A missense mutation in the OCTN2 gene associated with residual carnitine transport activity
about
Disorders of carnitine transport and the carnitine cycleFunctional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiencySequencing and comparative genomic analysis of 1227 Felis catus cDNA sequences enriched for developmental, clinical and nutritional phenotypes.Xenobiotic, bile acid, and cholesterol transporters: function and regulation.Metabolic cardiomyopathies.Carnitine deficiency in OCTN2-/- newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory responseGlycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiencyRole of carnitine in diseaseGenotype-phenotype correlation in primary carnitine deficiencyDelineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.Transport of butyryl-L-carnitine, a potential prodrug, via the carnitine transporter OCTN2 and the amino acid transporter ATB(0,+)Cardiomyopathy and carnitine deficiencyEnzymes involved in L-carnitine biosynthesis are expressed by small intestinal enterocytes in mice: implications for gut health.Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect.Carnitine transport and fatty acid oxidation.Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.Phenotype and genotype variation in primary carnitine deficiency.Identification and tissue distribution of two differentially spliced variants of the rat carnitine transporter OCTN2.Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter.Functional and molecular studies in primary carnitine deficiency.Identification of cysteines in rat organic cation transporters rOCT1 (C322, C451) and rOCT2 (C451) critical for transport activity and substrate affinity.Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
P2860
Q24658342-2DE2419E-0E3E-4D73-ABAA-FDCA830178D7Q28204696-E6D01882-52F3-4CDF-A438-ECF2D95960D6Q30505291-FCEA3C13-BF3B-4FFA-99AD-DC61B2602D6CQ33714593-74EEB807-9A99-4A09-B14A-9349FCD6D333Q34216280-E9AA5C8F-B59D-44FA-97B4-135ECD2503C8Q34462269-60CDFDF4-B928-4C2B-99BD-E32DDB9F1B6BQ34516657-842CBAD8-21EB-4A75-B410-9699574E23D8Q34618777-080D5280-35F0-4D68-97BB-5BC3E07437CFQ35618853-A5807632-A4F3-48B6-98F8-6DFD055C97B6Q35625960-80970876-CC00-44CA-83BD-75F4E5073DFDQ36640736-E41CB212-63AE-447F-912F-C887932A8FCBQ36725320-A9D4A3EE-833C-46D3-957D-EDC1D3F461FBQ40393464-878CB5DF-6315-48BF-BCE8-2DC5169DAF82Q40812595-862E0867-CA8C-41D2-A74F-E8197AFDE168Q41633875-FA3CA00D-E32E-4327-8BDF-72F4FA998D9CQ41779087-5D5F40AA-5687-4136-BACB-1E7BB7145518Q43803903-A42310D4-16E6-4FFB-9229-BBFE637A5A0CQ43806027-BC403101-2BDF-4DD4-A78E-7563DFACE263Q44124701-9E4AC842-2601-466F-A83D-F79F996B3EE0Q44686498-558F9EDB-C486-4860-B796-24257D1E841BQ47713614-B205E5E9-AF95-4ECB-AFB1-642F7B3199DAQ48789616-E187E7F4-2533-4A26-8D81-52F682090C06Q50335655-4DB36C40-8988-4FE4-A202-2B24DBC61B89
P2860
A missense mutation in the OCTN2 gene associated with residual carnitine transport activity
description
2000 nî lūn-bûn
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2000 թուականին հրատարակուած գիտական յօդուած
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2000 թվականին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
A missense mutation in the OCT ...... l carnitine transport activity
@ast
A missense mutation in the OCT ...... l carnitine transport activity
@en
A missense mutation in the OCT ...... l carnitine transport activity
@nl
type
label
A missense mutation in the OCT ...... l carnitine transport activity
@ast
A missense mutation in the OCT ...... l carnitine transport activity
@en
A missense mutation in the OCT ...... l carnitine transport activity
@nl
prefLabel
A missense mutation in the OCT ...... l carnitine transport activity
@ast
A missense mutation in the OCT ...... l carnitine transport activity
@en
A missense mutation in the OCT ...... l carnitine transport activity
@nl
P2093
P2860
P1433
P1476
A missense mutation in the OCT ...... l carnitine transport activity
@en
P2093
P2860
P304
P356
10.1002/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3
P407
P577
2000-01-01T00:00:00Z