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

Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.

Metabolic brain disease - 1 Dec 2002

Saheki Takeyori, Kobayashi Keiko, Iijima Mikio, Nishi Ikumi, Yasuda Tomotsugu, Yamaguchi Naoki, Gao Hong Zhi, Jalil Md Abdul, Begum Laila, Li Meng Xian

Abstract excerpt

Adult-onset type II citrullinemia (CTLN2), characterized by a liver-specific deficiency of urea cycle enzyme, argininosuccinate synthetase, is caused by mutations in SLC25A13 that encodes a calcium binding mitochondrial solute carrier protein, citrin. Citrin deficiency causes not only CTLN2 but also neonatal intrahepatic cholestasis caused by citrin deficiency at neonatal period. Moreover citrin and its isoform...

Read the complete abstract on PubMed

Topics

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

Share to Calcium-Binding Proteins
Share to Cholestasis, Intrahepatic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Citrulline

Share to Infant, Newborn, Diseases

Share to Metabolism, Inborn Errors

Share to Mitochondrial Membrane Transport Proteins

Share to Mitochondrial Proteins

Share to Organic Anion Transporters

Source

Identifiers

PMID: 12602510
DOI: 10.1023/a:1021961919148

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

Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.PMID 12602510Read ↗

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 ↗

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

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

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

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

[Adult-onset citrullinemia].Semantic proximity Read ↗

[Adult-onset citrullinemia].Semantic proximity Read ↗

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.Semantic proximity Read ↗

Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.Semantic proximity Read ↗

Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants.Semantic proximity Read ↗

Pathogenesis and Management of Citrin Deficiency.Semantic proximity Read ↗

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