Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Héléne Puccio"'
Autor:
Nicole M. Sayles, Jill S. Napierala, Josef Anrather, Nadège Diedhiou, Jixue Li, Marek Napierala, Hélène Puccio, Giovanni Manfredi
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 1 (2024)
Externí odkaz:
https://doaj.org/article/729b9a5043944924a6bc981023634e12
Autor:
Nicole M. Sayles, Jill S. Napierala, Josef Anrather, Nadège Diedhiou, Jixue Li, Marek Napierala, Hélène Puccio, Giovanni Manfredi
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 10 (2023)
Externí odkaz:
https://doaj.org/article/b108419737af43439a6188f425d2817c
Publikováno v:
Cells, Vol 13, Iss 4, p 319 (2024)
Cerebellar ataxias are a wide heterogeneous group of movement disorders. Within this broad umbrella of diseases, there are both genetics and sporadic forms. The clinical presentation of these conditions can exhibit a diverse range of symptoms across
Externí odkaz:
https://doaj.org/article/4f0d27dd98b948c7914c4bc32715528c
Autor:
Aida Abu-Baker, Tetsuo Ashizawa, Linda L. Bachinski, Albino Bacolla, Gillian P. Bates, John S. Belt, Dya Bezprozvanny, Sanjay Bidichandani, John J. Bissler, Alexis Brice, Kerri M. Carlson, CheunJu Chen, Thomas A. Cooper, Natividad Cortez-Apreza, John W. Day, Irene De Biase, Ruhee Dere, Didier Devys, Katherine A. Dick, Vincent Dion, Lisa M. Ellerby, Henry F. Epstein, Kenneth H. Fischbeck, Laurent Foiry, Rune R. Frants, Gwenn A. Garden, M´rio Gomes-Pereira, Geneviéve Gourdon, Paul J. Hagerman, Randi J Hagerman, Peter S. Harper, Vera I. Hashem, Michael R. Hayden, Micheal L. Hebert, Dominique Helmlinger, Emma Hockly, Susan E. Holmes, H.S. Hwang, Yoshio Ikeda, Kinya Ishikawa, George R. Jackson, Mariana Kekis, Beata Kosmider, Irina V. Kovtun, Ralf Krahe, Wlodzimierz J. Krzyzosiak, Albert R. La Spada, Jacquelynn E. Larson, Rachel Lau, Michael Leffak, Michelle R. Leonard, Yunfu Lin, Yuan Liu, Julien L. Marcadier, Jamie M. Margolis, Russell L. Margolis, Cynthia T. McMurray, Sergei M. Mirkin, Hidehiro Mizusawa, Darren G. Monckton, S. Erin Montgomery, Marek Napierala, David L. Nelson, Elizabeth O'Hearn, Ben A. Oostra, Harry T. Orr, George W. Padberg, Massimo Pandolfo, Gagan B. Panigrahi, Sharan Paul, Henry Paulson, Christopher E. Pearson, Olga Pletnikova, Vladimir N. Potaman, Mahmoud A. Pouladi, Rajendra Prasad, Héléne Puccio, Stefan M. Pulst, Malgorzata J. Pytlos, Laura P.W. Ranum, Lynn A. Raymond, Sita Reddy, Robert I. Richards, Christopher A. Ross, Guy Rouleau, Dobrila D. Rudnicki, Tzu-Kang Sang, Peggy E. Shelbourne, Michael J. Siciliano, Richard R. Sinden, Ram Singh, Krzysztof Sobczak, LesHe S. Son, Giovanni Stevanin, S. Strack, Maurice S. Swanson, J. Paul Taylor, Charles A. Thornton, Andrea Todd, Juan Troncoso, Ray Truant, Bjarne Udd, Karen Usdin, Silvere M. van der Maarel, Rene E.M.A. van Herpen, Caroline Vosch, Derick G. Wansink, Robert D. Wells, Ronald Wetzel, Bé Wieringa, Robert B. Wilson, Samuel H. Wilson, John H. Wilson, Marzena Wojciechowska
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd4cd0ded2f3ce9679528ecf02b5ccd4
https://doi.org/10.1016/b978-012369462-1/50000-4
https://doi.org/10.1016/b978-012369462-1/50000-4
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 19, Iss , Pp 120-138 (2020)
Friedreich ataxia (FA) is currently an incurable inherited mitochondrial disease caused by reduced levels of frataxin (FXN). Cardiac dysfunction is the main cause of premature death in FA. Adeno-associated virus (AAV)-mediated gene therapy constitute
Externí odkaz:
https://doaj.org/article/fa54e2a198ec448e8bab56a06c3b3146
Autor:
Lena Kristina Beilschmidt, Sandrine Ollagnier de Choudens, Marjorie Fournier, Ioannis Sanakis, Marc-André Hograindleur, Martin Clémancey, Geneviève Blondin, Stéphane Schmucker, Aurélie Eisenmann, Amélie Weiss, Pascale Koebel, Nadia Messaddeq, Hélène Puccio, Alain Martelli
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)
The mitochondrial proteins ISCA1 and ISCA2 form a complex that is involved in the biogenesis of Fe–S clusters. Here the authors report that ISCA1 and ISCA2 interact differently with proteins of the Fe–S machinery and that under certain conditions
Externí odkaz:
https://doaj.org/article/067e79be2eb44b3496a3b8fba496a36b
Autor:
Aurore Hick, Marie Wattenhofer-Donzé, Satyan Chintawar, Philippe Tropel, Jodie P. Simard, Nadège Vaucamps, David Gall, Laurie Lambot, Cécile André, Laurence Reutenauer, Myriam Rai, Marius Teletin, Nadia Messaddeq, Serge N. Schiffmann, Stéphane Viville, Christopher E. Pearson, Massimo Pandolfo, Hélène Puccio
Publikováno v:
Disease Models & Mechanisms, Vol 6, Iss 3, Pp 608-621 (2013)
SUMMARY Friedreich’s ataxia (FRDA) is a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy. FRDA is due to expanded GAA repeats within the first intron of the gene encoding frataxin, a conserved mitochondrial
Externí odkaz:
https://doaj.org/article/8628c6091f1b41bfa49ec4ee6cf62b74
Autor:
Alain Martelli, Lisa S. Friedman, Laurence Reutenauer, Nadia Messaddeq, Susan L. Perlman, David R. Lynch, Kathrin Fedosov, Jörg B. Schulz, Massimo Pandolfo, Hélène Puccio
Publikováno v:
Disease Models & Mechanisms, Vol 5, Iss 6, Pp 860-869 (2012)
SUMMARY Friedreich’s ataxia (FRDA) is the most common hereditary ataxia in the caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia, hypertrophic cardiomyopathy and increased incidence of diabetes. FRDA is caused
Externí odkaz:
https://doaj.org/article/1b4609d7de1d4f47ae9e010f40dc8b22
Publikováno v:
Disease Models & Mechanisms, Vol 5, Iss 2, Pp 165-176 (2012)
In 1996, a link was identified between Friedreich’s ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN). Initial studies revealed that the disease is caused by a unique, most frequently bialle
Externí odkaz:
https://doaj.org/article/e5214f40f88345c5af6871b8c8711b98
Autor:
Stéphane Schmucker, Alain Martelli, Florent Colin, Adeline Page, Marie Wattenhofer-Donzé, Laurence Reutenauer, Hélène Puccio
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e16199 (2011)
BACKGROUND: Frataxin, the mitochondrial protein deficient in Friedreich ataxia, a rare autosomal recessive neurodegenerative disorder, is thought to be involved in multiple iron-dependent mitochondrial pathways. In particular, frataxin plays an impor
Externí odkaz:
https://doaj.org/article/c6a50afee2344fd683d3325c207d468d