Lowe syndrome – Old and new evidence of secondary mitochondrial dysfunction

From lowe syndrome to Dent disease: correlations between mutations of the <i>OCRL1</i> gene and clinical and biochemical phenotypes

Haifa Hichri, John Rendu, Nicole Monnier et al. · Human Mutation · 2010 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

Brian G. Coon, Víctor Hernández-Hernández, Kayalvizhi Madhivanan et al. · Human Molecular Genetics · 2012 · 96 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease

Beatrice Paola Festa, Marine Berquez, Alkaly Gassama et al. · Human Molecular Genetics · 2018 · 63 citations · Full text

Life Sciences, Cell Biology, Genetics +17

Molecular confirmation of carriers for Lowe syndrome

Ti Lin, Richard A. Lewis, Robert L. Nussbaum · Ophthalmology · 1999 · 49 citations

Life Sciences, Genetics, Molecular Genetics +9

Lowe's syndrome

Edgar J. Schoen · The American Journal of Medicine · 1959 · 47 citations