Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
about
The evolution and treatment of Korsakoff's syndrome: out of sight, out of mind?Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2Targeting and trafficking of the human thiamine transporter-2 in epithelial cellsImpaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient miceNovel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia EncephalopathyBiotin-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 casesThiamine transporter-2 deficiency: outcome and treatment monitoringBilateral symmetrical basal ganglia and thalamic lesions in children: an update (2015).Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.Intestinal absorption of water-soluble vitamins in health and diseaseA wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata.Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors.New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathyThiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathwayTreatable Leigh-like encephalopathy presenting in adolescence.Biochemical and genetic analysis of Leigh syndrome patients in Korea.A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?Molecular genetics of alcohol-related brain damage.Profiling solute carrier transporters in the human blood-brain barrier.Evidence for genetic susceptibility to the alcohol dependence syndrome from the thiamine transporter 2 gene solute carrier SLC19A3.Defects of thiamine transport and metabolism.The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.Leigh syndrome: One disorder, more than 75 monogenic causes.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.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Treatment of genetic defects of thiamine transport and metabolism.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.Disruption of thiamine uptake and growth of cells by feline leukemia virus subgroup A.Biotin: From Nutrition to Therapeutics.Selective accumulation of biotin in arterial chemoreceptors: requirement for carotid body exocytotic dopamine secretion.Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling.Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
P2860
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P2860
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
description
2005 nî lūn-bûn
@nan
2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
name
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
@ast
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
@en
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
@nl
type
label
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
@ast
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
@en
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
@nl
prefLabel
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
@ast
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
@en
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
@nl
P2093
P2860
P50
P3181
P356
P1476
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
@en
P2093
Eiman Al-Yamani
James S Acierno
Pinar T Ozand
Susan Slaugenhaupt
Wen-Qi Zeng
P2860
P3181
P356
10.1086/431216
P407
P577
2005-07-01T00:00:00Z