Assessing the role of TUBA4A gene in frontotemporal degeneration

Oriol Dols-Icardo; Oriol Iborra; Jessica Valdivia; Pau Pastor; Agustín Ruiz; Adolfo López de Munain; Raquel Sánchez-Valle; Victoria Álvarez; Pascual Sánchez-Juan; Alberto Lleó; Juan Fortea; Rafael Blesa; Fernando Cardona; Miquel Baquero; María Dolores Alonso; Sara Ortega-Cubero; María A. Pastor; Cristina Razquin; Mercè Boada; Isabel Hernández; Ana Gorostidi; Fermín Moreno; Miren Zulaika; Albert Lladó; Eliecer Coto; Onofre Combarros; Jordi Pérez-Tur; Jordi Clarimón

doi:10.1016/j.neurobiolaging.2015.10.030

Assessing the role of TUBA4A gene in frontotemporal degeneration

Oriol Dols-Icardo, Oriol Iborra, Jessica Valdivia, Pau Pastor, Agustín Ruiz, Adolfo López de Munain, Raquel Sánchez-Valle, Victoria Álvarez, Pascual Sánchez-Juan, Alberto Lleó, Juan Fortea, Rafael Blesa, Fernando Cardona, Miquel Baquero, María Dolores Alonso, Sara Ortega-Cubero, María A. Pastor, Cristina Razquin, Mercè Boada, Isabel HernándezAna Gorostidi, Fermín Moreno, Miren Zulaika, Albert Lladó, Eliecer Coto, Onofre Combarros, Jordi Pérez-Tur, Jordi Clarimón^*

^*Autor corresponent d’aquest treball

Departament de Medicina

Hospital Universitario Donostia

Producció científica: Contribució a revista › Article › Recerca › Avaluat per experts

10 Cites (Scopus)

Resum

© 2016 Elsevier Inc. 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.

Idioma original	Anglès
Pàgines (de-a)	215.e13-215.e14
Revista	Neurobiology of Aging
Volum	38
DOIs	https://doi.org/10.1016/j.neurobiolaging.2015.10.030
Estat de la publicació	Publicada - 1 de gen. 2016

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10.1016/j.neurobiolaging.2015.10.030

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Dols-Icardo, O., Iborra, O., Valdivia, J., Pastor, P., Ruiz, A., de Munain, A. L., Sánchez-Valle, R., Álvarez, V., Sánchez-Juan, P., Lleó, A., Fortea, J., Blesa, R., Cardona, F., Baquero, M., Alonso, M. D., Ortega-Cubero, S., Pastor, M. A., Razquin, C., Boada, M., ... Clarimón, J. (2016). Assessing the role of TUBA4A gene in frontotemporal degeneration. Neurobiology of Aging, 38, 215.e13-215.e14. https://doi.org/10.1016/j.neurobiolaging.2015.10.030

@article{cdbf9c5c04684b049db25359bc67baaa,

title = "Assessing the role of TUBA4A gene in frontotemporal degeneration",

abstract = "{\textcopyright} 2016 Elsevier Inc. 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.",

keywords = "Amyotrophic lateral sclerosis, Frontotemporal degeneration, Genetics, TUBA4A",

author = "Oriol Dols-Icardo and Oriol Iborra and Jessica Valdivia and Pau Pastor and Agust{\'i}n Ruiz and {de Munain}, {Adolfo L{\'o}pez} and Raquel S{\'a}nchez-Valle and Victoria {\'A}lvarez and Pascual S{\'a}nchez-Juan and Alberto Lle{\'o} and Juan Fortea and Rafael Blesa and Fernando Cardona and Miquel Baquero and Alonso, {Mar{\'i}a Dolores} and Sara Ortega-Cubero and Pastor, {Mar{\'i}a A.} and Cristina Razquin and Merc{\`e} Boada and Isabel Hern{\'a}ndez and Ana Gorostidi and Ferm{\'i}n Moreno and Miren Zulaika and Albert Llad{\'o} and Eliecer Coto and Onofre Combarros and Jordi P{\'e}rez-Tur and Jordi Clarim{\'o}n",

year = "2016",

month = jan,

day = "1",

doi = "10.1016/j.neurobiolaging.2015.10.030",

language = "English",

volume = "38",

pages = "215.e13--215.e14",

journal = "Neurobiology of Aging",

issn = "0197-4580",

publisher = "Elsevier Inc.",

}

Dols-Icardo, O, Iborra, O, Valdivia, J, Pastor, P, Ruiz, A, de Munain, AL, Sánchez-Valle, R, Álvarez, V, Sánchez-Juan, P, Lleó, A, Fortea, J, Blesa, R, Cardona, F, Baquero, M, Alonso, MD, Ortega-Cubero, S, Pastor, MA, Razquin, C, Boada, M, Hernández, I, Gorostidi, A, Moreno, F, Zulaika, M, Lladó, A, Coto, E, Combarros, O, Pérez-Tur, J & Clarimón, J 2016, 'Assessing the role of TUBA4A gene in frontotemporal degeneration', Neurobiology of Aging, vol. 38, pàg. 215.e13-215.e14. https://doi.org/10.1016/j.neurobiolaging.2015.10.030

TY - JOUR

T1 - Assessing the role of TUBA4A gene in frontotemporal degeneration

AU - Dols-Icardo, Oriol

AU - Iborra, Oriol

AU - Valdivia, Jessica

AU - Pastor, Pau

AU - Ruiz, Agustín

AU - de Munain, Adolfo López

AU - Sánchez-Valle, Raquel

AU - Álvarez, Victoria

AU - Sánchez-Juan, Pascual

AU - Lleó, Alberto

AU - Fortea, Juan

AU - Blesa, Rafael

AU - Cardona, Fernando

AU - Baquero, Miquel

AU - Alonso, María Dolores

AU - Ortega-Cubero, Sara

AU - Pastor, María A.

AU - Razquin, Cristina

AU - Boada, Mercè

AU - Hernández, Isabel

AU - Gorostidi, Ana

AU - Moreno, Fermín

AU - Zulaika, Miren

AU - Lladó, Albert

AU - Coto, Eliecer

AU - Combarros, Onofre

AU - Pérez-Tur, Jordi

AU - Clarimón, Jordi

PY - 2016/1/1

Y1 - 2016/1/1

N2 - © 2016 Elsevier Inc. 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.

AB - © 2016 Elsevier Inc. 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.

KW - Amyotrophic lateral sclerosis

KW - Frontotemporal degeneration

KW - Genetics

KW - TUBA4A

U2 - 10.1016/j.neurobiolaging.2015.10.030

DO - 10.1016/j.neurobiolaging.2015.10.030

M3 - Article

SN - 0197-4580

VL - 38

SP - 215.e13-215.e14

JO - Neurobiology of Aging

JF - Neurobiology of Aging

ER -

Assessing the role of TUBA4A gene in frontotemporal degeneration

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