| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Craig L Bennett, Albert R La Spad. Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration. Advances in neurobiology. vol 20. 2018-10-25. PMID:29916023. |
genetic discoveries have established the importance of setx for neural function, as recessive mutations in the setx gene cause ataxia with oculomotor apraxia type 2 (aoa2) (omim: 606002), which is the third most common form of recessive ataxia, after friedreich's ataxia and ataxia-telangiectasia. |
2018-10-25 |
2023-08-13 |
Not clear |
| Christos Ganos, Jose Bra. Ataxia with oculomotor apraxia is associated with the DNA damage repair pathway. Movement disorders : official journal of the Movement Disorder Society. vol 32. issue 5. 2018-10-11. PMID:28276091. |
ataxia with oculomotor apraxia is associated with the dna damage repair pathway. |
2018-10-11 |
2023-08-13 |
Not clear |
| Mario Manto, Christiane S Hamp. Endocrine disorders and the cerebellum: from neurodevelopmental injury to late-onset ataxia. Handbook of clinical neurology. vol 155. 2018-10-01. PMID:29891071. |
disturbances of thyroid hormone may also impact on cerebellar ataxias of other origin, decompensating or aggravating the pre-existing ataxia manifesting with motor ataxia, oculomotor ataxia, and/or schmahmann syndrome. |
2018-10-01 |
2023-08-13 |
Not clear |
| Tahira N Choudry, David Hilton-Jones, Graham Lennox, Henry Houlde. Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. Practical neurology. vol 18. issue 1. 2018-08-20. PMID:29212862. |
ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. |
2018-08-20 |
2023-08-13 |
Not clear |
| Tahira N Choudry, David Hilton-Jones, Graham Lennox, Henry Houlde. Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. Practical neurology. vol 18. issue 1. 2018-08-20. PMID:29212862. |
after extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. |
2018-08-20 |
2023-08-13 |
Not clear |
| Sarah Cohen, Nadine Puget, Yea-Lih Lin, Thomas Clouaire, Marion Aguirrebengoa, Vincent Rocher, Philippe Pasero, Yvan Canitrot, Gaëlle Legub. Senataxin resolves RNA:DNA hybrids forming at DNA double-strand breaks to prevent translocations. Nature communications. vol 9. issue 1. 2018-05-09. PMID:29416069. |
ataxia with oculomotor apraxia 2 (aoa-2) and amyotrophic lateral sclerosis (als4) are neurological disorders caused by mutations in the gene encoding for senataxin (setx), a putative rna:dna helicase involved in transcription and in the maintenance of genome integrity. |
2018-05-09 |
2023-08-13 |
Not clear |
| Carlo Canepa, Ben Burton, Abdul Muhit. An elusive ciliopathy: Joubert syndrome. BMJ case reports. vol 2017. 2018-04-09. PMID:28667057. |
neurological examination revealed (1) cognitive impairment, (2) oculomotor apraxia, (3) abnormal cancellation of vestibular ocular reflex, (4) mild ataxia and (5) mild hypotonia. |
2018-04-09 |
2023-08-13 |
Not clear |
| Sarah Anne Cooper, Michael O'Sulliva. Here, there and everywhere: higher visual function and the dorsal visual stream. Practical neurology. vol 16. issue 3. 2018-03-29. PMID:26786007. |
here, we consider the dorsal stream disorders of perception (simultanagnosia, akinetopsia) along with their consequences on action (eg, optic ataxia and oculomotor apraxia, along with balint's syndrome). |
2018-03-29 |
2023-08-13 |
human |
| Nicoline Schiess, David S Zee, Khurram A Siddiqui, Miklos Szolics, Ayman W El-Hatta. Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4. Journal of neurogenetics. vol 31. issue 1-2. 2018-03-16. PMID:28552035. |
the phenotypic and genetic spectrum of ataxia with oculomotor apraxia (aoa) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. |
2018-03-16 |
2023-08-13 |
Not clear |
| Makito Hirano, Ryusuke Matsumura, Yusaku Nakamura, Kazumasa Saigoh, Hikaru Sakamoto, Shuichi Ueno, Hiroya Inoue, Susumu Kusunok. Unexpectedly mild phenotype in an ataxic family with a two-base deletion in the APTX gene. Journal of the neurological sciences. vol 378. 2018-03-14. PMID:28566184. |
early onset ataxia with ocular motor apraxia and hypoalbuminemia (eaoh)/ataxia with oculomotor apraxia 1 (aoa1) is an autosomal recessive disorder caused by mutations in the aptx gene. |
2018-03-14 |
2023-08-13 |
Not clear |
| Jingga Inlora, M Reza Sailani, Hamidreza Khodadadi, Ahmad Teymurinezhad, Shinichi Takahashi, Jonathan A Bernstein, Masoud Garshasbi, Michael P Snyde. Identification of a novel mutation in the Cold Spring Harbor molecular case studies. vol 3. issue 6. 2018-01-01. PMID:28652255. |
to this end, we conducted whole-exome sequencing (wes) on a large consanguineous iranian family with hereditary ataxia and oculomotor apraxia. |
2018-01-01 |
2023-08-13 |
Not clear |
| Saumitra Dey Choudhury, Ancy Vs, Zeeshan Mushtaq, Vimlesh Kuma. Altered translational repression of an RNA-binding protein, Elav by AOA2-causative Senataxin mutation. Synapse (New York, N.Y.). vol 71. issue 5. 2017-12-22. PMID:28245518. |
mutations in senataxin (setx) gene causes two types of neurological disorders, amyotrophic lateral sclerosis (als4) and ataxia with oculomotor apraxia type 2 (aoa2). |
2017-12-22 |
2023-08-13 |
human |
| Matthew D Benson, Patrick Ferreira, Ian M MacDonal. Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report. Ophthalmic genetics. vol 38. issue 1. 2017-11-13. PMID:27054461. |
oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: a case report. |
2017-11-13 |
2023-08-13 |
Not clear |
| Matthias Groh, Laura Oana Albulescu, Agnese Cristini, Natalia Groma. Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration. Journal of molecular biology. vol 429. issue 21. 2017-10-31. PMID:27771483. |
mutations in setx are linked to two neurodegenerative disorders: ataxia with oculomotor apraxia type 2 (aoa2) and amyotrophic lateral sclerosis type 4 (als4). |
2017-10-31 |
2023-08-13 |
Not clear |
| Claire Breslin, Rajam S Mani, Mesfin Fanta, Nicolas Hoch, Michael Weinfeld, Keith W Caldecot. The Rev1 interacting region (RIR) motif in the scaffold protein XRCC1 mediates a low-affinity interaction with polynucleotide kinase/phosphatase (PNKP) during DNA single-strand break repair. The Journal of biological chemistry. vol 292. issue 39. 2017-10-16. PMID:28821613. |
one of the most important interactions of xrcc1 is that with polynucleotide kinase/phosphatase (pnkp), a dual-function dna kinase/phosphatase that processes damaged dna termini and that, if mutated, results in ataxia with oculomotor apraxia 4 (aoa4) and microcephaly with early-onset seizures and developmental delay (mcsz). |
2017-10-16 |
2023-08-13 |
Not clear |
| C Tzoulis, Paweł Sztromwasser, Stefan Johansson, Ivar Otto Gjerde, Per Knappskog, L A Bindof. PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:27165045. |
this patient had the typical findings with cognitive dysfunction, peripheral neuropathy, cerebellar dysarthria, horizontal nystagmus, oculomotor apraxia, and severe truncal and appendicular ataxia. |
2017-09-26 |
2023-08-13 |
Not clear |
| Zeeshan Mushtaq, Saumitra Dey Choudhury, Sri Krishna Gangwar, Genny Orso, Vimlesh Kuma. Human Senataxin Modulates Structural Plasticity of the Neuromuscular Junction in Drosophila through a Neuronally Conserved TGFβ Signalling Pathway. Neuro-degenerative diseases. vol 16. issue 5-6. 2017-09-13. PMID:27197982. |
mutations in the human senataxin (hsetx) gene have been shown to cause two forms of neurodegenerative disorders - a dominant form called amyotrophic lateral sclerosis type 4 (als4) and a recessive form called ataxia with oculomotor apraxia type 2 (aoa2). |
2017-09-13 |
2023-08-13 |
human |
| Lavinia C Dumitrache, Peter J McKinno. Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease. Mechanisms of ageing and development. vol 161. issue Pt A. 2017-08-07. PMID:27125728. |
for example microcephaly with seizures (mcsz) results from various hypomorphic pnkp mutations, as does ataxia with oculomotor apraxia 4 (aoa4). |
2017-08-07 |
2023-08-13 |
human |
| Doreen Crawford, Annette Dearmu. Joubert syndrome. Nursing children and young people. vol 29. issue 5. 2017-07-20. PMID:28604212. |
named after the french doctor who first described this rare neurological condition, joubert syndrome is characterised by developmental delay, hypotonia, ataxia and oculomotor apraxia. |
2017-07-20 |
2023-08-13 |
Not clear |
| Santhosh Kumar Sariki, Pushpendra Kumar Sahu, Upendarrao Golla, Vikash Singh, Gajendra Kumar Azad, Raghuvir S Toma. Sen1, the homolog of human Senataxin, is critical for cell survival through regulation of redox homeostasis, mitochondrial function, and the TOR pathway in Saccharomyces cerevisiae. The FEBS journal. vol 283. issue 22. 2017-06-30. PMID:27718307. |
mutations in the senataxin gene, setx are known to cause the neurodegenerative disorders, ataxia with oculomotor apraxia type 2 (aoa2), and amyotrophic lateral sclerosis 4 (als4). |
2017-06-30 |
2023-08-13 |
human |