Varaico: Literature-Extracted Genetic Variants

Gene:ANPEP
Variant:p.C24Y
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ANPEP

NM_001150.3:p.C24Y

Associated Papers

Deficiency of Perry syndrome-associated p150Glued in midbrain dopaminergic neurons leads to progressive neurodegeneration and endoplasmic reticulum abnormalities.

Yu J et al.

Npj Parkinson's Disease, 2023

Perry Disease: Concept of a New Disease and Clinical Diagnostic Criteria.

Tsuboi Y et al.

Journal of Movement Disorders, 2021

Establishing diagnostic criteria for Perry syndrome.

Mishima T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

Reduced TDP-43 Expression Improves Neuronal Activities in a Drosophila Model of Perry Syndrome.

Hosaka Y et al.

Ebiomedicine, 2017

P150glued-associated disorders are caused by activation of intrinsic apoptotic pathway.

Ishikawa K et al.

Plos One, 2014

Disease-associated mutations in the p150(Glued) subunit destabilize the CAP-gly domain.

Ahmed S et al.

Biochemistry, 2010

Dynactin mutations and promises for neurodegenerative pathology.

Stein RA

Clinical Genetics, 2009

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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."