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

Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.

Molecular and cellular biology - 1 Jan 2004

Sinasac David S, Moriyama Mitsuaki, Jalil M Abdul, Begum Laila, Li Meng Xian, Iijima Mikio, Horiuchi Masahisa, Robinson Brian H, Kobayashi Keiko, Saheki Takeyori, Tsui Lap-Chee

Abstract excerpt

Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by mutations in SLC25A13, the gene encoding the mitochondrial aspartate/glutamate carrier citrin. The absence of citrin leads to a liver-specific, quantitative decrease of argininosuccinate synthetase (ASS), causin...

Read the complete abstract on PubMed

Topics

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

Share to Ammonia
Share to Argininosuccinate Synthase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Aspartic Acid

Share to Citrullinemia

Share to Gluconeogenesis

Share to Mitochondrial Membrane Transport Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 14701727
DOI: 10.1128/MCB.24.2.527-536.2004
PMCID: PMC343808

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14701727-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.PMID 14701727Read ↗

Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.Semantic proximity Read ↗

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.Semantic proximity Read ↗

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

Citrin deficiency-The East-side story.Semantic proximity Read ↗

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

Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.Semantic proximity Read ↗

[Adult-onset citrullinemia].Semantic proximity Read ↗

[Adult-onset citrullinemia].Semantic proximity Read ↗

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

Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.Semantic proximity Read ↗

Pathogenesis and Management of Citrin Deficiency.Semantic proximity Read ↗

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.Semantic proximity Read ↗

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