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Last Updated: 01/07/2026

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Found 212 publications

Dominant MLC-causing mutations alter hepaCAM subcellular localization and protein interactome in astrocytes of the developing mouse cortex.

Dominant MLC-causing mutations alter hepaCAM subcellular localization and protein interactome in astrocytes of the developing mouse cortex.

Journal: bioRxiv : the preprint server for biology
Published: September 02, 2025

Uncommon Allies: Van der Knaap Syndrome and Focal Segmental Glomerulosclerosis.

Uncommon Allies: Van der Knaap Syndrome and Focal Segmental Glomerulosclerosis.

Journal: The Journal of the Association of Physicians of India
Published: August 21, 2025

Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction.

Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction.

Journal: Neurobiology of disease
Published: July 30, 2025

Regulation of the Orphan G Protein-Coupled Receptor GPRC5B by MLC1 and the Cell Adhesion Molecule GlialCAM in Megalencephalic Leukoencephalopathy.

Regulation of the Orphan G Protein-Coupled Receptor GPRC5B by MLC1 and the Cell Adhesion Molecule GlialCAM in Megalencephalic Leukoencephalopathy.

Journal: The Journal of biological chemistry
Published: July 02, 2025

Agrawal Disease (Megalencephalic Leukoencephalopathy with Subcortical Cysts): A Rare Neurological Case Report.

Agrawal Disease (Megalencephalic Leukoencephalopathy with Subcortical Cysts): A Rare Neurological Case Report.

Journal: Annals of African medicine
Published: June 13, 2025

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Journal: Italian journal of pediatrics
Published: February 25, 2025

Breakdown of blood-brain barrier, astrocytic endfeet swelling, and abnormal behaviors by blockade of TROY signaling in TROY-Fc transgenic mice.

Breakdown of blood-brain barrier, astrocytic endfeet swelling, and abnormal behaviors by blockade of TROY signaling in TROY-Fc transgenic mice.

Journal: Brain, behavior, and immunity
Published: February 18, 2025

Altered Mechanical Properties of Astrocytes Lacking MLC1: Implications for the Leukodystrophy MLC.

Altered Mechanical Properties of Astrocytes Lacking MLC1: Implications for the Leukodystrophy MLC.

Journal: Glia
Published: February 14, 2025

Megalencephalic Leukoencephalopathy With Subcortical Cysts in an Adult.

Megalencephalic Leukoencephalopathy With Subcortical Cysts in an Adult.

Journal: Deutsches Arzteblatt international
Published: January 22, 2025

MLC1 alteration in iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage.

MLC1 alteration in iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage.

Journal: bioRxiv : the preprint server for biology
Published: January 20, 2025

Inherited white matter disorders in Japan: focusing on demyelinating leukodystrophy.

Inherited white matter disorders in Japan: focusing on demyelinating leukodystrophy.

Journal: Brain & development
Published: December 29, 2024

Imaging in atypical van der knaap disease with subependymal nodular heterotopia: A case report.

Imaging in atypical van der knaap disease with subependymal nodular heterotopia: A case report.

Journal: Radiology case reports
Published: September 02, 2024
Showing 1-12 of 212

Last Updated: 01/07/2026