Associated Papers
Induced pluripotent stem cells carrying novel APTX mutations presented defective neural differentiation with the accumulation of DNA single-strand breaks.
Chen Z et al.
Cell Death Discovery, 2025
Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review.
Albaradie R et al.
Experimental and Therapeutic Medicine, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
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
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
Schellenberg MJ et al.
Progress in Biophysics and Molecular Biology, 2015
Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.
Tumbale P et al.
Nature, 2014
Structure of an aprataxin-DNA complex with insights into AOA1 neurodegenerative disease.
Tumbale P et al.
Nature Structural & Molecular Biology, 2011
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Yokoseki A et al.
Brain : a Journal of Neurology, 2011
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
Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Sugawara M et al.
European Neurology, 2008
Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype.
Criscuolo C et al.
Neurology, 2004
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