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Disease on EC 7.6.2.15 - ABC-type thiamine transporter

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenocarcinoma
Interaction of 2,4-Diaminopyrimidine-Containing Drugs Including Fedratinib and Trimethoprim with Thiamine Transporters.
Anemia
Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.
The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.
Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent.
Thiamine transporter mutation: an example of monogenic diabetes mellitus.
Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings.
Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families.
Thiamine-responsive megaloblastic anemia syndrome.
Anemia, Megaloblastic
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.
Cloning of the human thiamine transporter, a member of the folate transporter family.
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts.
Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.
First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.
Leber's Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report.
Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2.
Mitochondria from cultured cells derived from normal and thiamine-responsive megaloblastic anemia individuals efficiently import thiamine diphosphate.
Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.
Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent.
Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings.
Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families.
Thiamine-responsive megaloblastic anemia syndrome.
Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.
Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.
[Hematologic manifestations of inborn errors of metabolism]
Basal Ganglia Diseases
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease.
Stress-Induced Upregulation of SLC19A3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease.
Beriberi
Analysis of thiamine transporter genes in sporadic beriberi.
Brain Diseases
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.
Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 (SLC19A3) Gene Associated with Alaskan Husky Encephalopathy.
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.
Breast Neoplasms
Down-regulation of thiamine transporter THTR2 gene expression in breast cancer and its association with resistance to apoptosis.
Hypoxia induced upregulation and function of the thiamine transporter, SLC19A3 in a breast cancer cell line.
Low-thiamine diet increases mammary tumor latency in FVB/N-Tg(MMTVneu) mice.
Sensitivity of breast cancer cell lines to recombinant thiaminase I.
Specific association of thiamine-coated gadolinium nanoparticles with human breast cancer cells expressing thiamine transporters.
Thiamine transporter gene expression and exogenous thiamine modulate the expression of genes involved in drug and prostaglandin metabolism in breast cancer cells.
Deafness
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.
Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2.
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.
Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent.
Thiamine transporter mutation: an example of monogenic diabetes mellitus.
Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings.
Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families.
Thiamine-responsive megaloblastic anemia syndrome.
Diabetes Mellitus
Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in pima indians.
First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.
Thiamine Prevents Obesity and Obesity-Associated Metabolic Disorders in OLETF Rats.
Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent.
Thiamine transporter mutation: an example of monogenic diabetes mellitus.
Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings.
Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families.
Thiamine-responsive megaloblastic anemia syndrome.
Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.
Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.
Diabetes Mellitus, Type 1
Thiamine transporter 2 is involved in high glucose-induced damage and altered thiamine availability in cell models of diabetic retinopathy.
Diabetes Mellitus, Type 2
Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in pima indians.
Thiamine Prevents Obesity and Obesity-Associated Metabolic Disorders in OLETF Rats.
Diabetic Retinopathy
Thiamine transporter 2 is involved in high glucose-induced damage and altered thiamine availability in cell models of diabetic retinopathy.
Dystonia
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.
Genetic Diseases, Inborn
The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
Hearing Loss, Sensorineural
Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.
Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.
Homocystinuria
[Hematologic manifestations of inborn errors of metabolism]
Hyperglycemia
Reduced Thiamine Availability and Hyperglycemia Impair Thiamine Transport in Renal Glomerular Cells through Modulation of Thiamine Transporter 2.
Hypertension
Association of a SNP in SLC35F3 Gene with the Risk of Hypertension in a Chinese Han Population.
Genetic implication of a novel thiamine transporter in human hypertension.
Infections
Reduced Folate Carrier: an Entry Receptor for a Novel Feline Leukemia Virus Variant.
Infertility, Male
Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2.
Korsakoff Syndrome
Direct genomic PCR sequencing of the high affinity thiamine transporter (SLC19A2) gene identifies three genetic variants in Wernicke Korsakoff syndrome (WKS).
Leigh Disease
Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata.
Leukemia
Dietary thiamine influences l-asparaginase sensitivity in a subset of leukemia cells.
Microcephaly
Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata.
Neoplasms
Down-regulation of thiamine transporter THTR2 gene expression in breast cancer and its association with resistance to apoptosis.
Functional and mechanistic roles of the human proton-coupled folate transporter transmembrane domain 6-7 linker.
Thiamine transporter gene expression and exogenous thiamine modulate the expression of genes involved in drug and prostaglandin metabolism in breast cancer cells.
Nervous System Diseases
Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata.
Neurodegenerative Diseases
High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.
Obesity
Low-thiamine diet increases mammary tumor latency in FVB/N-Tg(MMTVneu) mice.
Starvation
Sensitivity of breast cancer cell lines to recombinant thiaminase I.
Thiamine Deficiency
Drug-nutrient interactions: discovering prescription drug inhibitors of the thiamine transporter ThTR-2 (SLC19A3).
HIF1-?-mediated gene expression induced by vitamin B1 deficiency.
Wernicke Encephalopathy
Stress-Induced Upregulation of SLC19A3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease.