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Your search keyword '"Barbosa I.A."' showing total 8 results
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8 results on '"Barbosa I.A."'

1. Core binding factor leukemia hijacks T-cell prone PU.1 antisense promoter

Author

van der Kouwe, E., primary, Heller, G., additional, Czibere, A., additional, Castilla, L.H., additional, Delwel, R., additional, Di Ruscio, A., additional, Ebralidze, A.K., additional, Forte, M., additional, Kazianka, L., additional, Kornauth, C., additional, Le, T., additional, Lind, K., additional, Monteiro Barbosa, I.A., additional, Pichler, A., additional, Pulikkan, J.A., additional, Schmolke, A-S, additional, Sill, H., additional, Sperr, W.R., additional, Spittler, A., additional, Trinh, B. Q., additional, Valent, P., additional, Vanura, K., additional, Welner, R.S., additional, Zuber, J., additional, Tenen, D.G., additional, and Staber, P.B., additional

Published
2020
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2. Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

Author

Billingsley K.J., Barbosa I.A., Bandrés-Ciga S., Quinn J.P., Bubb V.J., Deshpande C., Botia J.A., Reynolds R.H., Zhang D., Simpson M.A., Blauwendraat C., Gan-Or Z., Gibbs J.R., Nalls M.A., Singleton A., Noyce A., Tucci A., Middlehurst B., Kia D., Tan M., Houlden H., Morris H.R., Plun-Favreau H., Holmans P., Hardy J., Trabzuni D., Bras J., Mok K., Kinghorn K., Wood N., Lewis P., Guerreiro R., Lovering R., R’Bibo L., Rizig M., Escott-Price V., Chelban V., Foltynie T., Williams N., Brice A., Danjou F., Lesage S., Martinez M., Giri A., Schulte C., Brockmann K., Simón-Sánchez J., Heutink P., Rizzu P., Sharma M., Gasser T., Nicolas A., Cookson M., Faghri F., Hernandez D., Shulman J., Robak L., Lubbe S., Finkbeiner S., Mencacci N., Lungu C., Scholz S., Reed X., Leonard H., Rouleau G., Krohan L., van Hilten J., Marinus J., Adarmes-Gómez A., Aguilar M., Alvarez I., Alvarez V., Javier Barrero F., Bergareche Yarza J., Bernal-Bernal I., Blazquez M., Bernal M.B.-T., Boungiorno M., Buiza-Rueda D., Cámara A., Carcel M., Carrillo F., Carrión-Claro M., Cerdan D., Clarimón J., Compta Y., Diez-Fairen M., Dols-Icardo O., Duarte J., Duran R., Escamilla-Sevilla F., Ezquerra M., Fernández M., Fernández-Santiago R., Garcia C., García-Ruiz P., Gómez-Garre P., Heredia M.G., Gonzalez-Aramburu I., Pagola A.G., Hoenicka J., Infante J., Jesús S., Jimenez-Escrig A., Kulisevsky J., Labrador-Espinosa M., Lopez-Sendon J., de Munain Arregui A.L., Macias D., Torres I.M., Marín J., Marti M.J., Martínez-Castrillo J., Méndez-del-Barrio C., Menéndez González M., Mínguez A., Mir P., Rezola E.M., Muñoz E., Pagonabarraga J., Pastor P., Errazquin F.P., Periñán-Tocino T., Ruiz-Martínez J., Ruz C., Rodriguez A.S., Sierra M., Suarez-Sanmartin E., Tabernero C., Tartari J.P., Tejera-Parrado C., Tolosa E., Valldeoriola F., Vargas-González L., Vela L., Vives F., Zimprich A., Pihlstrom L., Taba P., Majamaa K., Siitonen A., Okubadejo N., Ojo O., Ryten M., and Koks S.

Subjects
genotype, Mendelian randomization analysis, CLN8 gene, MUC1 gene, genetic analysis, bioenergy, genetic risk, genetic risk score, Article, ATG14 gene, disorders of mitochondrial functions, MRPS34 gene, degenerative disease, mitochondrial gene, EP300 gene, gene mutation, human, MPI gene, gene, molecular phylogeny, LMBRD1 gene, genome-wide association study, monogenic disorder, mitochondrial dynamics, Parkinson disease, E2F1 gene, mitophagy, CAPRIN2 gene, priority journal, risk factor, LGALS3 gene, disease exacerbation, gene expression, gene ontology, meta analysis
Abstract

Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson’s disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully established. Here, we comprehensively assessed the role of mitochondrial function-associated genes in sporadic PD by leveraging improvements in the scale and analysis of PD GWAS data with recent advances in our understanding of the genetics of mitochondrial disease. We calculated a mitochondrial-specific polygenic risk score (PRS) and showed that cumulative small effect variants within both our primary and secondary gene lists are significantly associated with increased PD risk. We further reported that the PRS of the secondary mitochondrial gene list was significantly associated with later age at onset. Finally, to identify possible functional genomic associations we implemented Mendelian randomization, which showed that 14 of these mitochondrial function-associated genes showed functional consequence associated with PD risk. Further analysis suggested that the 14 identified genes are not only involved in mitophagy, but implicate new mitochondrial processes. Our data suggests that therapeutics targeting mitochondrial bioenergetics and proteostasis pathways distinct from mitophagy could be beneficial to treating the early stage of PD. © 2019, The Author(s).

Published
2019

3. Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

Author

Billingsley, K.J., Barbosa, I.A., Bandrés-Ciga, S., Quinn, J.P., Bubb, V.J., Deshpande, C., Botia, J.A., Reynolds, R.H., Zhang, D., Simpson, M.A., Blauwendraat, C., Gan-Or, Z., Gibbs, J.R., Nalls, M.A., Singleton, A., Ryten, M., Kõks, S., Billingsley, K.J., Barbosa, I.A., Bandrés-Ciga, S., Quinn, J.P., Bubb, V.J., Deshpande, C., Botia, J.A., Reynolds, R.H., Zhang, D., Simpson, M.A., Blauwendraat, C., Gan-Or, Z., Gibbs, J.R., Nalls, M.A., Singleton, A., Ryten, M., and Kõks, S.

Abstract

Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson’s disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully established. Here, we comprehensively assessed the role of mitochondrial function-associated genes in sporadic PD by leveraging improvements in the scale and analysis of PD GWAS data with recent advances in our understanding of the genetics of mitochondrial disease. We calculated a mitochondrial-specific polygenic risk score (PRS) and showed that cumulative small effect variants within both our primary and secondary gene lists are significantly associated with increased PD risk. We further reported that the PRS of the secondary mitochondrial gene list was significantly associated with later age at onset. Finally, to identify possible functional genomic associations we implemented Mendelian randomization, which showed that 14 of these mitochondrial function-associated genes showed functional consequence associated with PD risk. Further analysis suggested that the 14 identified genes are not only involved in mitophagy, but implicate new mitochondrial processes. Our data suggests that therapeutics targeting mitochondrial bioenergetics and proteostasis pathways distinct from mitophagy could be beneficial to treating the early stage of PD

Published
2019

4. Novel GFM2 variants identified in two cases of early-onset mitochondrial disease cause impaired expression of mtDNA encoded OXPHOS subunits

Author

Glasgow, R.I.C., primary, Thompson, K., additional, He, L., additional, Alston, C.L., additional, Barbosa, I.A., additional, Deshpande, C., additional, Simpson, M.A., additional, Neu, A., additional, Löbel, U., additional, Prokisch, H., additional, Haack, T.B., additional, Hempel, M., additional, McFarland, R., additional, and Taylor, R.W., additional

Published
2017
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5. Mitochondrial disease and lipid storage myopathy due to mutation in CHCHD10 or DNM1L and disordered mitochondrial dynamics

Author

Fratter, C., primary, Dombi, E., additional, Carver, J., additional, Sergeant, K., additional, Barbosa, I.A., additional, Hofer, M., additional, Esiri, M., additional, Hilton-Jones, D., additional, Jayawant, S., additional, Olpin, S., additional, Deshpande, C., additional, Simpson, M.A., additional, and Poulton, J., additional

Published
2017
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6. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Author

Thompson, K., Majd, H., Dallabona, C., Reinson, K., King, M.S., Alston, C.L., He, L., Lodi, T., Jones, S.A., Fattal-Valevski, A., Fraenkel, N.D., Saada, A., Haham, A., Isohanni, P., Vara, R., Barbosa, I.A., Simpson, M.A., Deshpande, C., Puusepp, S., Bonnen, P.E., Rodenburg, R.J.T., Suomalainen, A., Õunap, K., Elpeleg, O., Ferrero, I., McFarland, R., Kunji, E.R., Taylor, R.W., Thompson, K., Majd, H., Dallabona, C., Reinson, K., King, M.S., Alston, C.L., He, L., Lodi, T., Jones, S.A., Fattal-Valevski, A., Fraenkel, N.D., Saada, A., Haham, A., Isohanni, P., Vara, R., Barbosa, I.A., Simpson, M.A., Deshpande, C., Puusepp, S., Bonnen, P.E., Rodenburg, R.J.T., Suomalainen, A., Õunap, K., Elpeleg, O., Ferrero, I., McFarland, R., Kunji, E.R., and Taylor, R.W.

Abstract

Contains fulltext : 171353.pdf (Publisher’s version ) (Open Access)

Published
2016

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