Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.E18V
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OPTN

NM_001008212.2:p.E18V

Associated Papers

Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.

Lu J et al.

Autophagy, 2026

Mitophagy in the pathogenesis and management of disease.

Wang Q et al.

Cell Research, 2026

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

Post-translational modification and mitochondrial function in Parkinson's disease.

Luo S et al.

Frontiers in Molecular Neuroscience, 2023

Dynamin-related protein 1: A protein critical for mitochondrial fission, mitophagy, and neuronal death in Parkinson's disease.

Feng ST et al.

Pharmacological Research, 2020

Oligodendrogliopathy in neurodegenerative diseases with abnormal protein aggregates: The forgotten partner.

Ferrer I

Progress in Neurobiology, 2018

Role of Optineurin in the Mitochondrial Dysfunction: Potential Implications in Neurodegenerative Diseases and Cancer.

Weil R et al.

Frontiers in Immunology, 2018

Amyotrophic lateral sclerosis: update and new developments.

Pratt AJ et al.

Degenerative Neurological and Neuromuscular Disease, 2012

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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."