Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Jean, Bastin"'
Autor:
Jean Bastin, Marine Sroussi, Ivan Nemazanyy, Pierre Laurent-Puig, Sophie Mouillet-Richard, Fatima Djouadi
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-16 (2023)
Abstract Background Colorectal cancer (CRC) can be classified into four molecular subtypes (CMS) among which CMS1 is associated with the best prognosis, while CMS4, the mesenchymal subtype, has the worst outcome. Although mitochondria are considered
Externí odkaz:
https://doaj.org/article/08da4395fe2b4e27ba67cb17740e7c9b
Autor:
Léo Houdebine, Domenico D’Amico, Jean Bastin, Farah Chali, Céline Desseille, Valentin Rumeau, Judy Soukkari, Carole Oudot, Thaïs Rouquet, Bruno Bariohay, Julien Roux, Delphine Sapaly, Laure Weill, Philippe Lopes, Fatima Djouadi, Cynthia Bezier, Frédéric Charbonnier, Olivier Biondi
Publikováno v:
Frontiers in Physiology, Vol 10 (2019)
Spinal Muscular Atrophy (SMA), an autosomal recessive neurodegenerative disease characterized by the loss of spinal-cord motor-neurons, is caused by mutations on Survival-of-Motor Neuron (SMN)-1 gene. The expression of SMN2, a SMN1 gene copy, partial
Externí odkaz:
https://doaj.org/article/0b7e68d9487c4a4d90e01f37457cf285
Autor:
Rita Barone, Salvatore Alaimo, Marianna Messina, Alfredo Pulvirenti, Jean Bastin, MIMIC-Autism Group, Alfredo Ferro, Richard E. Frye, Renata Rizzo, Agata Fiumara, Concetta Meli, Mariangela Gulisano, Federica Maugeri, Adriana Prato, Giovanna Russo, Giovanni Tabbì
Publikováno v:
Frontiers in Psychiatry, Vol 9 (2018)
Autism spectrum disorder (ASD) is currently diagnosed according to behavioral criteria. Biomarkers that identify children with ASD could lead to more accurate and early diagnosis. ASD is a complex disorder with multifactorial and heterogeneous etiolo
Externí odkaz:
https://doaj.org/article/55172db0ac444adf8e8ff1cae4c75c55
Autor:
Jean Bastin, Fatima Djouadi
Publikováno v:
médecine/sciences. 38:526-528
Autor:
Céline Desseille, Séverine Deforges, Olivier Biondi, Léo Houdebine, Domenico D’amico, Antonin Lamazière, Cédric Caradeuc, Gildas Bertho, Gaëlle Bruneteau, Laure Weill, Jean Bastin, Fatima Djouadi, François Salachas, Philippe Lopes, Christophe Chanoine, Charbel Massaad, Frédéric Charbonnier
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 10 (2017)
Amyotrophic Lateral Sclerosis is an adult-onset neurodegenerative disease characterized by the specific loss of motor neurons, leading to muscle paralysis and death. Although the cellular mechanisms underlying amyotrophic lateral sclerosis (ALS)-indu
Externí odkaz:
https://doaj.org/article/93e08f1473ec471cac23c066507b727c
Autor:
Jean, Bastin, Fatima, Djouadi
Publikováno v:
Medecine sciences : M/S. 38(6-7)
Autor:
Virginie Aires, Dominique Delmas, Fatima Djouadi, Jean Bastin, Mustapha Cherkaoui, Norbert Latruffe
Publikováno v:
Proceedings, Vol 11, Iss 1, p 5 (2019)
The mitochondrial-located enzyme Carnitine palmitoyltransferase [...]
Externí odkaz:
https://doaj.org/article/60640456bb8c4b7bb830119e193c0b25
Autor:
Fatima Djouadi, Jean Bastin
Publikováno v:
Cells, Vol 8, Iss 4, p 289 (2019)
Mitochondrial fatty acid oxidation (FAO) and respiratory chain (RC) defects form a large group of inherited monogenic disorders sharing many common clinical and pathophysiological features, including disruption of mitochondrial bioenergetics, but als
Externí odkaz:
https://doaj.org/article/e6b03c80e8984c9f889a65cee65a32a9
Autor:
Virginie Aires, Dominique Delmas, Fatima Djouadi, Jean Bastin, Mustapha Cherkaoui-Malki, Norbert Latruffe
Publikováno v:
Molecules, Vol 23, Iss 1, p 7 (2017)
Carnitine palmitoyltransferase-2 (CPT2) is a mitochondrial enzyme involved in long-chain fatty acid entry into mitochondria for their β-oxidation and energy production. Two phenotypes are associated with the extremely reduced CPT2 activity in geneti
Externí odkaz:
https://doaj.org/article/9339ad9072d14a31b1be550b01d1ebde
Autor:
Simon E. Olpin, Shirley Clark, Jane Dalley, Brage S. Andresen, Joanne Croft, Camilla A. Scott, Aneal Khan, Richard J. Kirk, Rebecca Sparkes, Marisa Chard, Alicia Chan, Emma Glamuzina, Jean Bastin, Nigel J. Manning, Rodney J. Pollitt
Publikováno v:
International Journal of Neonatal Screening, Vol 3, Iss 1, p 2 (2017)
Very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) is a clinically heterogeneous disorder with three major phenotypes: severe neonatal/infantile, milder childhood and late onset myopathic. VLCADD is genetically heterogeneous with numerous pat
Externí odkaz:
https://doaj.org/article/b8698ab65b934b559c33cf4ea396d746