Varaico: Literature-Extracted Genetic Variants

Gene:P4HB
Variant:p.D18V
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P4HB

NM_000918.4:p.D18V

Associated Papers

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

Protein Misfolding and Aggregation: The Relatedness between Parkinson's Disease and Hepatic Endoplasmic Reticulum Storage Disorders.

Padilla-Godínez FJ et al.

International Journal of Molecular Sciences, 2021

α-Synuclein binds to the ER-mitochondria tethering protein VAPB to disrupt Ca2+ homeostasis and mitochondrial ATP production.

Paillusson S et al.

Acta Neuropathologica, 2017

28337542 (PubMed )
Supplement: 401_2017_1704_MOESM1_ESM.pdf

A sensitive assay reveals structural requirements for α-synuclein fibril growth.

Dhavale DD et al.

The Journal of Biological Chemistry, 2017

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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."