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
Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.
Saghazadeh A et al.
Acta Medica Iranica, 2017
Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.
Karimzadeh P et al.
Iranian Journal of Child Neurology, 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
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
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Castellotti B et al.
Neurogenetics, 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
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
Familial cognitive impairment with ataxia with oculomotor apraxia.
Mahajnah M et al.
Journal of Child Neurology, 2005
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Le Ber I et al.
Brain : a Journal of Neurology, 2003