Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.I383T
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TARDBP

NM_007375.4:p.I383T

Associated Papers

Transcriptome-based screening in TARDBP/TDP-43 knock-in motor neurons identifies the NEDD8-activating enzyme inhibitor MLN4924.

Lépine S et al.

Scientific Reports, 2025

Pathogenic TDP-43 in amyotrophic lateral sclerosis.

Chong ZZ et al.

Drug Discovery Today, 2025

Amyotrophic lateral sclerosis caused by TARDBP mutations: from genetics to TDP-43 proteinopathy.

Balendra R et al.

The Lancet. Neurology, 2025

40252666 (PubMed )
Supplement: EMS205435-supplement-Supplementary_table_1.pdf

Proteome Aggregation in Cells Derived from Amyotrophic Lateral Sclerosis Patients for Personalized Drug Evaluation.

Pérez de la Lastra Aranda C et al.

Acs Chemical Neuroscience, 2024

Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids.

van der Geest AT et al.

Acta Neuropathologica Communications, 2024

Dynactin-1 mediates rescue of impaired axonal transport due to reduced mitochondrial bioenergetics in amyotrophic lateral sclerosis motor neurons.

Dafinca R et al.

Brain Communications, 2024

TDP-43 dysregulation and neuromuscular junction disruption in amyotrophic lateral sclerosis.

Lépine S et al.

Translational Neurodegeneration, 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

Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD.

Dafinca R et al.

Stem Cell Reports, 2020

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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."