Associated Papers
Early-Onset Ataxia with Oculo-Motor Apraxia and Hypoalbuminemia - A Rare Case Report from South Indian Region.
Manivannan A et al.
Neurology India, 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
Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells.
Zheng J et al.
Nucleic Acids Research, 2019
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Tumbale P et al.
The Embo Journal, 2018
Unexpectedly mild phenotype in an ataxic family with a two-base deletion in the APTX gene.
Hirano M et al.
Journal of the Neurological Sciences, 2017
Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.
Saghazadeh A et al.
Acta Medica Iranica, 2017
Neurological disorders associated with DNA strand-break processing enzymes.
Jiang B 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
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
A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents.
Crimella C et al.
Human Mutation, 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
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.
Harris JL et al.
Human Molecular Genetics, 2009
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
Short half-lives of ataxia-associated aprataxin proteins in neuronal cells.
Hirano M et al.
Neuroscience Letters, 2007
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.
Takahashi T et al.
Nucleic Acids Research, 2007
Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities.
Kijas AW et al.
The Journal of Biological Chemistry, 2006
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
Seidle HF et al.
The Journal of Biological Chemistry, 2005
Loss of function mechanism in aprataxin-related early-onset ataxia.
Hirano M et al.
Biochemical and Biophysical Research Communications, 2004
Aprataxin, a novel protein that protects against genotoxic stress.
Gueven N et al.
Human Molecular Genetics, 2004
Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein.
Sano Y et al.
Annals of Neurology, 2004
[Mutation with yellow eyes in Musca domestica].
LA FACE L
Rendiconti - Istituto Superiore Di Sanita, 1956