Disorders of riboflavin metabolism

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

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin

(2018) G. Heimer et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

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

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

(2017) M. Auranen et al.   NEUROMUSCULAR DISORDERS

Riboflavin Has Neuroprotective Potential: Focus on Parkinson’s Disease and Migraine

(2017) Eyad T. Marashly et al.   Frontiers in Neurology

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

Riboflavin transport and metabolism in humans

(2016) Maria Barile 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

B Vitamins and the Brain: Mechanisms, Dose and Efficacy—A Review

(2016) David Kennedy   Nutrients

Riboflavin

(2016) John T Pinto et al.   Advances in Nutrition

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

(2015) Marie Collet et al.   EUROPEAN JOURNAL OF HUMAN 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

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

(2014) Rosalba Carrozzo et al.   MITOCHONDRION

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

(2014) Sarah C Grünert   Orphanet Journal of Rare Diseases

Alteration of ROS Homeostasis and Decreased Lifespan inS. cerevisiaeElicited by Deletion of the Mitochondrial TranslocatorFLX1

(2014) Teresa Anna Giancaspero et al.   Biomed Research International

The human flavoproteome

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

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies

(2013) Jessica Nouws et al.   HUMAN MOLECULAR GENETICS

FAD Synthesis and Degradation in the Nucleus Create a Local Flavin Cofactor Pool

(2013) Teresa Anna Giancaspero et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

(2012) Carlo Rinaldi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

(2010) Daniele Ghezzi 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

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

AIF: Not Just an Apoptosis-Inducing Factor

(2009) Nicholas Joza et al.   Annals of the New York Academy of Sciences

Riboflavin kinase couples TNF receptor 1 to NADPH oxidase

(2009) Benjamin Yazdanpanah et al.   NATURE

Maternal intake of fat, riboflavin and nicotinamide and the risk of having offspring with congenital heart defects

(2008) Huberdina P. M. Smedts et al.   EUROPEAN JOURNAL OF NUTRITION