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

Disorders of riboflavin metabolism

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

Fazio-Londe syndrome in siblings from India with different phenotypes

(2018) Vykuntaraju K. Gowda et al.   BRAIN & DEVELOPMENT

SLC52A2 mutations cause SCABD2 phenotype: A second report

(2018) Mojgan Babanejad et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss

(2018) Kallol K. Set et al.   NEUROLOGY

Dramatic improvement of a rare syndrome with high dose riboflavin treatment

(2018) Eva B Forman et al.   PEDIATRIC NEUROLOGY

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

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

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

(2018) Ian R. Woodcock et al.   Seminars in Pediatric Neurology

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

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

Case report of patients with Fazio-Londe syndrome

(2017) M.V. Kurkina et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

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

Reversible posterior column dysfunction in Brown-Vialetto-Von Laere syndrome

(2017) Satish V. Khadilkar et al.   MUSCLE & NERVE

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

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

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

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter

(2016) Manoj P. Menezes et al.   CLINICAL NEUROPHYSIOLOGY

Mitochondrial Dysfunction and Biogenesis in Neurodegenerative diseases: Pathogenesis and Treatment

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

Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency

(2016) Manoj P Menezes et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin

(2016) Ozden O. Horoz et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Riboflavin transporter deficiency diagnosed 30 years after onset of symptoms

(2016) A. van der Kooi et al.   NEUROMUSCULAR DISORDERS

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

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

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

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)

(2015) Claire Guissart et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Brown-Vialetto-Van Laere syndrome: a 28-year follow-up

(2015) A Davis et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology

(2015) Veedamali S Subramanian et al.   Nutrition & Metabolism

Modeling ALS with iPSCs Reveals that Mutant SOD1 Misregulates Neurofilament Balance in Motor Neurons

(2014) Hong Chen et al.   Cell Stem Cell

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood

(2014) Myriam Srour et al.   MUSCLE & NERVE

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

A novel compound heterozygous mutation ofC20orf54gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family

(2013) M. Bandettini di Poggio et al.   EUROPEAN JOURNAL OF NEUROLOGY

Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features

(2013) Carlotta Spagnoli et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Brown-Vialetto-Van Laere syndrome: Clinical and neuroradiological findings of a genetically proven patient

(2013) Monica Bandettini Di Poggio et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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

(2012) Janel O. Johnson et al.   BRAIN

Four novel C20orf54 mutations identified in Brown–Vialetto–Van Laere syndrome patients

(2012) Mitra Ansari Dezfouli et al.   JOURNAL OF HUMAN 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

Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ10)

(2012) Rita Horvath   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

Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2)

(2012) Svetlana M. Nabokina et al.   MOLECULAR GENETICS AND METABOLISM

Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study

(2012) Marianna Ciccolella et al.   NEUROMUSCULAR DISORDERS

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

Brown-Vialetto-Van Laere Syndrome: A Riboflavin-Unresponsive Patient With a Novel Mutation in the C20orf54 Gene

(2012) Anne Koy et al.   PEDIATRIC NEUROLOGY

Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome

(2011) GEETHA ANAND et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

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

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

(2010) Yoshiaki Yao et al.   JOURNAL OF NUTRITION

Identification and Functional Characterization of Rat Riboflavin Transporter 2

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

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

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