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Year Number of Results
1997 1
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2001 1
2003 1
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2006 2
2007 4
2008 2
2009 8
2010 3
2011 1
2012 2
2013 3
2014 6
2015 8
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68 results

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Page 1
R-loop-derived cytoplasmic RNA-DNA hybrids activate an immune response.
Crossley MP, Song C, Bocek MJ, Choi JH, Kousouros JN, Sathirachinda A, Lin C, Brickner JR, Bai G, Lans H, Vermeulen W, Abu-Remaileh M, Cimprich KA. Crossley MP, et al. Nature. 2023 Jan;613(7942):187-194. doi: 10.1038/s41586-022-05545-9. Epub 2022 Dec 21. Nature. 2023. PMID: 36544021 Free PMC article.
When nuclear R-loops were perturbed by depleting the RNA-DNA helicase senataxin (SETX) or the breast cancer gene BRCA1 (refs. (5-7)), we observed XPG- and XPF-dependent cytoplasmic hybrid formation. We identify their source as a subset of stable, overlapping nuclear hybrid …
When nuclear R-loops were perturbed by depleting the RNA-DNA helicase senataxin (SETX) or the breast cancer gene BRCA1 (refs. (5-7)), we …
Clinical Presentation of Ataxia-Telangiectasia.
Alyasin S, Esmaeilzadeh H, Ebrahimi N, Nabavizadeh SH, Nemati H. Alyasin S, et al. Arch Iran Med. 2019 Dec 1;22(12):682-686. Arch Iran Med. 2019. PMID: 31823618
BACKGROUND: Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In the present study, patients with ataxia-telangiectasia were followed to provide information regarding clinical and immunological features. ... …
BACKGROUND: Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In th …
More than ataxia - Movement disorders in ataxia-telangiectasia.
Teive HAG, Camargo CHF, Munhoz RP. Teive HAG, et al. Parkinsonism Relat Disord. 2018 Jan;46:3-8. doi: 10.1016/j.parkreldis.2017.12.009. Epub 2017 Dec 12. Parkinsonism Relat Disord. 2018. PMID: 29249681 Review.
Classically, AT is associated with cerebellar ataxia, oculocutaneous telangiectasia and oculomotor apraxia. The aim of this review is to describe the movement disorders observed in patients with AT. ...
Classically, AT is associated with cerebellar ataxia, oculocutaneous telangiectasia and oculomotor apraxia. The aim of this re …
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi A, Naushad SM, Lingappa L. Radha Rama Devi A, et al. Pediatr Neurol. 2020 May;106:43-49. doi: 10.1016/j.pediatrneurol.2020.01.012. Epub 2020 Feb 4. Pediatr Neurol. 2020. PMID: 32139166
BACKGROUND: Joubert syndrome and related disorders are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallmark for diagnos …
BACKGROUND: Joubert syndrome and related disorders are a group of ciliopathies characterized by mid-hindbrain malformation, developmental de …
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L. Desbats MA, et al. J Inherit Metab Dis. 2015 Jan;38(1):145-56. doi: 10.1007/s10545-014-9749-9. Epub 2014 Aug 5. J Inherit Metab Dis. 2015. PMID: 25091424 Review.
It involves defective ATP production and oxidative stress, but also an impairment of pyrimidine biosynthesis and increased apoptosis. CoQ(10) deficiency can also be observed in patients with defects unrelated to CoQ(10) biosynthesis, such as RC defects, multiple acyl-CoA d …
It involves defective ATP production and oxidative stress, but also an impairment of pyrimidine biosynthesis and increased apoptosis. CoQ(10 …
SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation.
Richard P, Feng S, Tsai YL, Li W, Rinchetti P, Muhith U, Irizarry-Cole J, Stolz K, Sanz LA, Hartono S, Hoque M, Tadesse S, Seitz H, Lotti F, Hirano M, Chédin F, Tian B, Manley JL. Richard P, et al. Autophagy. 2021 Aug;17(8):1889-1906. doi: 10.1080/15548627.2020.1796292. Epub 2020 Aug 7. Autophagy. 2021. PMID: 32686621 Free PMC article.
SETX dominant mutations result in a juvenile form of amyotrophic lateral sclerosis (ALS) called ALS4, whereas recessive mutations are responsible for ataxia called ataxia with oculomotor apraxia type 2 (AOA2). How mutations in the same protein can lead to different …
SETX dominant mutations result in a juvenile form of amyotrophic lateral sclerosis (ALS) called ALS4, whereas recessive mutations are respon …
Oculomotor deficits affect neuropsychological performance in oculomotor apraxia type 2.
Clausi S, De Luca M, Chiricozzi FR, Tedesco AM, Casali C, Molinari M, Leggio MG. Clausi S, et al. Cortex. 2013 Mar;49(3):691-701. doi: 10.1016/j.cortex.2012.02.007. Epub 2012 Mar 6. Cortex. 2013. PMID: 22480402
INTRODUCTION: Ataxia with oculomotor apraxia type 2 is a rare and early-disabling neurodegenerative disease, part of a subgroup of autosomal recessive cerebellar ataxia, in which oculomotor symptoms (e.g., increased saccade latency and hypometria) and executive func …
INTRODUCTION: Ataxia with oculomotor apraxia type 2 is a rare and early-disabling neurodegenerative disease, part of a subgrou …
Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.
Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonça P, Barros J, Coutinho P, Sequeiros J, Koenig M. Moreira MC, et al. Am J Hum Genet. 2001 Feb;68(2):501-8. doi: 10.1086/318191. Epub 2001 Jan 22. Am J Hum Genet. 2001. PMID: 11170899 Free PMC article.
Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia, ocular apraxia, early areflexia, late peripheral neuropathy, slow progression, severe motor handicap, and absence of both telangiectasias and immunodeficiency. ...Early-onset cer …
Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia, ocular apraxia, early areflexia, late …
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
Criscuolo C, Chessa L, Di Giandomenico S, Mancini P, Saccà F, Grieco GS, Piane M, Barbieri F, De Michele G, Banfi S, Pierelli F, Rizzuto N, Santorelli FM, Gallosti L, Filla A, Casali C. Criscuolo C, et al. Neurology. 2006 Apr 25;66(8):1207-10. doi: 10.1212/01.wnl.0000208402.10512.4a. Neurology. 2006. PMID: 16636238
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. ...Four different ho …
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atr …
Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2.
Kanagaraj R, Mitter R, Kantidakis T, Edwards MM, Benitez A, Chakravarty P, Fu B, Becherel O, Yang F, Lavin MF, Koren A, Stewart A, West SC. Kanagaraj R, et al. Proc Natl Acad Sci U S A. 2022 Jan 25;119(4):e2114314119. doi: 10.1073/pnas.2114314119. Proc Natl Acad Sci U S A. 2022. PMID: 35042798 Free PMC article.
Mutations in the SETX gene, which encodes Senataxin, are associated with the progressive neurodegenerative diseases ataxia with oculomotor apraxia 2 (AOA2) and amyotrophic lateral sclerosis 4 (ALS4). ...A genome-wide increase in chromosome instability (gains and los …
Mutations in the SETX gene, which encodes Senataxin, are associated with the progressive neurodegenerative diseases ataxia with oculomoto …
68 results