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Tytuł pozycji:

TBK1 is associated with ALS and ALS-FTD in Sardinian patients.

Tytuł :
TBK1 is associated with ALS and ALS-FTD in Sardinian patients.
Autorzy :
Borghero G; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Pugliatti M; Department of Biomedical and Surgical Sciences, Section of Neurological, Psychiatric and Psychological Sciences, University of Ferrara, Ferrara, Italy.
Marrosu F; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Marrosu MG; Department of Medical Sciences, Multiple Sclerosis Center, University of Cagliari, Cagliari, Italy.
Murru MR; Department of Medical Sciences, Multiple Sclerosis Center, University of Cagliari, Cagliari, Italy.
Floris G; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Cannas A; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Occhineri P; Department of Biomedical and Surgical Sciences, Section of Neurological, Psychiatric and Psychological Sciences, University of Ferrara, Ferrara, Italy.
Cau TB; Azienda Sanitaria Locale n. 2, Olbia-Tempio, Olbia, Italy.
Loi D; Azienda Sanitaria Locale n. 2, Olbia-Tempio, Olbia, Italy.
Ticca A; Department of Neurology, Azienda Ospedaliera San Francesco, Nuoro, Italy.
Traccis S; Department of Neurology, Ospedale Antonio Segni, Ozieri, Italy.
Manera U; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy.
Canosa A; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, University of Genoa, Genoa, Italy.
Moglia C; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy.
Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy.
Barberis M; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy.
Brunetti M; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy.
Gibbs JR; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy.
Renton AE; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA.
Errichiello E; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy.
Zoledziewska M; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA; Computational Biology Core, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy.
Mulas A; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy.
Qian Y; Laboratory of Genetics, National Institute on Aging, NIH, Baltimore, MD, USA.
Din J; Laboratory of Genetics, National Institute on Aging, NIH, Baltimore, MD, USA.
Pliner HA; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA.
Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA; Department of Neurology, Brain Science Institute, Johns Hopkins University, Baltimore, MD, USA.
Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy; Institute of Cognitive Sciences and Technologies, Consiglio Nazionale delle Ricerche, Rome, Italy. Electronic address: .
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Corporate Authors :
ITALSGEN and SARDINALS Consortia
Źródło :
Neurobiology of aging [Neurobiol Aging] 2016 Jul; Vol. 43, pp. 180.e1-5. Date of Electronic Publication: 2016 Apr 09.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Język :
English
Imprint Name(s) :
Publication: New York : Elsevier
Original Publication: Fayetteville, N.Y. : Ankho International.
MeSH Terms :
Genetic Association Studies*
Mutation*
Protein-Serine-Threonine Kinases*
Amyotrophic Lateral Sclerosis/*genetics
Frontotemporal Dementia/*genetics
Aged ; Cohort Studies ; Female ; Humans ; Italy ; Male
Grant Information :
Z01 AG000949 United States AG NIA NIH HHS
Contributed Indexing :
Investigator: FO Logullo; I Simone; G Logroscino; F Salvi; I Bartolomei; M Capasso; C Caponnetto; P Mandich; G Mancardi; P Origone; FL Conforti; G Vita; S Messina; M Russo; G Mora; K Marinou; R Sideri; C Lunetta; S Penco; L Mosca; GL Pinter; M Corbo; N Riva; P Carrera; P Volanti; L Tremolizzo; C Ferrarese; N Fini; A Fasano; MR Monsurrò; G Tedeschi; F Trojsi; G Piccirillo; V Cristillo; L Mazzini; S D'Alfonso; A Bersano; L Corrado; A Bagarotti; V La Bella; R Spataro; T Colletti; M Sabatelli; M Zollino; A Conte; M Luigetti; S Lattante; G Marangi; M Santarelli; A Petrucci; F Giannini; S Battistini; C Ricci; M Benigni; G Restagno; F Casale; G Marrali; G Fuda; I Ossola; S Cammarosano; A Ilardi; D Bertuzzo; R Tanel; F Pisano; E Costantino; C Pani; R Puddu; C Caredda; V Piras; S Tranquilli; S Cuccu; D Corongiu; M Melis; A Milia; A Pirisi; LD Parish; E Ortu
Keywords: Amyotrophic lateral sclerosis*; Genetics*; Sporadic*; TBK1*
Substance Nomenclature :
EC 2.7.11.1 (Protein-Serine-Threonine Kinases)
EC 2.7.11.1 (TBK1 protein, human)
SCR Disease Name :
Frontotemporal Dementia With Motor Neuron Disease
Entry Date(s) :
Date Created: 20160509 Date Completed: 20170919 Latest Revision: 20171211
Update Code :
20210914
DOI :
10.1016/j.neurobiolaging.2016.03.028
PMID :
27156075
Czasopismo naukowe
Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia. We have assessed the frequency and clinical characteristics of TBK1 mutations in a cohort of ALS patients of Sardinian ancestry. Whole-exome sequencing was performed on Hiseq2000 platform (Illumina). Genome analysis Toolkit was used to align and to code variants according to Human Genome (UCSC hg19). Mutation was confirmed with Sanger sequence. In our screening of 186 Sardinian ALS cases, we found 3 (1.6%) patients carrying 3 distinct novel genetic variants: a nonsynonymous SNV c.1150C>T leading to a p.Arg384Thr change in exon 9; a nonsynonymous SNV c.1331G>A causes a p.Arg444Gln change in exon 11; and a frameshift deletion c.2070delG (p.Met690fs) at the exon 20 of the gene leading to a stop at 693 codon. The latter patients also carried missense mutation c.98C>T of the SQSTM1 gene causing a substitution of an arginine with a valine at the position 33 (p.Arg33Val). All variants were found to be deleterious according to in silico predictions. All cases were apparently sporadic and one of them showed frontotemporal dementia associated to ALS. These mutations were not found in 2 cohorts of 6780 ethnic-matched controls. We have found that TBK1 mutations account for 1.6% of Sardinian ALS cases. Our data support the notion that TBK1 is a novel ALS gene, providing important evidence complementary to the first descriptions.
(Copyright © 2016 Elsevier Inc. All rights reserved.)

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