Zobrazeno 1 - 10
of 225
pro vyhledávání: '"Francisco E Baralle"'
Autor:
Htoo A. Wai, Eliska Svobodova, Natalia Romero Herrera, Andrew G. L. Douglas, John W. Holloway, Francisco E. Baralle, Marco Baralle, Diana Baralle
Publikováno v:
Experimental and Molecular Medicine, Vol 56, Iss 8, Pp 1816-1825 (2024)
Abstract Effective translation of rare disease diagnosis knowledge into therapeutic applications is achievable within a reasonable timeframe; where mutations are amenable to current antisense oligonucleotide technology. In our study, we identified fi
Externí odkaz:
https://doaj.org/article/68cbfaef62044777968f0b7d27f4a829
Autor:
Lucie Grodecká, Pavla Lockerová, Barbora Ravčuková, Emanuele Buratti, Francisco E Baralle, Ladislav Dušek, Tomáš Freiberger
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e89570 (2014)
Mutations in the first nucleotide of exons (E(+1)) mostly affect pre-mRNA splicing when found in AG-dependent 3' splice sites, whereas AG-independent splice sites are more resistant. The AG-dependency, however, may be difficult to assess just from pr
Externí odkaz:
https://doaj.org/article/1a828e23d9c641e8b2d7b6964207b25e
Autor:
Vinay K Godena, Giulia Romano, Maurizio Romano, Chiara Appocher, Raffaella Klima, Emanuele Buratti, Francisco E Baralle, Fabian Feiguin
Publikováno v:
PLoS ONE, Vol 6, Iss 3, p e17808 (2011)
TDP-43 is an evolutionarily conserved RNA binding protein recently associated with the pathogenesis of different neurological diseases. At the moment, neither its physiological role in vivo nor the mechanisms that may lead to neurodegeneration are we
Externí odkaz:
https://doaj.org/article/647592efbc1d43ccb692b979ee1f6c23
Autor:
Shanshan Gao, Abigail Mumme-monheit, Michael R. Bristow, Matthew R.G. Taylor, Francisco E. Baralle, Dobromir Slavov, Elaine B. Spector, Luisa Mestroni, Familial Cardiomyopathy Registry, Suet Nee Chen
Publikováno v:
Am J Med Genet A
Dilated cardiomyopathy (DCM) is one of the most common cardiac phenotypes caused by mutations of lamin A/C (LMNA) gene in humans. In our study, a cohort of 57 patients who underwent heart transplant for dilated cardiomyopathy was screened for variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb766870b645ae581b45ec87658c2b90
https://doi.org/10.1002/ajmg.a.62530
https://doi.org/10.1002/ajmg.a.62530
Autor:
Miriam Pacetti, Laura De Conti, Luciano E. Marasco, Maurizio Romano, Mohammad M. Rashid, Martina Nubiè, Francisco E. Baralle, Marco Baralle
The cellular level of TDP-43 (also known as TARDBP) is tightly regulated; increases or decreases in TDP-43 have deleterious effects in cells. The predominant mechanism responsible for the regulation of the level of TDP-43 is an autoregulatory negativ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4acc84ef870bc9cfe2240414906fdffc
https://journals.biologists.com/dmm/article/15/4/dmm049032/275219/Physiological-tissue-specific-and-age-related
https://journals.biologists.com/dmm/article/15/4/dmm049032/275219/Physiological-tissue-specific-and-age-related
Autor:
Francisco E. Baralle, Marco Baralle
Publikováno v:
Biosystems. 164:39-48
This issue dedicated to the code of life tackles very challenging and open questions in Biology. The genetic code, brilliantly uncovered over 50 years ago is an example of a univocal biological code. In fact, except for very few and marginal variatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f663b362d1fccff78ca7c035eb2ca33e
https://doi.org/10.1016/j.biosystems.2017.11.002
https://doi.org/10.1016/j.biosystems.2017.11.002
Autor:
Marco Baralle, Francisco. E. Baralle
Publikováno v:
Annals of Hepatology, Vol 26, Iss, Pp 100534-(2021)
Alternative splicing produces complex and dynamic changes in the protein isoforms that are necessary for the proper biological functioning of the metabolic pathways involved in liver development and hepatocyte homeostasis. Changes in the physiologica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ead5e4e17c5741c1cfc8c59f751a38cf
https://doi.org/10.1016/j.aohep.2021.100534
https://doi.org/10.1016/j.aohep.2021.100534
Autor:
Greta Spinelli, Raffaella Klima, Lucia Cragnaz, Valentina Romano, Marco Baralle, Catherine A. Kettleborough, Francisco. E. Baralle, Emilie A. Bureau, Laura De Conti, Fabian Feiguin, Natasa Skoko, Janet Brownlees
Publikováno v:
Neurobiology of Disease, Vol 160, Iss, Pp 105515-(2021)
Brain inclusions mainly composed of misfolded and aggregated TAR DNA binding protein 43 (TDP-43), are characteristic hallmarks of amyotrophic lateral sclerosis (ALS). Irrespective of the role played by the inclusions, their reduction represents an im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a90a83a0e291559bcf5e3136c5dbd7e
https://doi.org/10.1016/j.nbd.2021.105515
https://doi.org/10.1016/j.nbd.2021.105515
Autor:
Cristiana Stuani, Valentina Romano, Miguel Mompeán, Emanuele Buratti, Francisco E. Baralle, Douglas V. Laurents, David Pantoja-Uceda
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
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Transactive response DNA-binding protein 43 (TDP-43) performs multiple tasks in mRNA processing, transport, and translational regulation, but it also forms aggregates implicated in amyotrophic lateral sclerosis. TDP-43’s N-terminal domain (NTD) is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c6f235ed3e833a5a497c591d0efae1
https://doi.org/10.1074/jbc.m117.775965
https://doi.org/10.1074/jbc.m117.775965
Autor:
Jimena Giudice, Francisco E. Baralle
Publikováno v:
Nature Reviews Molecular Cell Biology. 18:437-451
Alternative splicing of eukaryotic transcripts is a mechanism that significantly contributes to the generation of the vast protein diversity from a rather limited number of genes. The mechanisms and outcomes of alternative splicing of individual tran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49223ada00f83ec90bbbd0ffcebf89c0
https://doi.org/10.1038/nrm.2017.27
https://doi.org/10.1038/nrm.2017.27