Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.A315T
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SQSTM1

NM_003900.5:p.A315T

Associated Papers

Diving deep: zebrafish models in motor neuron degeneration research.

Garg V et al.

Frontiers in Neuroscience, 2024

The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Davidson JM et al.

Neurobiology of Disease, 2022

Molecular Mechanisms Underlying TDP-43 Pathology in Cellular and Animal Models of ALS and FTLD.

Wood A et al.

International Journal of Molecular Sciences, 2021

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Nagasawa S et al.

Communications Biology, 2021

33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM9_ESM.xlsx › merge_mutation_filt_pair_contro

The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

Hergesheimer RC et al.

Brain : a Journal of Neurology, 2019

Emerging understanding of the genotype-phenotype relationship in amyotrophic lateral sclerosis.

Goutman SA et al.

Handbook of Clinical Neurology, 2018

Modeling ALS and FTD with iPSC-derived neurons.

Lee S et al.

Brain Research, 2017

From animal models to human disease: a genetic approach for personalized medicine in ALS.

Picher-Martel V et al.

Acta Neuropathologica Communications, 2016

Rodent Models of Amyotrophic Lateral Sclerosis.

Philips T et al.

Current Protocols in Pharmacology, 2015

The distinct genetic pattern of ALS in Turkey and novel mutations.

Özoğuz A et al.

Neurobiology of Aging, 2015

Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins.

Watanabe S et al.

The Journal of Biological Chemistry, 2013

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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."