Article

A genetic and physiological model of renal dysfunction in Lowe syndrome

2024-01-16

Abstract excerpt

Lowe syndrome (LS) is an X-linked recessive genetic disorder characterized by renal dysfunction, neurodevelopmental defects, and cataract. The affected gene, OCRL encodes for a polyphosphoinositide 5-phosphatase. OCRL is localized to multiple sub-cellular locations in the endolysosomal system and defects in these organelles have been described in human cells depleted of OCRL. However, the relationship of the endo...

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Literature Corpus work: f4c96eaa-0607-50d1-ac8e-541932309c25
DOI: 10.1101/2024.01.15.575703

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