Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes

Lowe Syndrome (LS) is a condition due to mutations in the OCRL1 gene, characterized by congenital cataracts, intellectual disability, and kidney malfunction. Unfortunately, patients succumb to renal failure after adolescence. This study is centered in investigating the biochemical and phenotypic imp...

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Detalles Bibliográficos
Autores principales: Lee, Jennifer J., Ramadesikan, Swetha, Black, Adrianna F., Christoffer, Charles, Pacheco, Andres F. Pacheco, Subramanian, Sneha, Hanna, Claudia B., Barth, Gillian, Stauffacher, Cynthia V., Kihara, Daisuke, Aguilar, Ruben Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10135975/
https://www.ncbi.nlm.nih.gov/pubmed/37189363
http://dx.doi.org/10.3390/biom13040615

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