Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2
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Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient miceNovel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia EncephalopathyMembrane targeting and intracellular trafficking of the human sodium-dependent multivitamin transporter in polarized epithelial cells.Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new casesIntestinal absorption of water-soluble vitamins in health and diseaseA wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors.Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathyChronic alcohol exposure negatively impacts the physiological and molecular parameters of the renal biotin reabsorption process.Association of TM4SF4 with the human thiamine transporter-2 in intestinal epithelial cellsThiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathwayCDKN2B, SLC19A3 and DLEC1 promoter methylation alterations in the bone marrow of patients with acute myeloid leukemia during chemotherapyTreatable Leigh-like encephalopathy presenting in adolescence.Defects of thiamine transport and metabolism.Pharmacokinetics and pharmacodynamics of MD1003 (high-dose biotin) in the treatment of progressive multiple sclerosis.The blood-brain barrier fatty acid transport protein 1 (FATP1/SLC27A1) supplies docosahexaenoic acid to the brain, and insulin facilitates transport.Major involvement of Na(+) -dependent multivitamin transporter (SLC5A6/SMVT) in uptake of biotin and pantothenic acid by human brain capillary endothelial cells.Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.Biotin: From Nutrition to Therapeutics.Selective accumulation of biotin in arterial chemoreceptors: requirement for carotid body exocytotic dopamine secretion.Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome.Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Complex dietary protein improves growth through a complex mechanism of intestinal peptide absorption and protein digestion.Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.SLC19A2/3 transport extracellular THMN to cytosolBiotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
P2860
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P2860
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2
description
2006 nî lūn-bûn
@nan
2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Biotin-responsive basal gangli ...... is not a substrate for hTHTR2
@ast
Biotin-responsive basal gangli ...... is not a substrate for hTHTR2
@en
Biotin-responsive basal gangli ...... is not a substrate for hTHTR2
@nl
type
label
Biotin-responsive basal gangli ...... is not a substrate for hTHTR2
@ast
Biotin-responsive basal gangli ...... is not a substrate for hTHTR2
@en
Biotin-responsive basal gangli ...... is not a substrate for hTHTR2
@nl
prefLabel
Biotin-responsive basal gangli ...... is not a substrate for hTHTR2
@ast
Biotin-responsive basal gangli ...... is not a substrate for hTHTR2
@en
Biotin-responsive basal gangli ...... is not a substrate for hTHTR2
@nl
P2860
P1476
Biotin-responsive basal gangli ...... is not a substrate for hTHTR2
@en
P2093
Hamid M Said
Veedamali S Subramanian
P2860
P304
P356
10.1152/AJPCELL.00105.2006
P407
P577
2006-06-21T00:00:00Z