Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters
about
SLC36A4 (hPAT4) is a high affinity amino acid transporter when expressed in Xenopus laevis oocytesLoss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduriaDefining the blanks--pharmacochaperoning of SLC6 transporters and ABC transportersAmino acid derivatives are substrates or non-transported inhibitors of the amino acid transporter PAT2 (slc36a2)Evolutionary signatures amongst disease genes permit novel methods for gene prioritization and construction of informative gene-based networksThe Concise Guide to PHARMACOLOGY 2013/14: transporters.Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) studyA genome-wide association study of metabolic traits in human urine.A genome-wide association study identifies potential susceptibility loci for Hirschsprung diseaseLocalising loci underlying complex trait variation using Regional Genomic Relationship Mapping.Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20).Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse.The SLC36 family of proton-coupled amino acid transporters and their potential role in drug transportMolecular basis for the interaction of the mammalian amino acid transporters B0AT1 and B0AT3 with their ancillary protein collectrinGenome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality.The solute carrier 6 family of transportersDigenic inheritance in medical geneticsWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Mutation of asparagine 76 in the center of glutamine transporter SNAT3 modulates substrate-induced conductances and Na+ binding.Intracellular amino acid sensing and mTORC1-regulated growth: new ways to block an old target?Transport of amino acids in the kidney.Transport of L-proline by the proton-coupled amino acid transporter PAT2 in differentiated 3T3-L1 cells.Identification of a disulfide bridge essential for transport function of the human proton-coupled amino acid transporter hPAT1.Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria.Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuriaDefective SLC6A19 causes Hartnup disorder (HND)Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma.SLC6 Transporter Folding Diseases and Pharmacochaperoning.Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors.Up-regulation of amino acid transporter SLC6A19 activity and surface protein abundance by PKB/Akt and PIKfyve.Resculpting the binding pocket of APC superfamily LeuT-fold amino acid transporters.Defective SLC36A2 does not cotransport Gly; L-Pro with H+ from extracellular region to cytosolDefective SLC6A18 does not transport Gly from extracellular region to cytosolVariant SLC6A20 does not cotransport L-Pro; Na+ from extracellulare region to cytosolGenome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria_R-HSA-5619102Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_R-HSA-5619102
P2860
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P2860
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters
description
2008 nî lūn-bûn
@nan
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Iminoglycinuria and hyperglyci ...... oline and glycine transporters
@ast
Iminoglycinuria and hyperglyci ...... oline and glycine transporters
@en
Iminoglycinuria and hyperglyci ...... oline and glycine transporters
@en-gb
Iminoglycinuria and hyperglyci ...... oline and glycine transporters
@nl
type
label
Iminoglycinuria and hyperglyci ...... oline and glycine transporters
@ast
Iminoglycinuria and hyperglyci ...... oline and glycine transporters
@en
Iminoglycinuria and hyperglyci ...... oline and glycine transporters
@en-gb
Iminoglycinuria and hyperglyci ...... oline and glycine transporters
@nl
prefLabel
Iminoglycinuria and hyperglyci ...... oline and glycine transporters
@ast
Iminoglycinuria and hyperglyci ...... oline and glycine transporters
@en
Iminoglycinuria and hyperglyci ...... oline and glycine transporters
@en-gb
Iminoglycinuria and hyperglyci ...... oline and glycine transporters
@nl
P2093
P2860
P921
P356
P1476
Iminoglycinuria and hyperglyci ...... oline and glycine transporters
@en
P2093
Angelika Bröer
Christiane Auray-Blais
Cynthia Ng
Helen Rodgers
Jessica M Vanslambrouck
John E J Rasko
Juleen A Cavanaugh
Sonja Kowalczuk
Stefan Bröer
P2860
P304
P356
10.1172/JCI36625
P407
P577
2008-11-06T00:00:00Z