| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Matthew S Miller, Alexander Rialdi, Jessica Sook Yuin Ho, Micah Tilove, Luis Martinez-Gil, Natasha P Moshkina, Zuleyma Peralta, Justine Noel, Camilla Melegari, Ana M Maestre, Panagiotis Mitsopoulos, Joaquín Madrenas, Sven Heinz, Chris Benner, John A T Young, Alicia R Feagins, Christopher F Basler, Ana Fernandez-Sesma, Olivier J Becherel, Martin F Lavin, Harm van Bakel, Ivan Marazz. Senataxin suppresses the antiviral transcriptional response and controls viral biogenesis. Nature immunology. vol 16. issue 5. 2015-07-10. PMID:25822250. |
the human helicase senataxin (setx) has been linked to the neurodegenerative diseases amyotrophic lateral sclerosis (als4) and ataxia with oculomotor apraxia (aoa2). |
2015-07-10 |
2023-08-13 |
human |
| Melike Çağlayan, Julie K Horton, Rajendra Prasad, Samuel H Wilso. Complementation of aprataxin deficiency by base excision repair enzymes. Nucleic acids research. vol 43. issue 4. 2015-07-02. PMID:25662216. |
here, using cell extracts from aptx-deficient cell lines, human ataxia with oculomotor apraxia type 1 (aoa1) and dt40 chicken b cell, we found that pol β and fen1 enzymatic activities were prominent and strong enough to complement aptx deficiency. |
2015-07-02 |
2023-08-13 |
human |
| Junya Kobayashi, Yuichiro Saito, Michiyo Okui, Noriko Miwa, Kenshi Komats. Increased oxidative stress in AOA3 cells disturbs ATM-dependent DNA damage responses. Mutation research. Genetic toxicology and environmental mutagenesis. vol 782. 2015-06-22. PMID:25868131. |
ataxia with oculomotor apraxia types 1-3 (aoa1, 2, and 3) result in a neurodegenerative and cellular phenotype similar to at; however, the basis of this phenotypic similarity is unclear. |
2015-06-22 |
2023-08-13 |
Not clear |
| Xin Chen, Ulrika Müller, Kaitlin E Sundling, David A Bro. Saccharomyces cerevisiae Sen1 as a model for the study of mutations in human Senataxin that elicit cerebellar ataxia. Genetics. vol 198. issue 2. 2015-06-17. PMID:25116135. |
guided by sequence homology between the conserved helicase domains of sen1 and senataxin, we tested the effects of 13 missense mutations that cosegregate with the inherited disorder ataxia with oculomotor apraxia type 2 on sen1 function. |
2015-06-17 |
2023-08-13 |
human |
| Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreir. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American journal of human genetics. vol 96. issue 3. 2015-05-12. PMID:25728773. |
mutations in pnkp cause recessive ataxia with oculomotor apraxia type 4. |
2015-05-12 |
2023-08-13 |
Not clear |
| Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreir. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American journal of human genetics. vol 96. issue 3. 2015-05-12. PMID:25728773. |
we used homozygosity mapping and exome sequencing to study a cohort of nine portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (aoa). |
2015-05-12 |
2023-08-13 |
Not clear |
| Bhavesh Trikamji, Nicholas Parziale, Nastaran Rafiei, Robert Freundlich, Shri Mishr. A case of an African American man with ataxia and oculomotor apraxia 2. Journal of clinical neuromuscular disease. vol 16. issue 1. 2015-05-11. PMID:25137517. |
a case of an african american man with ataxia and oculomotor apraxia 2. |
2015-05-11 |
2023-08-13 |
Not clear |
| Brent L Fogel, Ellen Cho, Amanda Wahnich, Fuying Gao, Olivier J Becherel, Xizhe Wang, Francesca Fike, Leslie Chen, Chiara Criscuolo, Giuseppe De Michele, Alessandro Filla, Abigail Collins, Angelika F Hahn, Richard A Gatti, Genevieve Konopka, Susan Perlman, Martin F Lavin, Daniel H Geschwind, Giovanni Coppol. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. Human molecular genetics. vol 23. issue 18. 2015-04-23. PMID:24760770. |
mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. |
2015-04-23 |
2023-08-13 |
mouse |
| Brent L Fogel, Ellen Cho, Amanda Wahnich, Fuying Gao, Olivier J Becherel, Xizhe Wang, Francesca Fike, Leslie Chen, Chiara Criscuolo, Giuseppe De Michele, Alessandro Filla, Abigail Collins, Angelika F Hahn, Richard A Gatti, Genevieve Konopka, Susan Perlman, Martin F Lavin, Daniel H Geschwind, Giovanni Coppol. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. Human molecular genetics. vol 23. issue 18. 2015-04-23. PMID:24760770. |
mutations in setx cause the recessive disorder ataxia with oculomotor apraxia type 2 (aoa2) and a dominant juvenile form of amyotrophic lateral sclerosis (als4). |
2015-04-23 |
2023-08-13 |
mouse |
| Ricardo H Roda, Carlo Rinaldi, Rajat Singh, Alice B Schindler, Craig Blackston. Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 21. issue 9. 2015-04-08. PMID:24814856. |
ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative dna damage. |
2015-04-08 |
2023-08-13 |
Not clear |
| Ricardo H Roda, Carlo Rinaldi, Rajat Singh, Alice B Schindler, Craig Blackston. Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 21. issue 9. 2015-04-08. PMID:24814856. |
ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive cerebellar ataxia associated with mutations in setx, which encodes the senataxin protein, a dna/rna helicase. |
2015-04-08 |
2023-08-13 |
Not clear |
| Chiara Vantaggiato, Orazio Cantoni, Andrea Guidarelli, Romina Romaniello, Andrea Citterio, Filippo Arrigoni, Chiara Doneda, Marianna Castelli, Giovanni Airoldi, Nereo Bresolin, Renato Borgatti, Maria Teresa Bass. Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents. Brain & development. vol 36. issue 8. 2015-03-04. PMID:24183476. |
homozygous and compound heterozygous mutations in setx are associated with aoa2 disease, a recessive form of ataxia with oculomotor apraxia and neuropathy with onset of ataxia between the first and second decade of life. |
2015-03-04 |
2023-08-12 |
Not clear |
| Abrey J Yeo, Olivier J Becherel, John E Luff, Jason K Cullen, Thidathip Wongsurawat, Piroon Jenjaroenpun, Piroon Jenjaroenpoon, Vladimir A Kuznetsov, Peter J McKinnon, Martin F Lavi. R-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxias. PloS one. vol 9. issue 3. 2015-01-06. PMID:24637776. |
disruption of the setx gene, defective in ataxia oculomotor apraxia type 2 (aoa2) leads to the accumulation of dna/rna hybrids (r-loops), failure of meiotic recombination and infertility in mice. |
2015-01-06 |
2023-08-12 |
mouse |
| So Won Park, Yoon Young Yi, Jung Woo Han, Heung Dong Kim, Joon Soo Lee, Hoon-Chul Kan. Wernicke's encephalopathy in a child with high dose thiamine therapy. Korean journal of pediatrics. vol 57. issue 11. 2014-12-31. PMID:25550705. |
wernicke's encephalopathy is an acute neurological disorder characterized by mental confusion, oculomotor dysfunction, and ataxia. |
2014-12-31 |
2023-08-13 |
Not clear |
| Francisco Cardos. Differential diagnosis of Huntington's disease: what the clinician should know. Neurodegenerative disease management. vol 4. issue 1. 2014-11-25. PMID:24640980. |
there are also autosomal-recessive choreas that can be hd phenocopies: friedreich's ataxia, neuroacanthocytosis, several forms of neurodegeneration with brain iron accumulation, ataxia telangiectasia, hd-like 3 and ataxia with oculomotor apraxia. |
2014-11-25 |
2023-08-12 |
Not clear |
| Jeong-Yoon Choi, Young-Min Park, Yeon Sun Woo, Sung Un Kim, Jin-Man Jung, Do-Young Kwo. Perverted head-shaking and positional downbeat nystagmus in pregabalin intoxication. Journal of the neurological sciences. vol 337. issue 1-2. 2014-10-06. PMID:24368013. |
dizziness and ataxia are known adverse effects of pregabalin, but characteristic oculomotor signs in pregabalin intoxication have not been reported. |
2014-10-06 |
2023-08-12 |
Not clear |
| Che-Piao Shen, Wei-Yong Lin, Ting-Fang Lin, Wen-Fu Wang, Chon-Haw Tsai, Ban-Dar Hsu, Chih-Yang Huang, Hsin-Ping Liu, Fuu-Jen Tsa. Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan. The Chinese journal of physiology. vol 57. issue 2. 2014-09-18. PMID:24694197. |
mutations in human senataxin (setx), an ortholog yeast protein of sen1, have been identified to cause the syndrome of ataxia with oculomotor apraxia type 2 (aoa2) and juvenile amyotrophic lateral sclerosis (als4), two types of progressive motor neuron degeneration. |
2014-09-18 |
2023-08-13 |
human |
| Craig L Bennett, Yingzhang Chen, Marissa Vignali, Russell S Lo, Amanda G Mason, Asli Unal, Nabiha P Huq Saifee, Stanley Fields, Albert R La Spad. Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide. PloS one. vol 8. issue 11. 2014-08-18. PMID:24244371. |
senataxin is a large 303 kda protein linked to neuron survival, as recessive mutations cause ataxia with oculomotor apraxia type 2 (aoa2), and dominant mutations cause amyotrophic lateral sclerosis type 4 (als4). |
2014-08-18 |
2023-08-12 |
human |
| Stefan Kipfer, Simon Jung, Johannes R Lemke, Anna Kipfer-Kauer, Jeremy P Howell, Alain Kaelin-Lang, Thomas Nyffeler, Klemens Gutbrod, Angela Abicht, René M Mür. Novel CACNA1A mutation(s) associated with slow saccade velocities. Journal of neurology. vol 260. issue 12. 2014-08-06. PMID:24046065. |
beside the growing number of descriptions of novel cacna1a mutations with episodic ataxia type 2 phenotype; there are only rare reports on interictal oculomotor signs other than nystagmus. |
2014-08-06 |
2023-08-12 |
Not clear |
| Martin F Lavin, Abrey J Yeo, Olivier J Bechere. Senataxin protects the genome: Implications for neurodegeneration and other abnormalities. Rare diseases (Austin, Tex.). vol 1. 2014-07-08. PMID:25003001. |
ataxia oculomotor apraxia type 2 (aoa2) is a rare autosomal recessive disorder characterized by cerebellar atrophy, peripheral neuropathy, loss of purkinje cells and elevated α-fetoprotein. |
2014-07-08 |
2023-08-13 |
mouse |