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

Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).

Human genetics - 1 Apr 2003

Wang Jian, Hegele Robert A

Abstract excerpt

Hereditary cystathioninuria (MIM 219500) is presumed to be caused by deficiency of the activity of cystathionine gamma-lyase (cystathionase; CTH EC 4.4.1.1), which is normally required for the conversion of methionine into cysteine. To date, no mutations have been described among patients with cystathioninuria. From genomic DNA, we sequenced CTH in four unrelated probands with cystathioninuria. We found two...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to Base Sequence
Share to Cell Line

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Lymphocytes

Share to Molecular Sequence Data

Share to Mutation, Missense

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 12574942
DOI: 10.1007/s00439-003-0906-8

Genes

CTH

Variants

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

Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).PMID 12574942Read ↗

Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations.Semantic proximity Read ↗

Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase.Semantic proximity Read ↗

The Human Cystathionine β-Synthase (CBS) Gene: Complete Sequence, Alternative Splicing, and PolymorphismsSemantic proximity Read ↗

Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.Semantic proximity Read ↗

Molecular genetics of homocysteine metabolism.Semantic proximity Read ↗

Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studiesSemantic proximity Read ↗

Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.Semantic proximity Read ↗

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.Semantic proximity Read ↗

Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.Semantic proximity Read ↗

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.Semantic proximity Read ↗

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.Semantic proximity Read ↗

Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.Semantic proximity Read ↗

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