Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Early-Onset Ataxia with Oculo-Motor Apraxia and Hypoalbuminemia - A Rare Case Report from South Indian Region.
Manivannan A et al.
Neurology India, 2025
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
Novis LE et al.
Parkinsonism & Related Disorders, 2024
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim MJ et al.
Annals of Laboratory Medicine, 2023
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
Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.
da Graça FF et al.
Cerebellum (london, England), 2022
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Kim M et al.
Parkinsonism & Related Disorders, 2020
Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents.
Ababneh NA et al.
Plos One, 2020
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
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
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
Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.
Karimzadeh P et al.
Iranian Journal of Child Neurology, 2017
Slow mitochondrial repair of 5'-AMP renders mtDNA susceptible to damage in APTX deficient cells.
Akbari M et al.
Scientific Reports, 2015
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
Schellenberg MJ et al.
Progress in Biophysics and Molecular Biology, 2015
Complementation of aprataxin deficiency by base excision repair enzymes.
Çağlayan M et al.
Nucleic Acids Research, 2015
Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.
Tumbale P et al.
Nature, 2014
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
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
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
Bohlega SA et al.
Bmc Medical Genetics, 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
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
Le Ber I et al.
Current Neurology and Neuroscience Reports, 2005
Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.
Ito A et al.
Pediatric 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
Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype.
Criscuolo C et al.
Neurology, 2004
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
Phenotypic variability of aprataxin gene mutations.
Tranchant C et al.
Neurology, 2003
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
Moreira MC et al.
Nature Genetics, 2001
[Mutation with yellow eyes in Musca domestica].
LA FACE L
Rendiconti - Istituto Superiore Di Sanita, 1956