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

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

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

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

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 Syndrome: A Riboflavin-Unresponsive Patient With a Novel Mutation in the C20orf54 Gene

(2012) Anne Koy et al.   PEDIATRIC NEUROLOGY

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

(2012) Shinjiro Hino et al.   Nature Communications

Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells

(2011) Veedamali S. Subramanian et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

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

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

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

The ground state of embryonic stem cell self-renewal

(2008) Qi-Long Ying et al.   NATURE

Brown-Vialetto-Van Laere syndrome

(2008) Sivakumar Sathasivam   Orphanet Journal of Rare Diseases