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

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

We previously identified a homozygous G178R mutation in human <i>ASRGL1</i> (<i>hASRGL1</i>) 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...

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Bibliographic Details
Main Authors: Pooja Biswas, Anne Marie Berry, Qais Zawaydeh, Dirk-Uwe G. Bartsch, Pongali B. Raghavendra, J. Fielding Hejtmancik, Naheed W. Khan, S. Amer Riazuddin, Radha Ayyagari
Format: Article
Language:English
Published: MDPI AG 2022-08-01
Series:Genes
Subjects:
<i>ASRGL1</i>
animal model
CRISPR/Cas9
early onset degeneration
Online Access:https://www.mdpi.com/2073-4425/13/8/1461

Internet

https://www.mdpi.com/2073-4425/13/8/1461

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