Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality
about
Disorders of carnitine transport and the carnitine cycleA missense mutation in the OCTN2 gene associated with residual carnitine transport activityExpression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cellsDevelopment and characterization of an animal model of carnitine deficiencyMolecular and functional characterization of organic cation/carnitine transporter family in micebeta-lactam antibiotics as substrates for OCTN2, an organic cation/carnitine transporterRole of plasma membrane transporters in muscle metabolism.Metabolic cardiomyopathies.Cytokine regulation of OCTN2 expression and activity in small and large intestineCarnitine biosynthesis in mammals.Role of carnitine in diseasePrimary carnitine deficiency: novel mutations and insights into the cardiac phenotype.Characterization of single-nucleotide polymorphisms relevant to inflammatory bowel disease in commonly used gastrointestinal cell lines.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.Functional and molecular studies in primary carnitine deficiency.Defective SLC22A5 does not cotransport CAR; Na+ from extracellular region to cytosolFunctional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
P2860
Q24658342-A7877F25-4809-4BC3-BDF7-398B802BC8DEQ28145027-607BC25F-1410-4950-BA69-EF5950CF4328Q28189745-FD2DA3F1-D651-40E8-8D07-254048FFFC74Q28204749-505A8780-9AF7-465A-A423-9946027DF5BEQ28511892-6E0AD1A0-6579-4F3A-9FED-5340695A9703Q28584010-00625E59-CFE3-4EEB-9B47-C3DA132DF8C9Q33973728-E4CBBE2A-D5E0-4618-A14E-33F49BAEC737Q34216280-5A3BE818-9793-44D6-B854-78BAB2E3B6F2Q34345020-DF479246-4DA5-44EE-A453-03987F8CEB86Q34501779-69FE1A7C-9099-4AE5-AA29-12A462AE26A4Q34618777-58084FD4-4C98-481D-829F-48D2668A6D5AQ38078974-2C851655-BEC2-4FBC-BAAF-6D6158D08F32Q39816980-000239D4-BD67-4816-93BF-D417545AA4FEQ41633875-8753CF54-A14E-499C-B72D-D4FCA04870E3Q41779087-18BC0D52-FD5F-4474-A4B4-75E8354F9EB1Q43803903-844633EB-67DF-40FC-B16D-EF0ABC505E2AQ43806027-11F0061E-43A0-497C-904B-8B5BC753B252Q44124701-CE6D5690-D103-40CA-8ED9-88AD3104D424Q47713614-A034B33C-E997-4AF6-AF94-ADC1CEE63466Q50289007-70E49CFB-F3C1-42D3-95EB-D2800944C41AQ50335655-B67F4A99-91E4-4B79-A5C3-F0783C571A60
P2860
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality
description
1999 nî lūn-bûn
@nan
1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Carnitine transporter OCTN2 mu ...... ventional splicing abnormality
@ast
Carnitine transporter OCTN2 mu ...... ventional splicing abnormality
@en
Carnitine transporter OCTN2 mu ...... ventional splicing abnormality
@nl
type
label
Carnitine transporter OCTN2 mu ...... ventional splicing abnormality
@ast
Carnitine transporter OCTN2 mu ...... ventional splicing abnormality
@en
Carnitine transporter OCTN2 mu ...... ventional splicing abnormality
@nl
prefLabel
Carnitine transporter OCTN2 mu ...... ventional splicing abnormality
@ast
Carnitine transporter OCTN2 mu ...... ventional splicing abnormality
@en
Carnitine transporter OCTN2 mu ...... ventional splicing abnormality
@nl
P2093
P356
P1476
Carnitine transporter OCTN2 mu ...... ventional splicing abnormality
@en
P2093
B Burwinkel
K D Gerbitz
M W Kilimann
S Schweitzer
P356
10.1006/BBRC.1999.1060
P407
P577
1999-08-02T00:00:00Z