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

Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data.

Journal of inherited metabolic disease - 1 May 2023

Yuan Yuheng, Dimitrov Bianca, Boy Nikolas, Gleich Florian, Zielonka Matthias, Kölker Stefan

Abstract excerpt

Glutaric aciduria type 1 (GA1) is caused by inherited deficiency of glutaryl-CoA dehydrogenase (GCDH). To further understand the unclear genotype-phenotype correlation, we transfected mutated GCDH into COS-7 cells resembling known biallelic GCDH variants of 47 individuals with GA1. In total, we modeled 36 genotypes with 32 missense variants. Spectrophotometry demonstrated an inverse correlation between residual...

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 Brain Diseases, Metabolic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Glutarates

Share to Glutaryl-CoA Dehydrogenase

Share to Mutation, Missense

Share to Phenotype

Source

Identifiers

PMID: 37078465
DOI: 10.1002/jimd.12618

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data.PMID 37078465Read ↗

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.Semantic proximity Read ↗

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.Semantic proximity Read ↗

Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.Semantic proximity Read ↗

Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.Semantic proximity Read ↗

Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.Semantic proximity Read ↗

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.Semantic proximity Read ↗

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.Semantic proximity Read ↗

Infantile-Onset Glutaric Acidemia Type I with Mild Hepatopathy: Clinical, Biochemical, and Molecular Characterization of an Iranian Pediatric Cohort.Semantic proximity Read ↗

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 VariantsSemantic proximity Read ↗

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.Semantic proximity Read ↗

Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.Semantic proximity Read ↗

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