Orphanet Journal of Rare Diseases

From Cholesterogenesis to Steroidogenesis: Role of Riboflavin and Flavoenzymes in the Biosynthesis of Vitamin D

(2014) John T. Pinto et al.   Advances in Nutrition

The emerging role of nutrition in Parkinson's disease

(2014) Stacey E. Seidl et al.   Frontiers in Aging Neuroscience

Complex II deficiency-A case report and review of the literature

(2013) Shailly Jain-Ghai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The human flavoproteome

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

Structures of mitochondrial oxidative phosphorylation supercomplexes and mechanisms for their stabilisation

(2013) Yuriy Chaban et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency

(2013) N. Cornelius et al.   HUMAN MOLECULAR GENETICS

Supercomplex Assembly Determines Electron Flux in the Mitochondrial Electron Transport Chain

(2013) E. Lapuente-Brun et al.   SCIENCE

Silencing of FAD synthase gene in Caenorhabditis elegans upsets protein homeostasis and impacts on complex behavioral patterns

(2012) Vania C. Liuzzi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

(2012) Janel O. Johnson et al.   BRAIN

Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease

(2012) Juan Garrido-Maraver et al.   BRITISH JOURNAL OF PHARMACOLOGY

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

An Infant With Ethylmalonic Encephalopathy Masquerading as a Hematologic Disorder

(2012) Evangelos Pavlou et al.   JOURNAL OF CHILD NEUROLOGY

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

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

(2012) Tobias B Haack et al.   JOURNAL OF MEDICAL GENETICS

B Vitamins in Breast Milk: Relative Importance of Maternal Status and Intake, and Effects on Infant Status and function

(2012) Lindsay H. Allen   Advances in Nutrition

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

Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases

(2011) Tânia G. Lucas et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress

(2011) Bárbara J. Henriques et al.   FEBS LETTERS

B-Group vitamin production by lactic acid bacteria - current knowledge and potential applications

(2011) J.G. LeBlanc et al.   JOURNAL OF APPLIED MICROBIOLOGY

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

Oxidative Protein Folding and the Quiescin–Sulfhydryl Oxidase Family of Flavoproteins

(2010) Vamsi K. Kodali et al.   ANTIOXIDANTS & REDOX SIGNALING

Chronic Exposure to Sulfide Causes Accelerated Degradation of Cytochrome c Oxidase in Ethylmalonic Encephalopathy

(2010) Ivano Di Meo et al.   ANTIOXIDANTS & REDOX SIGNALING

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

(2010) Mike Gerards et al.   BRAIN

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

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

Mitochondrial localization of human FAD synthetase isoform 1

(2010) Enza Maria Torchetti et al.   MITOCHONDRION

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

(2010) Carlo Viscomi et al.   NATURE MEDICINE

Flavin Adenine Dinucleotide Status and the Effects of High-Dose Riboflavin Treatment in Short-Chain Acyl-CoA Dehydrogenase Deficiency

(2010) Bianca T van Maldegem et al.   PEDIATRIC RESEARCH

Clinical Heterogeneity in Ethylmalonic Encephalopathy

(2009) Nicole Pigeon et al.   JOURNAL OF CHILD NEUROLOGY

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

Nutrition and Athletic Performance

(2009)   MEDICINE AND SCIENCE IN SPORTS AND EXERCISE

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

(2009) Daniele Ghezzi et al.   NATURE GENETICS

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

(2009) Valeria Tiranti et al.   NATURE MEDICINE

Converging concepts of protein folding in vitro and in vivo

(2009) F Ulrich Hartl et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Three enzymatic activities catalyze the oxidation of sulfide to thiosulfate in mammalian and invertebrate mitochondria

(2008) Tatjana M. Hildebrandt et al.   FEBS Journal

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

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

A severe case of encephalopathy with ethylmalonic aciduria and generalized vasculopathy

(2008) A Hack et al.   NEUROPEDIATRICS