Lowe Syndrome Latest Advances

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

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

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Journal: Prenatal diagnosis

Published: February 12, 2024

Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts.

Journal: Human molecular genetics

Published: December 18, 2023

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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.

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.

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts.

Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts.