Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.L300S
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ARSA

NM_000487.6:p.L300S

Associated Papers

Association of Rare Variants in ARSA with Parkinson's Disease.

Senkevich K et al.

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

Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.

Trinidad M et al.

Genome Biology, 2023

37480112 (PubMed )
Supplement: 13059_2023_3001_MOESM1_ESM.xlsx › Table_S1

From Lysosomal Storage Disorders to Parkinson's Disease - Challenges and Opportunities.

Mächtel R et al.

Journal of Molecular Biology, 2023

Association of rare variants in ARSA with Parkinson's disease.

Senkevich K et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery.

Rigon L et al.

Biomedicines, 2021

Arylsulfatase A (ASA) in Parkinson's Disease: From Pathogenesis to Biomarker Potential.

Angelopoulou E et al.

Brain Sciences, 2020

Genetic analysis of arylsulfatase A (ARSA) in Chinese patients with Parkinson's disease.

Ruan Y et al.

Neuroscience Letters, 2020

Chaperones and Proteostasis: Role in Parkinson's Disease.

Joshi N et al.

Diseases (basel, Switzerland), 2020

ARSA gene variants and Parkinson's disease.

Fan Y et al.

Brain : a Journal of Neurology, 2020

Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.

Paciotti S et al.

Journal of Clinical Medicine, 2020

ARSA variants in α-synucleinopathies.

Makarious MB et al.

Brain : a Journal of Neurology, 2019

Arylsulfatase A, a genetic modifier of Parkinson's disease, is an α-synuclein chaperone.

Lee JS et al.

Brain : a Journal of Neurology, 2019

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

Cesani M et al.

Human Mutation, 2016

Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.

Liaw HR et al.

Orphanet Journal of Rare Diseases, 2015

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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."