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Article

ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.

Molecular genetics and metabolism - 1 Jan 2024

Seidl Marie J, Scharre Svenja, Posset Roland, Druck Ann-Catrin, Epp Friederike, Okun Jürgen G, Dimitrov Bianca, Hoffmann Georg F, Kölker Stefan, Zielonka Matthias

Abstract excerpt

Citrullinemia type 1 (CTLN1) is a rare autosomal recessive urea cycle disorder caused by deficiency of the cytosolic enzyme argininosuccinate synthetase 1 (ASS1) due to pathogenic variants in the ASS1 gene located on chromosome 9q34.11. Even though hyperammenomia is considered the major pathomechanistic factor for neurological impairment and cognitive dysfunction, a relevant subset of individuals presents with a...

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Source

Identifiers

PMID: 38113552
DOI: 10.1016/j.ymgme.2023.108097

Genes

ASS1

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.

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ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.PMID 38113552Read ↗

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