Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.A53T
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SQSTM1

NM_003900.5:p.A53T

Associated Papers

Alpha-Synuclein Neurobiology in Parkinson's Disease: A Comprehensive Review of Its Role, Mechanisms, and Therapeutic Perspectives.

Pitton Rissardo J et al.

Brain Sciences, 2025

Insights Into Retinal Pathologies in Neurological Disorders: A Focus on Parkinson's Disease, Multiple Sclerosis, Amyotrophic Lateral Sclerosis, and Alzheimer's Disease.

Akyuz E et al.

Journal of Neuroscience Research, 2025

Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis.

Wang S et al.

Journal of Medical Genetics, 2024

TOLLIP acts as a cargo adaptor to promote lysosomal degradation of aberrant ER membrane proteins.

Hayashi Y et al.

The Embo Journal, 2023

37929762 (PubMed )
Supplement: EMBJ-42-e114272-s006.pdf

The HSPB1-p62/SQSTM1 functional complex regulates the unconventional secretion and transcellular spreading of the HD-associated mutant huntingtin protein.

Bonavita R et al.

Human Molecular Genetics, 2023

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Unique seeding profiles and prion-like propagation of synucleinopathies are highly dependent on the host in human α-synuclein transgenic mice.

Lloyd GM et al.

Acta Neuropathologica, 2022

Role of lysosomes in physiological activities, diseases, and therapy.

Zhang Z et al.

Journal of Hematology & Oncology, 2021

SQSTM1L341V variant that is linked to sporadic ALS exhibits impaired association with MAP1LC3 in cultured cells.

Nozaki M et al.

Eneurologicalsci, 2021

Targeting of Lysosomal Pathway Genes for Parkinson's Disease Modification: Insights From Cellular and Animal Models.

Abe T et al.

Frontiers in Neurology, 2021

Current Evidence for a Bidirectional Loop Between the Lysosome and Alpha-Synuclein Proteoforms.

Wildburger NC et al.

Frontiers in Cell and Developmental Biology, 2020

Replication of multiple system atrophy prions in primary astrocyte cultures from transgenic mice expressing human α-synuclein.

Krejciova Z et al.

Acta Neuropathologica Communications, 2019

Familial Parkinson's point mutation abolishes multiple system atrophy prion replication.

Woerman AL et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Autophagy and Alpha-Synuclein: Relevance to Parkinson's Disease and Related Synucleopathies.

Xilouri M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2016

p62 Deficiency Enhances α-Synuclein Pathology in Mice.

Tanji K et al.

Brain Pathology (zurich, Switzerland), 2015

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

van der Zee J et al.

Acta Neuropathologica, 2014

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.

Kwok CT et al.

European Journal of Human Genetics : Ejhg, 2014

Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis.

Hirano M et al.

Neurology, 2013

Part II: alpha-synuclein and its molecular pathophysiological role in neurodegenerative disease.

Dev KK et al.

Neuropharmacology, 2003

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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."