Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2)
- 30 April 2012
- journal article
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 105 (4), 652-657
- https://doi.org/10.1016/j.ymgme.2011.12.021
Abstract
No abstract availableKeywords
This publication has 21 references indexed in Scilit:
- Differential expression of human riboflavin transporters -1, -2, and -3 in polarized epithelia: A key role for hRFT-2 in intestinal riboflavin uptakeBiochimica et Biophysica Acta (BBA) - Biomembranes, 2011
- Thiamin uptake by pancreatic acinar cells: effect of chronic alcohol feeding/exposureAmerican Journal of Physiology-Gastrointestinal and Liver Physiology, 2011
- Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cellsAmerican Journal of Physiology-Gastrointestinal and Liver Physiology, 2011
- Association of PDZ-containing protein PDZD11 with the human sodium-dependent multivitamin transporterAmerican Journal of Physiology-Gastrointestinal and Liver Physiology, 2011
- 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 treatmentJournal of Inherited Metabolic Disease, 2010
- Exome Sequencing in Brown-Vialetto-Van Laere SyndromeAmerican Journal of Human Genetics, 2010
- Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54American Journal of Human Genetics, 2010
- Brown-Vialetto-Van Laere syndromeOrphanet Journal of Rare Diseases, 2008
- Developmental maturation of intestinal and renal thiamin uptake: Studies in wild‐type and transgenic mice carrying human THTR‐1 and 2 promotersJournal of Cellular Physiology, 2005
- Brown–Vialetto–Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe diseaseBrain & Development, 2005