Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.N370S
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MFAP1

NM_005926.3:p.N370S

Associated Papers

Restoration of Lysosomal Hydrolase Activities by LRRK2 Inhibition in GBA1- and LRRK2-Associated Parkinson's Disease Patient-Derived Cells.

Usenko TS et al.

Journal of Neurochemistry, 2025

Cognitive Effects of Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease with GBA1 Pathogenic Variants.

Pal GD et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2023

Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers.

Pal G et al.

Annals of Neurology, 2022

Bioengineered models of Parkinson's disease using patient-derived dopaminergic neurons exhibit distinct biological profiles in a 3D microenvironment.

Fiore NJ et al.

Cellular and Molecular Life Sciences : Cmls, 2022

β-Glucosidase 2 (GBA2) activity and imino sugar pharmacology.

Ridley CM et al.

The Journal of Biological Chemistry, 2013

Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts.

Aureli M et al.

Journal of Inherited Metabolic Disease, 2012

Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention.

Aerts JM et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2003

Substrate reduction therapy of glycosphingolipid storage disorders.

Aerts JM et al.

Journal of Inherited Metabolic Disease, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."