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
Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.
Ngo KJ et al.
Molecular Medicine (cambridge, Mass.), 2025
Coenzyme Q10 deficiency disrupts lipid metabolism by altering cholesterol homeostasis in neurons.
Pesini A et al.
Free Radical Biology & Medicine, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.
Imarisio A et al.
Parkinsonism & Related Disorders, 2024
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI et al.
Genes, 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
Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.
Aguillon D et al.
Molecular Neurobiology, 2022
Correction to: Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.
Aguillon D et al.
Molecular Neurobiology, 2022
Autosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker.
Renaud M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome.
Pedroso JL et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H et al.
European Journal of Human Genetics : Ejhg, 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
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Tumbale P et al.
The Embo Journal, 2018
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Renaud M et al.
Jama Neurology, 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
Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.
Inlora J et al.
Cold Spring Harbor Molecular Case Studies, 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
A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1.
Manzoor H et al.
Journal of Clinical Neurology (seoul, Korea), 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
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D et al.
Mitochondrion, 2016
Longitudinal analysis of the neurological features of ataxia-telangiectasia.
Jackson TJ et al.
Developmental Medicine and Child Neurology, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
Mallaret M et al.
Journal of Neurology, 2016
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Garcia-Diaz B et al.
Human Molecular Genetics, 2015
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
Hamza W et al.
Bmc Medical Genetics, 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
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE et al.
Science Translational Medicine, 2014
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
Variation in base excision repair capacity.
Wilson DM et al.
Mutation Research, 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
Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.
D'Arrigo S et al.
Journal of Child Neurology, 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
Investigation of recessive ataxia loci in patients with young age of onset.
Zühlke C et al.
Neuropediatrics, 2007
Short half-lives of ataxia-associated aprataxin proteins in neuronal cells.
Hirano M et al.
Neuroscience Letters, 2007
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.
Le Ber I et al.
Neurology, 2007
Atypical presentation of ataxia-oculomotor apraxia type 1.
Shahwan A et al.
Developmental Medicine and Child Neurology, 2006
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
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