Zobrazeno 1 - 10
of 130
pro vyhledávání: '"Aurelio, Reyes"'
Publikováno v:
Acta Neurológica Colombiana, Vol 32, Iss 3 (2023)
Introducción: La neuromielitis óptica, es un síndrome clínico caracterizado por la asociación de mielitis transversa y neuritis óptica, hoy en día es reconocida como una enfermedad cuya fisiopatología, clínica, hallazgos en imágenes diagnó
Externí odkaz:
https://doaj.org/article/093216b1fd864e17ae1c1600dd90af2f
Autor:
Adriana Casallas Vanegas, Maria Isabel Zuluaga Rodas, Felipe Alvarez Gómez, Paul Cardona, Marco Aurelio Reyes Guerrero, Carlos Alberto Navas, Jessica Cuesta Bernal
Publikováno v:
Acta Neurológica Colombiana, Vol 37, Iss 1 Supl 1 (2021)
La relación entre las enfermedades inmunológicamente mediadas del sistema nervioso central (SNC) y las infecciones es muy estrecha. En primer lugar, es importante reconocer que las infecciones pueden desencadenar reacciones inmunopatológicas que p
Externí odkaz:
https://doaj.org/article/d869af09a43842ae877b0e207800662f
Publikováno v:
PLoS Genetics, Vol 16, Iss 7, p e1008923 (2020)
Mitochondrial translation defects can be due to mutations affecting mitochondrial- or nuclear-encoded components. The number of known nuclear genes involved in mitochondrial translation has significantly increased in the past years. RCC1L (WBSCR16),
Externí odkaz:
https://doaj.org/article/2eb8ce9ad3ec4bdaaa9a99669d24020f
Publikováno v:
Frontiers in Genetics, Vol 10 (2020)
RNase H1 is able to recognize DNA/RNA heteroduplexes and to degrade their RNA component. As a consequence, it has been implicated in different aspects of mtDNA replication such as primer formation, primer removal, and replication termination, and sig
Externí odkaz:
https://doaj.org/article/3d338694f9804c249bd874c1702d6e08
Autor:
Aurelio Reyes, Laura Melchionda, Alberto Burlina, Alan J Robinson, Daniele Ghezzi, Massimo Zeviani
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 10, Pp 1-15 (2018)
Abstract TIMM50 is an essential component of the TIM23 complex, the mitochondrial inner membrane machinery that imports cytosolic proteins containing a mitochondrial targeting presequence into the mitochondrial inner compartment. Whole exome sequenci
Externí odkaz:
https://doaj.org/article/2c07751b0e844b178a119d3be0a8a727
Publikováno v:
Acta Neurológica Colombiana, Vol 35, Iss 2 (2019)
El síndrome Clínico Aislado (SCA) denota al primer síntoma neurológico sugestivo de esclerosis múltiple (EM), de por lo menos 24 horas de duración; en ausencia de fiebre, procesos infecciosos y encefalopatía. Se caracteriza por su presentació
Externí odkaz:
https://doaj.org/article/d7957bdb8493446fa4f6db508c24cd18
Autor:
Viktor Posse, Ali Al-Behadili, Jay P Uhler, Anders R Clausen, Aurelio Reyes, Massimo Zeviani, Maria Falkenberg, Claes M Gustafsson
Publikováno v:
PLoS Genetics, Vol 15, Iss 1, p e1007781 (2019)
Human mitochondrial DNA (mtDNA) replication is first initiated at the origin of H-strand replication. The initiation depends on RNA primers generated by transcription from an upstream promoter (LSP). Here we reconstitute this process in vitro using p
Externí odkaz:
https://doaj.org/article/126e31ef6cce4b9ab4a7126a4f1a5716
Autor:
Dario Brunetti, Janniche Torsvik, Cristina Dallabona, Pedro Teixeira, Pawel Sztromwasser, Erika Fernandez‐Vizarra, Raffaele Cerutti, Aurelio Reyes, Carmela Preziuso, Giulia D'Amati, Enrico Baruffini, Paola Goffrini, Carlo Viscomi, Ileana Ferrero, Helge Boman, Wenche Telstad, Stefan Johansson, Elzbieta Glaser, Per M Knappskog, Massimo Zeviani, Laurence A Bindoff
Publikováno v:
EMBO Molecular Medicine, Vol 8, Iss 3, Pp 176-190 (2015)
Abstract Mitochondrial dysfunction and altered proteostasis are central features of neurodegenerative diseases. The pitrilysin metallopeptidase 1 (PITRM1) is a mitochondrial matrix enzyme, which digests oligopeptides, including the mitochondrial targ
Externí odkaz:
https://doaj.org/article/9e38dde157b64f9cb256e35e44049577
Autor:
Elena Perli, Carla Giordano, Annalinda Pisano, Arianna Montanari, Antonio F Campese, Aurelio Reyes, Daniele Ghezzi, Alessia Nasca, Helen A Tuppen, Maurizia Orlandi, Patrizio Di Micco, Elena Poser, Robert W Taylor, Gianni Colotti, Silvia Francisci, Veronica Morea, Laura Frontali, Massimo Zeviani, Giulia d'Amati
Publikováno v:
EMBO Molecular Medicine, Vol 6, Iss 2, Pp 169-182 (2014)
Abstract Mitochondrial (mt) diseases are multisystem disorders due to mutations in nuclear or mtDNA genes. Among the latter, more than 50% are located in transfer RNA (tRNA) genes and are responsible for a wide range of syndromes, for which no effect
Externí odkaz:
https://doaj.org/article/8e2561fa219d4180bf34bbd85d86691c
Autor:
Maria Isabel Zuluaga Rodas, Paul Cardona, Jessica Cuesta Bernal, Felipe Alvarez Gómez, Adriana Casallas Vanegas, Carlos Alberto Navas, Marco Aurelio Reyes Guerrero
Publikováno v:
Acta Neurológica Colombiana. 37:173-188
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31b341283cc19888646434e424bdbd80
https://doi.org/10.22379/24224022351
https://doi.org/10.22379/24224022351