المؤلفون: Camilla Ceccatelli Berti, Shalev Gihaz, Sonia Figuccia, Jae-Yeon Choi, Anasuya C. Pal, Paola Goffrini, Choukri Ben Mamoun

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 1, p 435 (2022)

مصطلحات موضوعية: Saccharomyces cerevisiae, pantothenate kinase, vitamin B5, pantothenic acid, PKAN, model, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/24/1/435; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/d61de841c0234fe1a2b7d29461520004

المؤلفون: 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

المصدر: Microbial Cell, Vol 5, Iss 1, Pp 4-31 (2018)

مصطلحات موضوعية: accidental cell death, apoptosis, autophagic cell death, autophagy, caspases, mitochondrial membrane permeabilization, mitotic catastrophe, model organism, necrosis, reactive oxygen species, regulated cell death, Saccharomyces cerevisiae, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://microbialcell.com/researcharticles/guidelines-and-recommendations-on-yeast-cell-death-nomenclature/; https://doaj.org/toc/2311-2638

URL الوصول: https://doaj.org/article/7204719614c446e08c16d57347cd80b5

المؤلفون: Alexandru Ionut Gilea, Camilla Ceccatelli Berti, Martina Magistrati, Giulia di Punzio, Paola Goffrini, Enrico Baruffini, Cristina Dallabona

المصدر: Genes, Vol 12, Iss 12, p 1866 (2021)

مصطلحات موضوعية: mtDNA depletion syndromes, diseases associated with mtDNA deletions, yeast model, MPV17/SYM1, MRM2/MRM2, OPA1/MGM1, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/12/1866; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/4bc3130e8aaf4903bdcf80185c463662

المؤلفون: Sonia Figuccia, Andrea Degiorgi, Camilla Ceccatelli Berti, Enrico Baruffini, Cristina Dallabona, Paola Goffrini

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 9, p 4524 (2021)

مصطلحات موضوعية: mitochondrial aminoacyl-tRNA synthetases, yeast model, novel variants, mitochondrial diseases, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/9/4524; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/587fc44b11bc4652a99447d64e789b3b

المؤلفون: Camilla Ceccatelli Berti, Giulia di Punzio, Cristina Dallabona, Enrico Baruffini, Paola Goffrini, Tiziana Lodi, Claudia Donnini

المصدر: Genes, Vol 12, Iss 2, p 300 (2021)

مصطلحات موضوعية: yeast model, mitochondria, diseases, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/2/300; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/eca30774eb944850848939b66a8be034

المؤلفون: Camilla Ceccatelli Berti, Alexandru Ionut Gilea, Marco Armando De Gregorio, Paola Goffrini

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 1, p 293 (2020)

مصطلحات موضوعية: pantothenate kinase, yeast, mitochondria, drug screening, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/1/293; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/03c6224efae64fe79e3d6332eaea70c5

المؤلفون: Camilla Ceccatelli Berti, Cristina Dallabona, Mirca Lazzaretti, Sabrina Dusi, Elena Tosi, Valeria Tiranti, Paola Goffrini

المصدر: Microbial Cell, Vol 2, Iss 4, Pp 126-135 (2015)

مصطلحات موضوعية: Saccharomyces cerevisiae, yeast model, Coenzyme A, NBIA, COASY, mitochondria, iron accumulation, lipid content, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://microbialcell.com/researcharticles/modeling-human-coenzyme-a-synthase-mutation-in-yeast-reveals-altered-mitochondrial-function-lipid-content-and-iron-metabolism-2/; https://doaj.org/toc/2311-2638

URL الوصول: https://doaj.org/article/55deefbd69e14a4099be894d9dc25a57

المؤلفون: Lisa Rizzetto, Elena Zanni, Daniela Uccelletti, Ileana Ferrero, Paola Goffrini

المصدر: Journal of Aging Research, Vol 2012 (2012)

مصطلحات موضوعية: Geriatrics, RC952-954.6

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2204; https://doaj.org/toc/2090-2212

URL الوصول: https://doaj.org/article/d7d0733eeeaf448dbca9e1f9b8f80b32

المؤلفون: Alessia Indrieri, Ivan Conte, Giancarlo Chesi, Alessia Romano, Jade Quartararo, Rosarita Tatè, Daniele Ghezzi, Massimo Zeviani, Paola Goffrini, Ileana Ferrero, Paola Bovolenta, Brunella Franco

المصدر: EMBO Molecular Medicine, Vol 6, Iss 6, Pp 849-849 (2014)

مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/722b8b1865ca42239273f656c3b8fc06

المؤلفون: 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

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, ANS - Amsterdam Neuroscience, Functional Genomics, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Pediatric surgery

المصدر: 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

مصطلحات موضوعية: medicine.diagnostic_test, business.industry, Epileptic encephalopathy, Disease progression, Disease, medicine.disease, Phenotype, White matter, Leukoencephalopathy, Cross-Sectional Studies, medicine.anatomical_structure, Neuroimaging, SDG 3 - Good Health and Well-being, Leukoencephalopathies, Immunology, Disease Progression, medicine, Humans, business, Genetics (clinical), Genetic testing

URL الوصول: 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