دورية أكاديمية
Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis.
العنوان: | Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis. |
---|---|
المؤلفون: | Abramzon Y; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK. Electronic address: yevgeniya.abramzon@nih.gov., Dewan R; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA., Cortese A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Resnick S; Laboratory of Behavioral Neuroscience, National Institute on Aging, NIH, Baltimore, MD 21224, USA., Ferrucci L; Translational Gerontology Branch, National Institute on Aging, NIH, Baltimore, MD 21224, USA., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK., Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK; Neurology Department, Johns Hopkins University, Baltimore, MD 21205, USA. |
المصدر: | Journal of the neurological sciences [J Neurol Sci] 2021 Nov 15; Vol. 430, pp. 118061. Date of Electronic Publication: 2021 Aug 31. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: Amsterdam : Elsevier, <19 -> |
مواضيع طبية MeSH: | Amyotrophic Lateral Sclerosis*/genetics, C9orf72 Protein ; Cohort Studies ; DNA Repeat Expansion ; Humans ; Replication Protein C/genetics |
مستخلص: | A homozygous AAGGG repeat expansion within the RFC1 gene was recently described as a common cause of CANVAS syndrome. We examined 1069 sporadic ALS patients for the presence of this repeat expansion. We did not discover any carriers of the homozygous AAGGG expansion in our ALS cohort, indicating that this form of RFC1 repeat expansions is not a common cause of sporadic ALS. However, our study did identify a novel repeat conformation and further expanded on the highly polymorphic nature of the RFC1 locus. (Copyright © 2021 Elsevier B.V. All rights reserved.) |
References: | Genome Biol. 2019 Mar 19;20(1):58. (PMID: 30890163) Handb Clin Neurol. 2016;138:225-38. (PMID: 27637961) Lancet Neurol. 2012 Jan;11(1):54-65. (PMID: 22154785) Cochrane Database Syst Rev. 2012 Mar 14;(3):CD001447. (PMID: 22419278) Intractable Rare Dis Res. 2014 Nov;3(4):134-46. (PMID: 25606363) Mol Cell Biol. 2003 May;23(9):3031-42. (PMID: 12697806) Nat Genet. 2019 Apr;51(4):649-658. (PMID: 30926972) Ann Hum Genet. 2013 Sep;77(5):351-63. (PMID: 23845100) Int J Biochem Cell Biol. 2019 May;110:149-153. (PMID: 30904737) Brain. 2012 Mar;135(Pt 3):784-93. (PMID: 22366794) Neurobiol Aging. 2012 Aug;33(8):1848.e15-20. (PMID: 22418734) Nat Commun. 2016 Aug 11;7:12408. (PMID: 27510634) Neuron. 2011 Oct 20;72(2):257-68. (PMID: 21944779) Mol Neurodegener. 2018 Aug 21;13(1):46. (PMID: 30126445) Lancet Neurol. 2012 Apr;11(4):323-30. (PMID: 22406228) J Med Genet. 2012 Apr;49(4):258-63. (PMID: 22499346) Neurobiol Aging. 2018 Oct;70:325.e7-325.e15. (PMID: 29861044) Brain. 2012 Mar;135(Pt 3):751-64. (PMID: 22366792) Neurobiol Aging. 2012 Aug;33(8):1851.e1-5. (PMID: 22445326) J Clin Invest. 2018 Aug 1;128(8):3558-3567. (PMID: 30010620) Front Genet. 2019 Nov 22;10:1219. (PMID: 31824583) J Biol Chem. 2008 Apr 4;283(14):9071-9. (PMID: 18245774) Nat Neurosci. 2014 Jan;17(1):17-23. (PMID: 24369373) Prog Nucleic Acid Res Mol Biol. 2004;78:227-60. (PMID: 15210332) Lancet Neurol. 2017 Jul;16(7):505-512. (PMID: 28522181) |
معلومات مُعتمدة: | MR/T001712/1 United Kingdom MRC_ Medical Research Council; Z01 AG000949 United States ImNIH Intramural NIH HHS; Z99 AG999999 United States ImNIH Intramural NIH HHS; ZIA AG000933 United States ImNIH Intramural NIH HHS |
فهرسة مساهمة: | Keywords: ALS; Motor neuron disorders; RFC1 |
المشرفين على المادة: | 0 (C9orf72 Protein) EC 3.6.4.- (Replication Protein C) |
تواريخ الأحداث: | Date Created: 20210919 Date Completed: 20211116 Latest Revision: 20221116 |
رمز التحديث: | 20240628 |
مُعرف محوري في PubMed: | PMC9014296 |
DOI: | 10.1016/j.jns.2021.118061 |
PMID: | 34537679 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1878-5883 |
---|---|
DOI: | 10.1016/j.jns.2021.118061 |