Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.V105V
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VAPB

NM_004738.5:p.V105V

Associated Papers

Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China.

Xu F et al.

Bmc Medical Genomics, 2022

35932023 (PubMed )
Supplement: 12920_2022_1327_MOESM1_ESM.docx

Modelling amyotrophic lateral sclerosis in rodents.

Todd TW et al.

Nature Reviews. Neuroscience, 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

Pathogenic Genome Signatures That Damage Motor Neurons in Amyotrophic Lateral Sclerosis.

Yousefian-Jazi A et al.

Cells, 2020

Endoplasmic Reticulum Stress and Unfolded Protein Response in Neurodegenerative Diseases.

Ghemrawi R et al.

International Journal of Molecular Sciences, 2020

Disrupted neuronal trafficking in amyotrophic lateral sclerosis.

Burk K et al.

Acta Neuropathologica, 2019

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

30938443 (PubMed )
Supplement: awz078_supplementary_data.pdf

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

Picher-Martel V et al.

Acta Neuropathologica Communications, 2016

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients.

Mitne-Neto M et al.

Human Molecular Genetics, 2011

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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."