A missense mutant of ocrl1 promotes apoptosis of tubular epithelial cells and disrupts endocytosis and the cell cycle of podocytes in Dent-2 Disease

BACKGROUND: This study aimed to identify an orcl1 mutation in a patient with Dent-2 Disease and investigate the underlying mechanisms. METHODS: The ocrl1 mutation was identified through exome sequencing. Knockdown of orcl1 and overexpression of the orcl1 mutant were performed in HK-2 and MPC5 cells...

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Detalles Bibliográficos
Autores principales: Huang, Limin, Zhang, Yingying, Fu, Haidong, Gu, Weizhong, Mao, Jianhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696739/
https://www.ncbi.nlm.nih.gov/pubmed/38049819
http://dx.doi.org/10.1186/s12964-023-01272-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696739/
https://www.ncbi.nlm.nih.gov/pubmed/38049819
http://dx.doi.org/10.1186/s12964-023-01272-4

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