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A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype.

Genes - 17 Aug 2022

Biswas Pooja, Berry Anne Marie, Zawaydeh Qais, Bartsch Dirk-Uwe G, Raghavendra Pongali B, Hejtmancik J Fielding, Khan Naheed W, Riazuddin S Amer, Ayyagari Radha

Abstract excerpt

We previously identified a homozygous G178R mutation in human ASRGL1 (hASRGL1) through whole-exome analysis responsible for early onset retinal degeneration (RD) in patients with cone-rod dystrophy. The mutant G178R ASRGL1 expressed in Cos-7 cells showed altered localization, while the mutant ASRGL1 in E. coli lacked the autocatalytic activity needed to generate the active protein. To evaluate the effect of...

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Identifiers

PMID: 36011372
DOI: 10.3390/genes13081461
PMCID: PMC9408336

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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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