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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

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...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9408336/ https://www.ncbi.nlm.nih.gov/pubmed/36011372 http://dx.doi.org/10.3390/genes13081461

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