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

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.

The Journal of biological chemistry - 25 Feb 1993

Mitchell G A, Robert M F, Hruz P W, Wang S, Fontaine G, Behnke C E, Mende-Mueller L M, Schappert K, Lee C, Gibson K M, Miziorko H M

Abstract excerpt

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL) catalyzes the final step of ketogenesis, an important pathway of mammalian energy metabolism. HL deficiency is an autosomal recessive inborn error in man leading to episodes of hypoglycemia and coma. Using the N-terminal peptide sequence of purified chicken liver HL, we designed degenerate sequence primers and amplified an 89-base pair (bp) chicken liver HL cDNA...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cloning, Molecular

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Sequence Homology, Nucleic Acid

Source

Identifiers

PMID: 8440722

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

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.PMID 8440722Read ↗

3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice.Semantic proximity Read ↗

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.Semantic proximity Read ↗

Molecular basis of 3-hydroxy-3-methylglutaric aciduria.Semantic proximity Read ↗

Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.Semantic proximity Read ↗

Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.Semantic proximity Read ↗

The molecular basis of malonyl-CoA decarboxylase deficiency.Semantic proximity Read ↗

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.Semantic proximity Read ↗

Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.Semantic proximity Read ↗

Human mitochondrial HMG CoA synthase: liver cDNA and partial genomic cloning, chromosome mapping to 1p12-p13, and possible role in vertebrate evolution.Semantic proximity Read ↗

Cloning and Sequencing of the cDNA for the Light Subunit of Human Liver γ-Glutamylcysteine Synthetase and Relative RNA Levels for Heavy and Light Subunits in Human Normal TissuesSemantic proximity Read ↗

Lysyl hydroxylase 3 is a multifunctional protein possessing collagen glucosyltransferase activity.Semantic proximity Read ↗

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.Semantic proximity Read ↗

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