Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder - Wikidata - awgldk - TriplyDB

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

http://www.wikidata.org/entity/Q28275108

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Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia Identification and functional characterization of a novel low affinity aromatic-preferring amino acid transporter (arpAT). One of the few proteins silenced during primate evolution Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism ACE2 links amino acid malnutrition to microbial ecology and intestinal inflammation NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood Organization of the pronephric kidney revealed by large-scale gene expression mapping.Amino acids regulate transgene expression in MDCK cells.Fainting Fanconi syndrome clarified by proxy: a case report Proximal tubule function and response to acidosis.Pellagra: a review with emphasis on photosensitivity.The hexosamine biosynthetic pathway couples growth factor-induced glutamine uptake to glucose metabolism.Neutral amino acid transport mediated by ortholog of imino acid transporter SIT1/SLC6A20 in opossum kidney cells.Persistence of the common Hartnup disease D173N allele in populations of European origin.SLC6 transporters: structure, function, regulation, disease association and therapeutics Regulation of renal amino acid transporters during metabolic acidosis.Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in mice.Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse.Mice lacking neutral amino acid transporter B(0)AT1 (Slc6a19) have elevated levels of FGF21 and GLP-1 and improved glycaemic control.Molecular basis for the interaction of the mammalian amino acid transporters B0AT1 and B0AT3 with their ancillary protein collectrin Myosin 1b Regulates Amino Acid Transport by Associating Transporters with the Apical Plasma Membrane of Kidney Cells.Mammalian kidney development: principles, progress, and projections Molecular basis of essential amino acid transport from studies of insect nutrient amino acid transporters of the SLC6 family (NAT-SLC6)The solute carrier 6 family of transporters Apical transporters for neutral amino acids: physiology and pathophysiology.Systematic review of autosomal recessive ataxias and proposal for a classification.Genetic testing in renal disease.Transport of amino acids in the kidney.Next-generation sequencing applied to rare diseases genomics.Membrane transporters for the special amino acid glutamine: structure/function relationships and relevance to human health.Glutamine transporters in mammalian cells and their functions in physiology and cancer.Mammalian colonocytes possess a carrier-mediated mechanism for uptake of vitamin B3 (niacin): studies utilizing human and mouse colonic preparations Ataxia in children: early recognition and clinical evaluation.Amino acid transporter B(0)AT1 (slc6a19) and ancillary protein: impact on function.Expression and regulation of the neutral amino acid transporter B0AT1 in rat small intestine.A cytosolic relay of heat shock proteins HSP70-1A and HSP90β monitors the folding trajectory of the serotonin transporter.Characterization of mouse amino acid transporter B0AT1 (slc6a19).

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

http://www.wikidata.org/entity/Q28275108

description

2004 nî lūn-bûn

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2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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Nature Genetics

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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Akio Koizumi

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Amanda Helip-Wooley

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Arthit Chairoungdua

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Caroline Stuart

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Carsten A Wagner

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Detlef Bockenhauer

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Elisa Romeo

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Ellappan Babu

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Gepke Visser

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Isa Bernardini

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P2860

CATs and HATs: the SLC7 family of amino acid transporters

Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder

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999-1002

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scholarly article

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10.1038/NG1405

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9

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36

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Mauricio Arcos-Burgos

Francois Verrey

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2004-08-01T00:00:00Z

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8422880

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15286787

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