SLC22A5: Difference between revisions

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*{{cite journal | author=Silverberg MS |title=OCTNs: will the real IBD5 gene please stand up? |journal=World J. Gastroenterol. |volume=12 |issue= 23 |pages= 3678–3681 |year= 2006 |pmid= 16773684 |doi= }}
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*{{cite journal |vauthors=Matsuishi T, Hirata K, Terasawa K, etal |title=Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. |journal=Neuropediatrics |volume=16 |issue= 1 |pages= 6–12 |year= 1985 |pmid= 3974805 |doi=10.1055/s-2008-1052536 }}
*{{cite journal | author=Wu X, Prasad PD, Leibach FH, Ganapathy V |title=cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. |journal=Biochem. Biophys. Res. Commun. |volume=246 |issue= 3 |pages= 589–95 |year= 1998 |pmid= 9618255 |doi= 10.1006/bbrc.1998.8669 }}
*{{cite journal | author=Wu X, Prasad PD, Leibach FH, Ganapathy V |title=cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. |journal=Biochem. Biophys. Res. Commun. |volume=246 |issue= 3 |pages= 589–95 |year= 1998 |pmid= 9618255 |doi= 10.1006/bbrc.1998.8669 }}
*{{cite journal | author=Shoji Y, Koizumi A, Kayo T, ''et al.'' |title=Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q. |journal=Am. J. Hum. Genet. |volume=63 |issue= 1 |pages= 101–8 |year= 1998 |pmid= 9634512 |doi=10.1086/301911 | pmc=1377235 }}
*{{cite journal |vauthors=Shoji Y, Koizumi A, Kayo T, etal |title=Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q. |journal=Am. J. Hum. Genet. |volume=63 |issue= 1 |pages= 101–8 |year= 1998 |pmid= 9634512 |doi=10.1086/301911 | pmc=1377235 }}
*{{cite journal | author=Tamai I, Ohashi R, Nezu J, ''et al.'' |title=Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. |journal=J. Biol. Chem. |volume=273 |issue= 32 |pages= 20378–82 |year= 1998 |pmid= 9685390 |doi=10.1074/jbc.273.32.20378 }}
*{{cite journal |vauthors=Tamai I, Ohashi R, Nezu J, etal |title=Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. |journal=J. Biol. Chem. |volume=273 |issue= 32 |pages= 20378–82 |year= 1998 |pmid= 9685390 |doi=10.1074/jbc.273.32.20378 }}
*{{cite journal | author=Nezu J, Tamai I, Oku A, ''et al.'' |title=Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. |journal=Nat. Genet. |volume=21 |issue= 1 |pages= 91–4 |year= 1999 |pmid= 9916797 |doi= 10.1038/5030 }}
*{{cite journal |vauthors=Nezu J, Tamai I, Oku A, etal |title=Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. |journal=Nat. Genet. |volume=21 |issue= 1 |pages= 91–4 |year= 1999 |pmid= 9916797 |doi= 10.1038/5030 }}
*{{cite journal | author=Tang NL, Ganapathy V, Wu X, ''et al.'' |title=Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. |journal=Hum. Mol. Genet. |volume=8 |issue= 4 |pages= 655–60 |year= 1999 |pmid= 10072434 |doi=10.1093/hmg/8.4.655 }}
*{{cite journal |vauthors=Tang NL, Ganapathy V, Wu X, etal |title=Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. |journal=Hum. Mol. Genet. |volume=8 |issue= 4 |pages= 655–60 |year= 1999 |pmid= 10072434 |doi=10.1093/hmg/8.4.655 }}
*{{cite journal | author=Burwinkel B, Kreuder J, Schweitzer S, ''et al.'' |title=Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. |journal=Biochem. Biophys. Res. Commun. |volume=261 |issue= 2 |pages= 484–7 |year= 1999 |pmid= 10425211 |doi= 10.1006/bbrc.1999.1060 }}
*{{cite journal |vauthors=Burwinkel B, Kreuder J, Schweitzer S, etal |title=Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. |journal=Biochem. Biophys. Res. Commun. |volume=261 |issue= 2 |pages= 484–7 |year= 1999 |pmid= 10425211 |doi= 10.1006/bbrc.1999.1060 }}
*{{cite journal | author=Wu X, Huang W, Prasad PD, ''et al.'' |title=Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. |journal=J. Pharmacol. Exp. Ther. |volume=290 |issue= 3 |pages= 1482–1492 |year= 1999 |pmid= 10454528 |doi= }}
*{{cite journal |vauthors=Wu X, Huang W, Prasad PD, etal |title=Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. |journal=J. Pharmacol. Exp. Ther. |volume=290 |issue= 3 |pages= 1482–1492 |year= 1999 |pmid= 10454528 |doi= }}
*{{cite journal | author=Vaz FM, Scholte HR, Ruiter J, ''et al.'' |title=Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. |journal=Hum. Genet. |volume=105 |issue= 1–2 |pages= 157–61 |year= 1999 |pmid= 10480371 |doi=10.1007/s004390051079 }}
*{{cite journal |vauthors=Vaz FM, Scholte HR, Ruiter J, etal |title=Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. |journal=Hum. Genet. |volume=105 |issue= 1–2 |pages= 157–61 |year= 1999 |pmid= 10480371 |doi=10.1007/s004390051079 }}
*{{cite journal | author=Koizumi A, Nozaki J, Ohura T, ''et al.'' |title=Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency |journal=Hum. Mol. Genet. |volume=8 |issue= 12 |pages= 2247–2254 |year= 1999 |pmid= 10545605 |doi=10.1093/hmg/8.12.2247 }}
*{{cite journal |vauthors=Koizumi A, Nozaki J, Ohura T, etal |title=Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency |journal=Hum. Mol. Genet. |volume=8 |issue= 12 |pages= 2247–2254 |year= 1999 |pmid= 10545605 |doi=10.1093/hmg/8.12.2247 }}
*{{cite journal | author=Seth P, Wu X, Huang W, ''et al.'' |title=Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function |journal=J. Biol. Chem. |volume=274 |issue= 47 |pages= 33388–92 |year= 1999 |pmid= 10559218 |doi=10.1074/jbc.274.47.33388 }}
*{{cite journal |vauthors=Seth P, Wu X, Huang W, etal |title=Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function |journal=J. Biol. Chem. |volume=274 |issue= 47 |pages= 33388–92 |year= 1999 |pmid= 10559218 |doi=10.1074/jbc.274.47.33388 }}
*{{cite journal | author=Mayatepek E, Nezu J, Tamai I, ''et al.'' |title=Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency |journal=Hum. Mutat. |volume=15 |issue= 1 |pages= 118 |year= 2000 |pmid= 10612840 |doi= 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8 }}
*{{cite journal |vauthors=Mayatepek E, Nezu J, Tamai I, etal |title=Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency |journal=Hum. Mutat. |volume=15 |issue= 1 |pages= 118 |year= 2000 |pmid= 10612840 |doi= 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8 }}
*{{cite journal | author=Wang Y, Kelly MA, Cowan TM, Longo N |title=A missense mutation in the OCTN2 gene associated with residual carnitine transport activity |journal=Hum. Mutat. |volume=15 |issue= 3 |pages= 238–45 |year= 2000 |pmid= 10679939 |doi= 10.1002/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3 }}
*{{cite journal | author=Wang Y, Kelly MA, Cowan TM, Longo N |title=A missense mutation in the OCTN2 gene associated with residual carnitine transport activity |journal=Hum. Mutat. |volume=15 |issue= 3 |pages= 238–45 |year= 2000 |pmid= 10679939 |doi= 10.1002/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3 }}
*{{cite journal | author=Ohashi R, Tamai I, Inano A, ''et al.'' |title=Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein |journal=J. Pharmacol. Exp. Ther. |volume=302 |issue= 3 |pages= 1286–1294 |year= 2002 |pmid= 12183691 |doi= 10.1124/jpet.102.036004 }}
*{{cite journal |vauthors=Ohashi R, Tamai I, Inano A, etal |title=Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein |journal=J. Pharmacol. Exp. Ther. |volume=302 |issue= 3 |pages= 1286–1294 |year= 2002 |pmid= 12183691 |doi= 10.1124/jpet.102.036004 }}
*{{cite journal | author=Rahbeeni Z, Vaz FM, Al-Hussein K, ''et al.'' |title=Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency |journal=J. Inherit. Metab. Dis. |volume=25 |issue= 5 |pages= 363–9 |year= 2003 |pmid= 12408185 |doi=10.1023/A:1020143632011 }}
*{{cite journal |vauthors=Rahbeeni Z, Vaz FM, Al-Hussein K, etal |title=Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency |journal=J. Inherit. Metab. Dis. |volume=25 |issue= 5 |pages= 363–9 |year= 2003 |pmid= 12408185 |doi=10.1023/A:1020143632011 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Elimrani I, Lahjouji K, Seidman E, ''et al.'' |title=Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells |journal=Am. J. Physiol. Gastrointest. Liver Physiol. |volume=284 |issue= 5 |pages= G863–71 |year= 2003 |pmid= 12684216 |doi= 10.1152/ajpgi.00220.2002 }}
*{{cite journal |vauthors=Elimrani I, Lahjouji K, Seidman E, etal |title=Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells |journal=Am. J. Physiol. Gastrointest. Liver Physiol. |volume=284 |issue= 5 |pages= G863–71 |year= 2003 |pmid= 12684216 |doi= 10.1152/ajpgi.00220.2002 }}
*{{cite journal | author=Karlic H, Lohninger A, Laschan C, ''et al.'' |title=Downregulation of carnitine acyltransferases and organic cation transporter OCTN2 in mononuclear cells in healthy elderly and patients with myelodysplastic syndromes |journal=J. Mol. Med. |volume=81 |issue= 7 |pages= 435–42 |year= 2004 |pmid= 12802501 |doi= 10.1007/s00109-003-0447-6 }}
*{{cite journal |vauthors=Karlic H, Lohninger A, Laschan C, etal |title=Downregulation of carnitine acyltransferases and organic cation transporter OCTN2 in mononuclear cells in healthy elderly and patients with myelodysplastic syndromes |journal=J. Mol. Med. |volume=81 |issue= 7 |pages= 435–42 |year= 2004 |pmid= 12802501 |doi= 10.1007/s00109-003-0447-6 }}
*{{cite journal | author=Amat di San Filippo C, Wang Y, Longo N |title=Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency |journal=J. Biol. Chem. |volume=278 |issue= 48 |pages= 47776–84 |year= 2004 |pmid= 14506273 |doi= 10.1074/jbc.M307911200 }}
*{{cite journal | author=Amat di San Filippo C, Wang Y, Longo N |title=Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency |journal=J. Biol. Chem. |volume=278 |issue= 48 |pages= 47776–84 |year= 2004 |pmid= 14506273 |doi= 10.1074/jbc.M307911200 }}
}}
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Revision as of 03:23, 2 September 2015

Template:PBB SLC22A5 is a membrane transport protein associated with primary carnitine deficiency.

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