Lowe Syndrome Latest Advances

Pediatric Mixed-Phenotype Acute Leukemia in a Patient With Lowe Syndrome.

Journal: Pediatric blood & cancer

Published: March 04, 2026

Clinical variation in Lowe syndrome: what and how?

Journal: Frontiers in cell and developmental biology

Published: October 08, 2025

Mitochondrial structure and function in OCRL depleted cells.

Journal: Frontiers in cell and developmental biology

Published: August 05, 2025

Lipid turnover and GEF recruitment collectively determine Rab5 recruitment and activation during the first step of early endosome formation.

Journal: Nature communications

Published: August 01, 2025

Modelling Lowe syndrome and Dent-2 disease using zebrafish.

Journal: Frontiers in cell and developmental biology

Published: May 28, 2025

Enhanced Notch dependent gliogenesis and delayed physiological maturation underlie neurodevelopmental defects in Lowe syndrome.

Journal: EMBO molecular medicine

Published: May 16, 2025

The inositol 5-phosphatases OCRL and INPP5B: Cellular functions and roles in disease.

Journal: Biochimica et biophysica acta. Molecular and cell biology of lipids

Published: May 02, 2025

Lowe Syndrome and Me: a co-creation video series connecting patients, caregivers, and researchers.

Journal: Frontiers in cell and developmental biology

Published: April 11, 2025

Defective Neurogenesis in Lowe Syndrome is Caused by Mitochondria Loss and Cilia-related Sonic Hedgehog Defects.

Journal: bioRxiv : the preprint server for biology

Published: November 18, 2024

Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions.

Journal: Kidney international reports

Published: September 08, 2024

OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.

Journal: Biomolecules

Published: May 29, 2024

A female patient with Dent disease due to skewed X-chromosome inactivation.

Journal: Clinical kidney journal

Published: February 12, 2024

Lowe Syndrome Latest Advances

Find the Latest Research About Lowe Syndrome

Pediatric Mixed-Phenotype Acute Leukemia in a Patient With Lowe Syndrome.

Pediatric Mixed-Phenotype Acute Leukemia in a Patient With Lowe Syndrome.

Clinical variation in Lowe syndrome: what and how?

Clinical variation in Lowe syndrome: what and how?

Mitochondrial structure and function in OCRL depleted cells.

Mitochondrial structure and function in OCRL depleted cells.

Lipid turnover and GEF recruitment collectively determine Rab5 recruitment and activation during the first step of early endosome formation.

Lipid turnover and GEF recruitment collectively determine Rab5 recruitment and activation during the first step of early endosome formation.

Modelling Lowe syndrome and Dent-2 disease using zebrafish.

Modelling Lowe syndrome and Dent-2 disease using zebrafish.

Enhanced Notch dependent gliogenesis and delayed physiological maturation underlie neurodevelopmental defects in Lowe syndrome.

Enhanced Notch dependent gliogenesis and delayed physiological maturation underlie neurodevelopmental defects in Lowe syndrome.

The inositol 5-phosphatases OCRL and INPP5B: Cellular functions and roles in disease.

The inositol 5-phosphatases OCRL and INPP5B: Cellular functions and roles in disease.

Lowe Syndrome and Me: a co-creation video series connecting patients, caregivers, and researchers.

Lowe Syndrome and Me: a co-creation video series connecting patients, caregivers, and researchers.

Defective Neurogenesis in Lowe Syndrome is Caused by Mitochondria Loss and Cilia-related Sonic Hedgehog Defects.

Defective Neurogenesis in Lowe Syndrome is Caused by Mitochondria Loss and Cilia-related Sonic Hedgehog Defects.

Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions.

Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions.

OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.

OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.

A female patient with Dent disease due to skewed X-chromosome inactivation.

A female patient with Dent disease due to skewed X-chromosome inactivation.