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

Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency.

Journal of inherited metabolic disease - 1 Sept 2013

Wongkittichote Parith, Tungpradabkul Sumalee, Wattanasirichaigoon Duangrurdee, Jensen Laran T

Abstract excerpt

AGC2, a member of the mitochondrial carrier protein family, is as an aspartate-glutamate carrier and is important for urea synthesis and the maintenance of the malate-aspartate shuttle. Mutations in SLC25A13, the gene encoding AGC2, result in two age dependent disorders: neonatal intrahepatic cho...

Read the complete abstract on PubMed

Topics

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

Share to Antiporters
Share to Cholestasis, Intrahepatic
Share to Citrullinemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondria

Share to Mitochondrial Membrane Transport Proteins

Share to Saccharomyces cerevisiae

Share to Sequence Alignment

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 23053473
DOI: 10.1007/s10545-012-9543-5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23053473-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency.PMID 23053473Read ↗

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.Semantic proximity Read ↗

Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.Semantic proximity Read ↗

Functional Profiling of 2,193 <i>ASS1</i> Missense Variants: Insights into Variant Pathogenicity and Epistatic Interactions in Citrullinemia Type ISemantic proximity Read ↗

AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures.Semantic proximity Read ↗

Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.Semantic proximity Read ↗

A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.Semantic proximity Read ↗

Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.Semantic proximity Read ↗

Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.Semantic proximity Read ↗

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.Semantic proximity Read ↗

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.Semantic proximity Read ↗

Mutations in SLC2A2 gene reveal hGLUT2 function in pancreatic β cell development.Semantic proximity Read ↗

Yeast Models Of Phosphomannomutase 2 Deficiency, A Congenital Disorder Of GlycosylationSemantic proximity Read ↗

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