These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

207 related articles for article (PubMed ID: 10480371)

  • 21. Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2.
    Tamai I; Ohashi R; Nezu J; Yabuuchi H; Oku A; Shimane M; Sai Y; Tsuji A
    J Biol Chem; 1998 Aug; 273(32):20378-82. PubMed ID: 9685390
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
    Makhseed N; Vallance HD; Potter M; Waters PJ; Wong LT; Lillquist Y; Pasquali M; Amat di San Filippo C; Longo N
    J Inherit Metab Dis; 2004; 27(6):778-80. PubMed ID: 15617188
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter.
    Amat di San Filippo C; Longo N
    J Biol Chem; 2004 Feb; 279(8):7247-53. PubMed ID: 14665638
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
    Li FY; El-Hattab AW; Bawle EV; Boles RG; Schmitt ES; Scaglia F; Wong LJ
    Hum Mutat; 2010 Aug; 31(8):E1632-51. PubMed ID: 20574985
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Molecular and physiological evidence for multifunctionality of carnitine/organic cation transporter OCTN2.
    Ohashi R; Tamai I; Nezu Ji J; Nikaido H; Hashimoto N; Oku A; Sai Y; Shimane M; Tsuji A
    Mol Pharmacol; 2001 Feb; 59(2):358-66. PubMed ID: 11160873
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.
    Verbeeten KC; Lamhonwah AM; Bulman D; Faghfoury H; Chakraborty P; Tein I; Geraghty MT
    Mol Genet Metab; 2020 Mar; 129(3):213-218. PubMed ID: 31864849
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency.
    Wang Y; Meadows TA; Longo N
    J Biol Chem; 2000 Jul; 275(27):20782-6. PubMed ID: 10783384
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.
    Filippo CA; Ardon O; Longo N
    Biochim Biophys Acta; 2011 Mar; 1812(3):312-20. PubMed ID: 21126579
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Carnitine transport by organic cation transporters and systemic carnitine deficiency.
    Lahjouji K; Mitchell GA; Qureshi IA
    Mol Genet Metab; 2001 Aug; 73(4):287-97. PubMed ID: 11509010
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Na(+)-coupled transport of L-carnitine via high-affinity carnitine transporter OCTN2 and its subcellular localization in kidney.
    Tamai I; China K; Sai Y; Kobayashi D; Nezu J; Kawahara E; Tsuji A
    Biochim Biophys Acta; 2001 Jun; 1512(2):273-84. PubMed ID: 11406104
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
    Koizumi A; Nozaki J; Ohura T; Kayo T; Wada Y; Nezu J; Ohashi R; Tamai I; Shoji Y; Takada G; Kibira S; Matsuishi T; Tsuji A
    Hum Mol Genet; 1999 Nov; 8(12):2247-54. PubMed ID: 10545605
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.
    Tang NL; Hwu WL; Chan RT; Law LK; Fung LM; Zhang WM
    Hum Mutat; 2002 Sep; 20(3):232. PubMed ID: 12204000
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Functional and molecular studies in primary carnitine deficiency.
    Frigeni M; Balakrishnan B; Yin X; Calderon FRO; Mao R; Pasquali M; Longo N
    Hum Mutat; 2017 Dec; 38(12):1684-1699. PubMed ID: 28841266
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene.
    Lamhonwah AM; Tein I
    Biochem Biophys Res Commun; 1998 Nov; 252(2):396-401. PubMed ID: 9826541
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Carnitine transport and fatty acid oxidation.
    Longo N; Frigeni M; Pasquali M
    Biochim Biophys Acta; 2016 Oct; 1863(10):2422-35. PubMed ID: 26828774
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
    Ferdinandusse S; Te Brinke H; Ruiter JPN; Haasjes J; Oostheim W; van Lenthe H; IJlst L; Ebberink MS; Wanders RJA; Vaz FM; Waterham HR
    Hum Mutat; 2019 Oct; 40(10):1899-1904. PubMed ID: 31187905
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.
    Cederbaum SD; Koo-McCoy S; Tein I; Hsu BY; Ganguly A; Vilain E; Dipple K; Cvitanovic-Sojat L; Stanley C
    Mol Genet Metab; 2002 Nov; 77(3):195-201. PubMed ID: 12409266
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21).
    Tamai I
    Biopharm Drug Dispos; 2013 Jan; 34(1):29-44. PubMed ID: 22952014
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.
    Dobrowolski SF; McKinney JT; Amat di San Filippo C; Giak Sim K; Wilcken B; Longo N
    Hum Mutat; 2005 Mar; 25(3):306-13. PubMed ID: 15714519
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Identification and tissue distribution of two differentially spliced variants of the rat carnitine transporter OCTN2.
    Brooks H; Krähenbühl S
    FEBS Lett; 2001 Nov; 508(2):175-80. PubMed ID: 11718711
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.