Varaico: Literature-Extracted Genetic Variants

Gene:APTX
Variant:p.S242N
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APTX

NM_001195248.2:p.S242N

Associated Papers

Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.

Legati A et al.

Current Neurology and Neuroscience Reports, 2023

Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.

Tumbale P et al.

The Embo Journal, 2018

Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.

Saghazadeh A et al.

Acta Medica Iranica, 2017

Chronic oxidative damage together with genome repair deficiency in the neurons is a double whammy for neurodegeneration: Is damage response signaling a potential therapeutic target?

Wang H et al.

Mechanisms of Ageing and Development, 2017

Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.

Schellenberg MJ et al.

Progress in Biophysics and Molecular Biology, 2015

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.

Tada M et al.

Advances in Experimental Medicine and Biology, 2010

Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin.

Rass U et al.

The Journal of Biological Chemistry, 2008

Single-strand break repair and genetic disease.

Caldecott KW

Nature Reviews. Genetics, 2008

Aprataxin (APTX) gene mutations resembling multiple system atrophy.

Baba Y et al.

Parkinsonism & Related Disorders, 2007

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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."