Literature DB >> 9070950

Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B).

C H Britton1, D W Mackey, V Esser, D W Foster, D K Burns, D P Yarnall, P Froguel, J D McGarry.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9070950     DOI： 10.1006/geno.1996.4539

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


× No keyword cloud information.
  13 in total

Review 1.  Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.

Authors:  Go Tajima; Keiichi Hara; Miori Yuasa
Journal:  J Hum Genet       Date:  2018-12-04       Impact factor: 3.172

2.  A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency.

Authors:  Monique Fontaine; Anne-Frédérique Dessein; Claire Douillard; Dries Dobbelaere; Michèle Brivet; Audrey Boutron; Mokhtar Zater; Karine Mention-Mulliez; Annie Martin-Ponthieu; Christine Vianey-Saban; Gilbert Briand; Nicole Porchet; Joseph Vamecq
Journal:  JIMD Rep       Date:  2012-01-31

3.  Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.

Authors:  M Bellusci; P Quijada-Fraile; D Barrio-Carreras; E Martin-Hernandez; M Garcia-Silva; B Merinero; B Perez; A Hernandez-Lain
Journal:  J Inherit Metab Dis       Date:  2017-05-02       Impact factor: 4.982

4.  Cloning and characterization of the promoter for the liver isoform of the rat carnitine palmitoyltransferase I (L-CPT I) gene.

Authors:  E A Park; M L Steffen; S Song; V M Park; G A Cook
Journal:  Biochem J       Date:  1998-02-15       Impact factor: 3.857

5.  Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

Authors:  J M Stoler; M A Sabry; C Hanley; C L Hoppel; V E Shih
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

6.  Expression of the rat liver carnitine palmitoyltransferase I (CPT-Ialpha) gene is regulated by Sp1 and nuclear factor Y: chromosomal localization and promoter characterization.

Authors:  M L Steffen; W R Harrison; F F Elder; G A Cook; E A Park
Journal:  Biochem J       Date:  1999-06-01       Impact factor: 3.857

Review 7.  Defects in activation and transport of fatty acids.

Authors:  M Brivet; A Boutron; A Slama; C Costa; L Thuillier; F Demaugre; D Rabier; J M Saudubray; J P Bonnefont
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

8.  Hepatic epigenetic phenotype predetermines individual susceptibility to hepatic steatosis in mice fed a lipogenic methyl-deficient diet.

Authors:  Igor P Pogribny; Volodymyr P Tryndyak; Tetyana V Bagnyukova; Stepan Melnyk; Beverly Montgomery; Sharon A Ross; John R Latendresse; Ivan Rusyn; Frederick A Beland
Journal:  J Hepatol       Date:  2009-05-03       Impact factor: 25.083

9.  Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse.

Authors:  Shaonin Ji; Yun You; Janos Kerner; Charles L Hoppel; Trenton R Schoeb; Wallace S H Chick; Doug A Hamm; J Daniel Sharer; Philip A Wood
Journal:  Mol Genet Metab       Date:  2007-11-19       Impact factor: 4.797

10.  Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

Authors:  L IJlst; H Mandel; W Oostheim; J P Ruiter; A Gutman; R J Wanders
Journal:  J Clin Invest       Date:  1998-08-01       Impact factor: 14.808
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.