Assessing the role of TUBA4A gene in frontotemporal degeneration
Por:
Dols-Icardo, O, Iborra, O, Valdivia, J, Pastor, P, Ruiz, A, de Munain, AL, Sanchez-Valle, R, Alvarez, V, Sanchez-Juan, P, Lleo, A, Fortea, J, Blesa, R, Cardona, F, Baquero, M, Alonso, MD, Ortega-Cubero, S, Pastor, MA, Razquin, C, Boada, M, Hernandez, I, Gorostidi, A, Moreno, F, Zulaika, M, Llado, A, Coto, E, Combarros, O, Perez-Tur, J, Clarimon, J
Publicada:
1 feb 2016
Resumen:
The tubulin alpha 4a (TUBA4A) gene has been recently associated with amyotrophic lateral sclerosis. Interestingly, some of the mutation carriers were also diagnosed with frontotemporal degeneration (FTD) or mild cognitive impairment. With the aim to investigate the role of TUBA4A in FTD, we screened TUBA4A in a series of 814 FTD patients from Spain. Our data did not disclose any nonsense or missense variant in the cohort, thus suggesting that TUBA4A mutations are not associated with FTD. (C) 2016 Elsevier Inc. All rights reserved.
Filiaciones:
Dols-Icardo, O:
Univ Autonoma Barcelona, Memory Unit, Dept Neurol, E-08193 Barcelona, Spain
Univ Autonoma Barcelona, Sant Pau Biomed Res Inst, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, Spain
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Iborra, O:
Univ Autonoma Barcelona, Memory Unit, Dept Neurol, E-08193 Barcelona, Spain
Univ Autonoma Barcelona, Sant Pau Biomed Res Inst, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, Spain
Valdivia, J:
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Inst Biomed Valencia CSIC, Mol Genet Unit, Valencia, Spain
Pastor, P:
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Univ Barcelona, Sch Med, Univ Hosp Mutua Terrassa, Dept Neurol,Memory Unit, Barcelona, Spain
Univ Barcelona, Sch Med, Univ Hosp Mutua Terrassa, Dept Neurol,Movement Disorders Unit, Barcelona, Spain
Univ Navarra, Sch Med, Neurogenet Lab, Div Neurosci,Ctr Appl Med Res CIMA, E-31080 Pamplona, Spain
Ruiz, A:
Inst Catala Neurociencies Aplicades, Fundacio ACE, Alzheimer Res Ctr, Barcelona, Spain
Inst Catala Neurociencies Aplicades, Fundacio ACE, Memory Clin, Barcelona, Spain
de Munain, AL:
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Univ Basque Contry EHU UPV, Inst Biodonostia, Neurosci Area, San Sebastian, Spain
Univ Basque Contry EHU UPV, Dept Neurosci, San Sebastian, Spain
Sanchez-Valle, R:
Inst Invest Biomed August Pi & Sunyer, Hosp Clin, Alzheimers Dis & Other Cognit Disorders Unit, Barcelona, Spain
Alvarez, V:
Hosp Univ Cent Asturias, AGC Med Lab, Genet Lab, Oviedo, Spain
Sanchez-Juan, P:
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Univ Hosp Marques de Valdecilla, Inst Invest Marques de Valdecilla IDIVAL, Dept Neurol, Santander, Spain
Lleo, A:
Univ Autonoma Barcelona, Memory Unit, Dept Neurol, E-08193 Barcelona, Spain
Univ Autonoma Barcelona, Sant Pau Biomed Res Inst, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, Spain
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Fortea, J:
Univ Autonoma Barcelona, Memory Unit, Dept Neurol, E-08193 Barcelona, Spain
Univ Autonoma Barcelona, Sant Pau Biomed Res Inst, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, Spain
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Blesa, R:
Univ Autonoma Barcelona, Memory Unit, Dept Neurol, E-08193 Barcelona, Spain
Univ Autonoma Barcelona, Sant Pau Biomed Res Inst, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, Spain
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Cardona, F:
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Inst Biomed Valencia CSIC, Mol Genet Unit, Valencia, Spain
Inst Invest Sanitaria La Fe, Neurol & Mol Genet Mixed Invest Unit, Valencia, Spain
Baquero, M:
Inst Invest Sanitaria La Fe, Neurol & Mol Genet Mixed Invest Unit, Valencia, Spain
La Fe Univ & Polytech Hosp, Dept Neurol, Valencia, Spain
Alonso, MD:
Hosp Clin Univ, Dept Neurol, Valencia, Spain
Ortega-Cubero, S:
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Univ Navarra, Sch Med, Neurogenet Lab, Div Neurosci,Ctr Appl Med Res CIMA, E-31080 Pamplona, Spain
Pastor, MA:
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Univ Navarra, Ctr Appl Med Res CIMA, Div Neurosci, Neuroimaging Lab, E-31080 Pamplona, Spain
Univ Navarra, Sch Med, Clin Univ Navarra, Dept Neurol, E-31080 Pamplona, Spain
Razquin, C:
Univ Navarra, Sch Med, Ctr Appl Med Res CIMA, Neurogenet Lab,Div Neurosci, E-31080 Pamplona, Spain
Boada, M:
Inst Catala Neurociencies Aplicades, Fundacio ACE, Alzheimer Res Ctr, Barcelona, Spain
Inst Catala Neurociencies Aplicades, Fundacio ACE, Memory Clin, Barcelona, Spain
Hernandez, I:
Inst Catala Neurociencies Aplicades, Fundacio ACE, Alzheimer Res Ctr, Barcelona, Spain
Inst Catala Neurociencies Aplicades, Fundacio ACE, Memory Clin, Barcelona, Spain
Gorostidi, A:
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Univ Basque Contry EHU UPV, Inst Biodonostia, Neurosci Area, San Sebastian, Spain
Univ Basque Contry EHU UPV, Dept Neurosci, San Sebastian, Spain
Moreno, F:
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Univ Basque Contry EHU UPV, Inst Biodonostia, Neurosci Area, San Sebastian, Spain
Univ Basque Contry EHU UPV, Dept Neurosci, San Sebastian, Spain
Zulaika, M:
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Univ Basque Contry EHU UPV, Inst Biodonostia, Neurosci Area, San Sebastian, Spain
Univ Basque Contry EHU UPV, Dept Neurosci, San Sebastian, Spain
Llado, A:
Inst Invest Biomed August Pi & Sunyer, Hosp Clin, Alzheimers Dis & Other Cognit Disorders Unit, Barcelona, Spain
Coto, E:
Hosp Univ Cent Asturias, AGC Med Lab, Genet Lab, Oviedo, Spain
Combarros, O:
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Univ Hosp Marques de Valdecilla, Inst Invest Marques de Valdecilla IDIVAL, Dept Neurol, Santander, Spain
Perez-Tur, J:
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Inst Biomed Valencia CSIC, Mol Genet Unit, Valencia, Spain
Inst Invest Sanitaria La Fe, Neurol & Mol Genet Mixed Invest Unit, Valencia, Spain
Clarimon, J:
Univ Autonoma Barcelona, Memory Unit, Dept Neurol, E-08193 Barcelona, Spain
Univ Autonoma Barcelona, Sant Pau Biomed Res Inst, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, Spain
Ctr Networked Biomed Res Neurodegenerat Dis, CIBERNED, Madrid, Spain
Green Accepted
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