Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy

Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses

(2020) Bahareh Rabbani et al.   JOURNAL OF CLINICAL NEUROSCIENCE

SLC25A32 sustains cancer cell proliferation by regulating flavin adenine nucleotide (FAD) metabolism

(2020) Valeria Santoro et al.   Oncotarget

Two genomes one cell: mitochondrial-nuclear coordination via epigenetic pathways

(2020) Meike Wiese et al.   Molecular Metabolism

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

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

Prominent action of butyrate over β-hydroxybutyrate as histone deacetylase inhibitor, transcriptional modulator and anti-inflammatory molecule

(2019) Sabrina Chriett et al.   Scientific Reports

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

Identification of transmembrane protein 237 as a novel interactor with the intestinal riboflavin transporter-3 (RFVT-3): role in functionality and cell biology

(2019) Subrata Sabui et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin

(2019) Kaili Shi et al.   BMC Medical Genetics

Closing the gap: yeast electron‐transferring flavoprotein links the oxidation of d ‐lactate and d ‐α‐hydroxyglutarate to energy production via the respiratory chain

(2019) Marina Toplak et al.   FEBS Journal

The hidden side of the human FAD synthase 2

(2019) Piero Leone et al.   INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES

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

Reconstitution in Proteoliposomes of the Recombinant Human Riboflavin Transporter 2 (SLC52A2) Overexpressed in E. coli

(2019) Lara Console et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

(2019) Fatima Amir et al.   JOURNAL OF CHILD NEUROLOGY

The Expression of Riboflavin Transporters in Human Colorectal Cancer

(2018)   ANTICANCER RESEARCH

SLC52A3 expression is activated by NF-κB p65/Rel-B and serves as a prognostic biomarker in esophageal cancer

(2018) Lin Long et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

The unassembled flavoprotein subunits of human and bacterial complex II have impaired catalytic activity and generate only minor amounts of ROS

(2018) Elena Maklashina et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Characterization of a non-nudix pyrophosphatase points to interplay between flavin and NAD(H) homeostasis in Saccharomyces cerevisiae

(2018) Joseph H. Lynch et al.   PLoS One

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa

(2018) Shaakira Chaya et al.   Seminars in Pediatric Neurology

Effect of the pro-inflammatory cytokine TNF-α on intestinal riboflavin uptake: Inhibition mediated via transcriptional mechanism(s)

(2018) Kasin Yadunandam Anandam et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

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

Sodium Butyrate Enhances Intestinal Riboflavin Uptake via Induction of Expression of Riboflavin Transporter-3 (RFVT3)

(2018) Veedamali S. Subramanian et al.   DIGESTIVE DISEASES AND SCIENCES

Child Neurology: Brown-Vialetto-Van Laere syndrome

(2018) Ahmed K. Bamaga et al.   NEUROLOGY

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

(2018) Sorina Gorcenco et al.   PARKINSONISM & RELATED DISORDERS

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

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

Discovery of antimicrobial compounds targeting bacterial type FAD synthetases

(2017) María Sebastián et al.   JOURNAL OF ENZYME INHIBITION AND MEDICINAL CHEMISTRY

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

Flavins as Covalent Catalysts: New Mechanisms Emerge

(2017) Valentina Piano et al.   TRENDS IN BIOCHEMICAL SCIENCES

Three cysteine residues of SLC52A1, a receptor for the porcine endogenous retrovirus-A (PERV-A), play a critical role in cell surface expression and infectivity

(2017) Winston Colon-Moran et al.   VIROLOGY

FAD Regulates CRYPTOCHROME Protein Stability and Circadian Clock in Mice

(2017) Arisa Hirano et al.   Cell Reports

SLC25 Family Member Genetic Interactions Identify a Role for HEM25 in Yeast Electron Transport Chain Stability

(2017) J. Noelia Dufay et al.   G3-Genes Genomes Genetics

A vitamin-B2-sensing mechanism that regulates gut protease activity to impact animal’s food behavior and growth

(2017) Bin Qi et al.   eLife

Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases

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

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown–Vialetto disease that is partially rescued by riboflavin

(2017) Federica Rizzo et al.   Scientific Reports

The FAD synthetase from the human pathogen Streptococcus pneumoniae: a bifunctional enzyme exhibiting activity-dependent redox requirements

(2017) María Sebastián et al.   Scientific Reports

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

Conditional (intestinal-specific) knockout of the riboflavin transporter-3 (RFVT-3) impairs riboflavin absorption

(2016) Veedamali S. Subramanian et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Biotechnology of riboflavin

(2016) Susanne Katharina Schwechheimer et al.   APPLIED MICROBIOLOGY AND BIOTECHNOLOGY

The multidrug transporter ABCG2: still more questions than answers

(2016) A. J. Horsey et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Mitochondrial Dysfunction and Biogenesis in Neurodegenerative diseases: Pathogenesis and Treatment

(2016) Mojtaba Golpich et al.   CNS Neuroscience & Therapeutics

SLC52A3, A Brown–Vialetto–van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation

(2016) Atsushi Intoh et al.   HUMAN MOLECULAR GENETICS

Riboflavin transport and metabolism in humans

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

Structure/Function Relations in AIFM1 Variants Associated with Neurodegenerative Disorders

(2016) Irina F. Sevrioukova   JOURNAL OF MOLECULAR BIOLOGY

Metabolism and the UPR mt

(2016) Yi-Fan Lin et al.   MOLECULAR CELL

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

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

Riboflavin

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

Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice

(2016) Hiroki Yoshimatsu et al.   Scientific Reports

Identification and characterization of the minimal 5′-regulatory region of the human riboflavin transporter-3 (SLC52A3) in intestinal epithelial cells

(2015) Abhisek Ghosal et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

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

Key Residues Regulating the Reductase Activity of the Human Mitochondrial Apoptosis Inducing Factor

(2015) Raquel Villanueva et al.   BIOCHEMISTRY

Key Role of the Adenylate Moiety and Integrity of the Adenylate-Binding Site for the NAD+/H Binding to Mitochondrial Apoptosis-Inducing Factor

(2015) Luca Sorrentino et al.   BIOCHEMISTRY

Redox State of Flavin Adenine Dinucleotide Drives Substrate Binding and Product Release in Escherichia coli Succinate Dehydrogenase

(2015) Victor W. T. Cheng et al.   BIOCHEMISTRY

Oxidative protein folding: From thiol–disulfide exchange reactions to the redox poise of the endoplasmic reticulum

(2015) Devin A. Hudson et al.   FREE RADICAL BIOLOGY AND MEDICINE

Riboflavin transporter-2 (rft-2) of Caenorhabditis elegans: Adaptive and developmental regulation

(2015) Krishnan Gandhimathi et al.   JOURNAL OF BIOSCIENCES

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

(2015) Liang Zong et al.   JOURNAL OF MEDICAL GENETICS

From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1

(2015) Matthias Kettwig et al.   MITOCHONDRION

Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis

(2015) Emilie Hangen et al.   MOLECULAR CELL

Retro-translocation of mitochondrial intermembrane space proteins

(2015) Piotr Bragoszewski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of apoptosis-inducing factor critically affects MIA40 function

(2015) K Meyer et al.   Cell Death & Disease

Remaining challenges in cellular flavin cofactor homeostasis and flavoprotein biogenesis

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

Molecular Mechanisms Mediating the Adaptive Regulation of Intestinal Riboflavin Uptake Process

(2015) Veedamali S. Subramanian et al.   PLoS One

Significance of redox-active cysteines in human FAD synthase isoform 2

(2014) Angelica Miccolis et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

The flavoproteome of the yeast Saccharomyces cerevisiae

(2014) Venugopal Gudipati et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Identification and characterization of 5′-flanking region of the human riboflavin transporter 1 gene (SLC52A1)

(2014) Subrata Sabui et al.   GENE

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

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

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

(2013) A. Reghan Foley et al.   BRAIN

Biosynthesis of Flavin Cofactors in Man: Implications in Health and Disease

(2013) Maria Barile et al.   CURRENT PHARMACEUTICAL DESIGN

Riboflavin (vitamin B2) deficiency impairs NADPH oxidase 2 (Nox2) priming and defense againstListeria monocytogenes

(2013) Michael Schramm et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Involvement of riboflavin transporter RFVT2/Slc52a2 in hepatic homeostasis of riboflavin in mice

(2013) Yoshiaki Yao et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

The thioredoxin antioxidant system

(2013) Jun Lu et al.   FREE RADICAL BIOLOGY AND MEDICINE

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

Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models

(2013) Jordi Magrané 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

Genetic and cellular modifiers of oxidative stress: What can we learn from fatty acid oxidation defects?

(2013) Rikke Katrine Jentoft Olsen et al.   MOLECULAR GENETICS AND METABOLISM

A Regulatory Role of NAD Redox Status on Flavin Cofactor Homeostasis inS. cerevisiaeMitochondria

(2013) Teresa Anna Giancaspero et al.   Oxidative Medicine and Cellular Longevity

Identification and Functional Characterization of the Caenorhabditis elegans Riboflavin Transporters rft-1 and rft-2

(2013) Arundhati Biswas et al.   PLoS One

Multi-organ Abnormalities and mTORC1 Activation in Zebrafish Model of Multiple Acyl-CoA Dehydrogenase Deficiency

(2013) Seok-Hyung Kim et al.   PLoS Genetics

Mechanism and regulation of vitamin B2 (riboflavin) uptake by mouse and human pancreatic β-cells/islets: physiological and molecular aspects

(2012) Abhisek Ghosal et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

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

Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila

(2012) Ema Alves et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

(2012) Janel O. Johnson et al.   BRAIN

Molecular and functional characterization of riboflavin specific transport system in rat brain capillary endothelial cells

(2012) Mitesh Patel et al.   BRAIN RESEARCH

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

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

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

(2012) Marianna Ciccolella et al.   JOURNAL OF MEDICAL GENETICS

FAD-dependent lysine-specific demethylase-1 regulates cellular energy expenditure

(2012) Shinjiro Hino et al.   Nature Communications

Differential expression of human riboflavin transporters -1, -2, and -3 in polarized epithelia: A key role for hRFT-2 in intestinal riboflavin uptake

(2011) Veedamali S. Subramanian et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Role of peroxisomes in ROS/RNS-metabolism: Implications for human disease

(2011) Marc Fransen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

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

Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency

(2011) H. Rocha et al.   Journal of Proteomics

Taking a “good” look at free radicals in the aging process

(2011) Siegfried Hekimi et al.   TRENDS IN CELL BIOLOGY

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

Apoptosis-Inducing Factor: Structure, Function, and Redox Regulation

(2010) Irina F. Sevrioukova   ANTIOXIDANTS & REDOX SIGNALING

The electron transfer flavoprotein: Ubiquinone oxidoreductases

(2010) Nicholas J. Watmough et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

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

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

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

Oligomeric State in the Crystal Structure of Modular FAD Synthetase Provides Insights into Its Sequential Catalysis in Prokaryotes

(2010) Beatriz Herguedas et al.   JOURNAL OF MOLECULAR BIOLOGY

Identification and Comparative Functional Characterization of a New Human Riboflavin Transporter hRFT3 Expressed in the Brain

(2010) Yoshiaki Yao et al.   JOURNAL OF NUTRITION

Functional Characteristics of the Human Ortholog of Riboflavin Transporter 2 and Riboflavin-Responsive Expression of Its Rat Ortholog in the Small Intestine Indicate Its Involvement in Riboflavin Absorption

(2010) Misaki Fujimura et al.   JOURNAL OF NUTRITION

Mitochondrial localization of human FAD synthetase isoform 1

(2010) Enza Maria Torchetti et al.   MITOCHONDRION

Specification and Morphogenesis of Astrocytes

(2010) M. R. Freeman   SCIENCE

What’s in a covalent bond?

(2009) Dominic P. H. M. Heuts et al.   FEBS Journal

Identification and Functional Characterization of Rat Riboflavin Transporter 2

(2009) S. Yamamoto et al.   JOURNAL OF BIOCHEMISTRY

Specific electron transport chain abnormalities in amyotrophic lateral sclerosis

(2009) Jerry Lin et al.   JOURNAL OF NEUROLOGY

Characterizing the transcriptional regulation of let-721, a Caenorhabditis elegans homolog of human electron flavoprotein dehydrogenase

(2009) Derek S. Chew et al.   MOLECULAR GENETICS AND GENOMICS

Riboflavin kinase couples TNF receptor 1 to NADPH oxidase

(2009) Benjamin Yazdanpanah et al.   NATURE

Mechanisms Underlying Metabolic and Neural Defects in Zebrafish and Human Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)

(2009) Yuanquan Song et al.   PLoS One

SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

(2009) H.-X. Hao et al.   SCIENCE

Physiological and pharmacological roles of ABCG2 (BCRP): Recent findings in Abcg2 knockout mice

(2008) Maria L.H. Vlaming et al.   ADVANCED DRUG DELIVERY REVIEWS

Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1

(2008) Atsushi Yonezawa et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Structural analysis of FAD synthetase from Corynebacterium ammoniagenes

(2008) Susana Frago et al.   BMC MICROBIOLOGY

The occurrence of riboflavin kinase and FAD synthetase ensures FAD synthesis in tobacco mitochondria and maintenance of cellular redox status

(2008) Teresa A. Giancaspero et al.   FEBS Journal

Succinate dehydrogenase flavoprotein subunit expression in Saccharomyces cerevisiae- involvement of the mitochondrial FAD transporter, Flx1p

(2008) Teresa A. Giancaspero 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

Mitochondrial fatty acid oxidation defects—remaining challenges

(2008) Niels Gregersen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial Fatty-Acid Oxidation Disorders

(2008) Michelle Kompare et al.   Seminars in Pediatric Neurology