Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Paola Goffrini"'
Autor:
Camilla Ceccatelli Berti, Shalev Gihaz, Sonia Figuccia, Jae-Yeon Choi, Anasuya C. Pal, Paola Goffrini, Choukri Ben Mamoun
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 1, p 435 (2022)
Human PANK1, PANK2, and PANK3 genes encode several pantothenate kinase isoforms that catalyze the phosphorylation of vitamin B5 (pantothenic acid) to phosphopantothenate, a critical step in the biosynthesis of the major cellular cofactor, Coenzyme A
Externí odkaz:
https://doaj.org/article/d61de841c0234fe1a2b7d29461520004
Autor:
Didac Carmona-Gutierrez, Maria Anna Bauer, Andreas Zimmermann, Andrés Aguilera, Nicanor Austriaco, Kathryn Ayscough, Rena Balzan, Shoshana Bar-Nun, Antonio Barrientos, Peter Belenky, Marc Blondel, Ralf J. Braun, Michael Breitenbach, William C. Burhans, Sabrina Büttner, Duccio Cavalieri, Michael Chang, Katrina F. Cooper, Manuela Côrte-Real, Vítor Costa, Christophe Cullin, Ian Dawes, Jörn Dengjel, Martin B. Dickman, Tobias Eisenberg, Birthe Fahrenkrog, Nicolas Fasel, Kai-Uwe Fröhlich, Ali Gargouri, Sergio Giannattasio, Paola Goffrini, Campbell W. Gourlay, Chris M. Grant, Michael T. Greenwood, Nicoletta Guaragnella, Thomas Heger, Jürgen Heinisch, Eva Herker, Johannes M. Herrmann, Sebastian Hofer, Antonio Jiménez-Ruiz, Helmut Jungwirth, Katharina Kainz, Dimitrios P. Kontoyiannis, Paula Ludovico, Stéphen Manon, Enzo Martegani, Cristina Mazzoni, Lynn A. Megeney, Chris Meisinger, Jens Nielsen, Thomas Nyström, Heinz D. Osiewacz, Tiago F. Outeiro, Hay-Oak Park, Tobias Pendl, Dina Petranovic, Stephane Picot, Peter Polčic, Mark Ramsdale, Mark Rinnerthaler, Patrick Rockenfeller, Christoph Ruckenstuhl, Raffael Schaffrath, Maria Segovia, Fedor F. Severin, Amir Sharon, Stephan J. Sigrist, Cornelia Sommer-Ruck, Maria João Sousa, Johan M. Thevelein, Karin Thevissen, Vladimir Titorenko, Michel B. Toledano, Mick Tuite, F.-Nora Vögtle, Benedikt Westermann, Joris Winderickx, Silke Wissing, Stefan Wölfl, Zhaojie J. Zhang, Richard Y. Zhao, Bing Zhou, Lorenzo Galluzzi, Guido Kroemer, Frank Madeo
Publikováno v:
Microbial Cell, Vol 5, Iss 1, Pp 4-31 (2018)
Elucidating the biology of yeast in its full complexity has major implications for science, medicine and industry. One of the most critical processes determining yeast life and physiology is cellular demise. However, the investigation of yeast cell d
Externí odkaz:
https://doaj.org/article/7204719614c446e08c16d57347cd80b5
Autor:
Alexandru Ionut Gilea, Camilla Ceccatelli Berti, Martina Magistrati, Giulia di Punzio, Paola Goffrini, Enrico Baruffini, Cristina Dallabona
Publikováno v:
Genes, Vol 12, Iss 12, p 1866 (2021)
Mitochondrial DNA (mtDNA) maintenance is critical for oxidative phosphorylation (OXPHOS) since some subunits of the respiratory chain complexes are mitochondrially encoded. Pathological mutations in nuclear genes involved in the mtDNA metabolism may
Externí odkaz:
https://doaj.org/article/4bc3130e8aaf4903bdcf80185c463662
Autor:
Sonia Figuccia, Andrea Degiorgi, Camilla Ceccatelli Berti, Enrico Baruffini, Cristina Dallabona, Paola Goffrini
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9, p 4524 (2021)
In most eukaryotes, mitochondrial protein synthesis is essential for oxidative phosphorylation (OXPHOS) as some subunits of the respiratory chain complexes are encoded by the mitochondrial DNA (mtDNA). Mutations affecting the mitochondrial translatio
Externí odkaz:
https://doaj.org/article/587fc44b11bc4652a99447d64e789b3b
Autor:
Camilla Ceccatelli Berti, Giulia di Punzio, Cristina Dallabona, Enrico Baruffini, Paola Goffrini, Tiziana Lodi, Claudia Donnini
Publikováno v:
Genes, Vol 12, Iss 2, p 300 (2021)
The increasing application of next generation sequencing approaches to the analysis of human exome and whole genome data has enabled the identification of novel variants and new genes involved in mitochondrial diseases. The ability of surviving in th
Externí odkaz:
https://doaj.org/article/eca30774eb944850848939b66a8be034
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 1, p 293 (2020)
Mutations in the pantothenate kinase 2 gene (PANK2) are the cause of pantothenate kinase-associated neurodegeneration (PKAN), the most common form of neurodegeneration with brain iron accumulation. Although different disease models have been created
Externí odkaz:
https://doaj.org/article/03c6224efae64fe79e3d6332eaea70c5
Autor:
Camilla Ceccatelli Berti, Cristina Dallabona, Mirca Lazzaretti, Sabrina Dusi, Elena Tosi, Valeria Tiranti, Paola Goffrini
Publikováno v:
Microbial Cell, Vol 2, Iss 4, Pp 126-135 (2015)
Mutations in nuclear genes associated with defective coenzyme A biosynthesis have been identified as responsible for some forms of neurodegeneration with brain iron accumulation (NBIA), namely PKAN and CoPAN. PKAN are defined by mutations in PANK2, e
Externí odkaz:
https://doaj.org/article/55deefbd69e14a4099be894d9dc25a57
Publikováno v:
Journal of Aging Research, Vol 2012 (2012)
Oxidative damage, mitochondrial dysfunction, genomic instability, and telomere shortening represent all molecular processes proposed as causal factors in aging. Lifespan can be increased by metabolism through an influence on such processes. Glucose r
Externí odkaz:
https://doaj.org/article/d7d0733eeeaf448dbca9e1f9b8f80b32
Autor:
Alessia Indrieri, Ivan Conte, Giancarlo Chesi, Alessia Romano, Jade Quartararo, Rosarita Tatè, Daniele Ghezzi, Massimo Zeviani, Paola Goffrini, Ileana Ferrero, Paola Bovolenta, Brunella Franco
Publikováno v:
EMBO Molecular Medicine, Vol 6, Iss 6, Pp 849-849 (2014)
Externí odkaz:
https://doaj.org/article/722b8b1865ca42239273f656c3b8fc06
Autor:
Gajja S. Salomons, Urania Kotzaeridou, Travis Moore, Chiara Aiello, Frances Elmslie, Isabelle Thiffault, Francesco Nicita, Saskia Biskup, Paola Goffrini, Karen Stals, Ralf A. Husain, Sonia Figuccia, Amy Pizzino, Rosalba Carrozzo, Cas Simons, Enrico Bertini, Alessandra Torraco, Guy Helman, Ulrich Brandl, Geneviève Bernard, Desirée E.C. Smith, Ryan J. Taft, Rajat Gupta, Tobias B. Haack, Alexa Derksen, Adeline Vanderver, Theresa A. Grebe, Michela Catteruccia, Raphael Schiffmann, Marisa I. Mendes, Marjo S. van der Knaap, Darja Gauck, Andreas Hahn, Lama Darbelli, Omar Sherbini, Ines Brösse, Kinga Hadzsiev
Publikováno v:
Genetics in medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins
Helman, G, Mendes, M I, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, P, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, D E C, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, T A, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, R J, Schiffmann, R, Brandl, U, Haack, T B, Salomons, G S, Simons, C, Bernard, G, van der Knaap, M S, Vanderver, A & Husain, R A 2021, ' Expanded phenotype of AARS1-related white matter disease ', Genetics in Medicine, vol. 23, no. 12, pp. 2352-2359 . https://doi.org/10.1038/s41436-021-01286-8
Genetics in Medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins
Helman, G, Mendes, M I, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, P, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, D E C, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, T A, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, R J, Schiffmann, R, Brandl, U, Haack, T B, Salomons, G S, Simons, C, Bernard, G, van der Knaap, M S, Vanderver, A & Husain, R A 2021, ' Expanded phenotype of AARS1-related white matter disease ', Genetics in Medicine, vol. 23, no. 12, pp. 2352-2359 . https://doi.org/10.1038/s41436-021-01286-8
Genetics in Medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins
Purpose: Recent reports of individuals with cytoplasmic transfer RNA (tRNA) synthetase-related disorders have identified cases with phenotypic variability from the index presentations. We sought to assess phenotypic variability in individuals with AA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca95affd452f17a6c485d3de16d5b85b
https://pure.amc.nl/en/publications/expanded-phenotype-of-aars1related-white-matter-disease(f8099511-a150-409f-89b2-4af617ac64f8).html
https://pure.amc.nl/en/publications/expanded-phenotype-of-aars1related-white-matter-disease(f8099511-a150-409f-89b2-4af617ac64f8).html