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

Functional analysis of mutations in the human carnitine/acylcarnitine translocase in Aspergillus nidulans.

Fungal genetics and biology : FG & B - 1 Aug 2003

Pérez Patricia, Martínez Oscar, Romero Beatriz, Olivas Israel, Pedregosa Ana M, Palmieri Ferdinando, Laborda Fernando, Ramón De Lucas J

Abstract excerpt

Deficiency of the carnitine/acylcarnitine translocase (CACT), the most severe disorder of fatty acid beta-oxidation, is usually lethal in both humans and animals, precluding the development of animal models of the disease. In contrast, CACT deficiency is conditionally lethal in the fungus Aspergillus nidulans, since loss-of-function mutations in acuH, the translocase structural gene, do not prevent growth on...

Read the complete abstract on PubMed

Topics

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

Share to Aspergillus nidulans
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Recombinant

Share to Gene Deletion

Share to Genetic Complementation Test

Share to Mutation

Share to Plasmids

Share to Transformation, Genetic

Source

Identifiers

PMID: 12892634
DOI: 10.1016/s1087-1845(03)00049-5

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

Functional analysis of mutations in the human carnitine/acylcarnitine translocase in Aspergillus nidulans.PMID 12892634Read ↗

Functional analysis of mutant human carnitine acylcarnitine translocases in yeast.Semantic proximity Read ↗

Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.Semantic proximity Read ↗

Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.Semantic proximity Read ↗

Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.Semantic proximity Read ↗

Prospective treatment in carnitine-acylcarnitine translocase deficiency.Semantic proximity Read ↗

Seven functional classes of Barth syndrome mutation.Semantic proximity Read ↗

Characterizing fatty acid oxidation genes in Drosophila.Semantic proximity Read ↗

Structure and function of carnitine acyltransferases.Semantic proximity Read ↗

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.Semantic proximity Read ↗

The Aspergillus fumigatus transcriptional activator CpcA contributes significantly to the virulence of this fungal pathogenSemantic proximity Read ↗

A fungal perspective on human inborn errors of metabolism: alkaptonuria and beyond.Semantic proximity Read ↗

CRAT missense variants cause abnormal carnitine acetyltransferase function in an early‐onset case of Leigh syndromeSemantic proximity Read ↗

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