Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.L444P
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NUP62

NM_016553.5:p.L444P

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

Autophagy Process in Parkinson's Disease Depends on Mutations in the GBA1 and LRRK2 Genes.

Bezrukova AI et al.

Biochemical Genetics, 2025

Glitazone Treatment Rescues Phenotypic Deficits in a Fly Model of Gaucher/Parkinson's Disease.

Shola-Dare O et al.

International Journal of Molecular Sciences, 2021

Modelling Parkinson's Disease: iPSCs towards Better Understanding of Human Pathology.

Avazzadeh S et al.

Brain Sciences, 2021

GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson's Disease.

Cerri S et al.

International Journal of Molecular Sciences, 2021

Genetic predispositions of Parkinson's disease revealed in patient-derived brain cells.

Tran J et al.

Npj Parkinson's Disease, 2020

Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations.

Li H et al.

Autophagy, 2019

α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.

Yun SP et al.

Molecular Neurodegeneration, 2018

29310663 (PubMed )
Supplement: 13024_2017_233_MOESM9_ESM.pdf

Mitochondria: A Common Target for Genetic Mutations and Environmental Toxicants in Parkinson's Disease.

Helley MP et al.

Frontiers in Genetics, 2017

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells.

McNeill A et al.

Brain : a Journal of Neurology, 2014

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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."