Associated Papers
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
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Tumbale P et al.
The Embo Journal, 2018
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.
Mariani LL et al.
Scientific Reports, 2017
Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.
Saghazadeh A et al.
Acta Medica Iranica, 2017
Processing ribonucleotides incorporated during eukaryotic DNA replication.
Williams JS et al.
Nature Reviews. Molecular Cell Biology, 2016
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
Ribonucleotide triggered DNA damage and RNA-DNA damage responses.
Wallace BD et al.
Rna Biology, 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
Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.
Tsao CY et al.
Journal of Child Neurology, 2005
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
Seidle HF et al.
The Journal of Biological Chemistry, 2005
Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency.
Goldenberg PC et al.
Neurology, 2003
Phenotypic variability of aprataxin gene mutations.
Tranchant C et al.
Neurology, 2003
Early Onset Dementia in Ataxia Associated with Ocular Apraxia Type 1 (AOA1).
Aikaterini AI et al.
Annals of Indian Academy of Neurology, 0