Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

Journal of human genetics - 1 Jan 2002

Ogawa Emi, Kanazawa Masaki, Yamamoto Shigenori, Ohtsuka Satoko, Ogawa Atsushi, Ohtake Akira, Takayanagi Masaki, Kohno Yoichi

Abstract excerpt

Carnitine palmitoyltransferase I (CPT I) is one of the carnitine cycle enzymes that plays a role in the transportation of long-fatty acids into the mitochondria for beta-oxidation. Hepatic carnitine palmitoyltransferase I (CPT IA) is one of the isozymes of CPT I, and its deficiency results in an autosomal recessive mitochondrial fatty acid oxidation disorder. To date, 19 patients with CPT IA deficiency and 9 CPT...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Blotting, Northern

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carnitine O-Palmitoyltransferase

Share to Immunoblotting

Share to Infant

Share to Mutation

Share to Mutation, Missense

Source

Identifiers

PMID: 12111367
DOI: 10.1007/s100380200047

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.PMID 12111367Read ↗

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.Semantic proximity Read ↗

Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.Semantic proximity Read ↗

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.Semantic proximity Read ↗

Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.Semantic proximity Read ↗

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.Semantic proximity Read ↗

Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency.Semantic proximity Read ↗

Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.Semantic proximity Read ↗

A novel mutation identified in carnitine palmitoyltransferase II deficiency.Semantic proximity Read ↗

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.Semantic proximity Read ↗

[Clinical features and gene mutations of 6 patients with carnitine palmitoyltransferase 1A deficiency].Semantic proximity Read ↗

Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.Semantic proximity Read ↗

Abbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblasts.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.