Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency

Journal of Human Genetics

Volumn 47, Issue 7, 2002, Pages 342-347

  Ogawa, Emi ^a   Kanazawa, Masaki ^a   Yamamoto, Shigenori ^a,d   Ohtsuka, Satoko ^a   Ogawa, Atsushi ^a   Ohtake, Akira ^b   Takayanagi, Masaki ^c   Kohno, Yoichi ^a  

^a CHIBA UNIVERSITY   (Japan)

^b SAITAMA MEDICAL UNIVERSITY   (Japan)

^c CHIBA CHILDREN'S HOSPITAL   (Japan)

^d SHIMOSHIZU HOSPITAL   (Japan)

Author keywords

Carnitine cycle; Carnitine palmitoyltransferase; Expression study; Hypoketotic hypoglycemia; Mitochondrial Oxidation; Reye like syndrome

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; ISOENZYME; LIVER ENZYME;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARNITINE PALMITOYLTRANSFERASE DEFICIENCY; CASE REPORT; CELL LEVEL; CELL TRANSFORMATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FATTY ACID TRANSPORT; FEMALE; FIBROBLAST; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; JAPAN; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PROTEIN EXPRESSION; REYE SYNDROME; RNA SPLICING; SIMIAN VIRUS 40; ALTERNATIVE RNA SPLICING; GENETICS; IMMUNOBLOTTING; MUTATION; NORTHERN BLOTTING;

SIMIAE; SIMIAN VIRUS 40;

ALTERNATIVE SPLICING; BLOTTING, NORTHERN; CARNITINE O-PALMITOYLTRANSFERASE; FEMALE; HUMANS; IMMUNOBLOTTING; INFANT; MALE; MUTATION; MUTATION, MISSENSE;

EID: 0036303363     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200047     Document Type: Article

References (29)

1. Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency
2. Carnitine
3. Deficiency of carnitine palmitoyltransferase I
4. Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency
5. Human liver mitochondrial carnitine palmitoyltransferase I: Characterization of its cDNA and chromosomal localization and partial analysis of the gene
6. Molecular characterization of L-CPT I deficiency in six patients: Insights into function of the native enzyme
7. Hepatic and muscular presentations of carnitine palmitoyltransferase deficiency: Two distinct entities
8. Infantile form of carnitine palmitoyl transferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies
9. Cloning, sequencing, and expression of a cDNA encoding rat liver carnitine palmitoyltransferase I. Direct evidence that a single polypeptide is involved in inhibitor interaction and catalytic function
10. Brief report: Renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency
11. A case of carnitine palmitoyl transferase I deficiency
12. A typical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family
13. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
14. An expanding spectrum of metabolic disorders can cause acute fatty liver of pregnancy (AFLP), hemolysis, elevated liver enzymes and low platelets syndrome (HELLP), and hyperemesis gravidarum
15. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy
16. HSDJ, a human homolog of DnaJ, is farnesylated and is involved in protein import into mitochondria
17. Cleavage of structural proteins during the assembly of the head of bacteriophage T4
18. The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis
19. Expression vector system based on the chicken beta-actin promoter directs efficient production of interleukin-5
20. Efficient selection for high-expression transfectants with a novel eukaryotic vector
21. Molecular and enzymatic characterization of a unique carnitine palmitoyl-transferase 1A mutation in the Hutterite community
22. Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: Implications for diagnosis and therapy
23. Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency
24. Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts. Tissue specific isoforms of CPT1?
25. Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose
26. Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia
27. Molecular analysis of hepatic carnitine palmitoyltransferase I deficiency (1): cDNA and genomic DNA analysis of infants presenting with Reye-like illness
28. Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I
29. Structure-function relationships of the liver and muscle isoforms of carnitine palmitoyltransferase I