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

doi:10.3390/biom13040615

Article

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

Biomolecules - 29 Mar 2023

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

Abstract excerpt

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 impact of patient's OCRL1 variants (OCRL1VAR). Specifically, we tested the hypothesis that some OCRL1VAR are stabilized...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

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

Abstract excerpt

Topics

Related research