Zobrazeno 1 - 10
of 209
pro vyhledávání: '"Jean‐Philippe Loeffler"'
Autor:
Robin Waegaert, Sylvie Dirrig-Grosch, Haoyi Liu, Marion Boutry, Ping Luan, Jean-Philippe Loeffler, Frédérique René
Publikováno v:
Biomolecules, Vol 12, Iss 4, p 497 (2022)
CHMP2B is a protein that coordinates membrane scission events as a core component of the ESCRT machinery. Mutations in CHMP2B are an uncommon cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two neurodegenerative diseas
Externí odkaz:
https://doaj.org/article/70e714f51bd5447c8cc1653382503178
Autor:
Robin Waegaert, Sylvie Dirrig-Grosch, Florian Parisot, Céline Keime, Alexandre Henriques, Jean-Philippe Loeffler, Frédérique René
Publikováno v:
Neurobiology of Disease, Vol 136, Iss , Pp 104710- (2020)
Amyotrophic lateral sclerosis and frontotemporal dementia are two neurodegenerative diseases with currently no cure. These two diseases share a clinical continuum with overlapping genetic causes. Mutations in the CHMP2B gene are found in patients wit
Externí odkaz:
https://doaj.org/article/889466d7b8d340a2a6458e0cb99c65fb
Autor:
Cyril Quessada, Alexandra Bouscary, Frédérique René, Cristiana Valle, Alberto Ferri, Shyuan T. Ngo, Jean-Philippe Loeffler
Publikováno v:
Cells, Vol 10, Iss 6, p 1449 (2021)
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive and selective loss of motor neurons, amyotrophy and skeletal muscle paralysis usually leading to death due to respiratory failure. While generally c
Externí odkaz:
https://doaj.org/article/1ff75d87f09b464fb571e9ffe82233a0
Autor:
Alexandre Henriques, Mylene Huebecker, Hélène Blasco, Céline Keime, Christian R. Andres, Philippe Corcia, David A. Priestman, Frances M. Platt, Michael Spedding, Jean-Philippe Loeffler
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-15 (2017)
Abstract Recent metabolomic reports connect dysregulation of glycosphingolipids, particularly ceramide and glucosylceramide, to neurodegeneration and to motor unit dismantling in amyotrophic lateral sclerosis at late disease stage. We report here alt
Externí odkaz:
https://doaj.org/article/8a113634c1bc4f8e9982c0d7c16ccc59
Autor:
Alexandra Bouscary, Cyril Quessada, Althéa Mosbach, Noëlle Callizot, Michael Spedding, Jean-Philippe Loeffler, Alexandre Henriques
Publikováno v:
Frontiers in Pharmacology, Vol 10 (2019)
Amyotrophic lateral sclerosis (ALS) is a multifactorial and fatal neurodegenerative disease. Growing evidence connects sphingolipid metabolism to the pathophysiology of ALS. In particular, levels of ceramides, glucosylceramides, and gangliosides are
Externí odkaz:
https://doaj.org/article/337e1ace11764decac5e777520b50712
Autor:
Alexandre Henriques, Vincent Croixmarie, Alexandra Bouscary, Althéa Mosbach, Céline Keime, Claire Boursier-Neyret, Bernard Walter, Michael Spedding, Jean-Philippe Loeffler
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 10 (2018)
Lipid metabolism is drastically dysregulated in amyotrophic lateral sclerosis and impacts prognosis of patients. Animal models recapitulate alterations in the energy metabolism, including hypermetabolism and severe loss of adipose tissue. To gain ins
Externí odkaz:
https://doaj.org/article/c733ad2621544a4cb28b1514063310dc
Autor:
Lavinia Palamiuc, Anna Schlagowski, Shyuan T Ngo, Aurelia Vernay, Sylvie Dirrig‐Grosch, Alexandre Henriques, Anne‐Laurence Boutillier, Joffrey Zoll, Andoni Echaniz‐Laguna, Jean‐Philippe Loeffler, Frédérique René
Publikováno v:
EMBO Molecular Medicine, Vol 7, Iss 5, Pp 526-546 (2015)
Abstract Amyotrophic lateral sclerosis (ALS) is the most common fatal motor neuron disease in adults. Numerous studies indicate that ALS is a systemic disease that affects whole body physiology and metabolic homeostasis. Using a mouse model of the di
Externí odkaz:
https://doaj.org/article/41d9b19abb1b404ca75e031658be746d
Autor:
Judith Eschbach, Jérôme Sinniger, Jamal Bouitbir, Anissa Fergani, Anna-Isabel Schlagowski, Joffrey Zoll, Bernard Geny, Frédérique René, Yves Larmet, Vincent Marion, Robert H. Baloh, Matthew B. Harms, Michael E. Shy, Nadia Messadeq, Patrick Weydt, Jean-Philippe Loeffler, Albert C. Ludolph, Luc Dupuis
Publikováno v:
Neurobiology of Disease, Vol 58, Iss , Pp 220-230 (2013)
Mutations in the DYNC1H1 gene encoding for dynein heavy chain cause two closely related human motor neuropathies, dominant spinal muscular atrophy with lower extremity predominance (SMA–LED) and axonal Charcot–Marie–Tooth (CMT) disease, and lea
Externí odkaz:
https://doaj.org/article/7d3226828a914e8f87d56033c9cb35bf
Autor:
Anissa Fergani, Hugues Oudart, Jose-Luis Gonzalez De Aguilar, Bastien Fricker, Frédérique René, Jean-François Hocquette, Vincent Meininger, Luc Dupuis, Jean-Philippe Loeffler
Publikováno v:
Journal of Lipid Research, Vol 48, Iss 7, Pp 1571-1580 (2007)
Amyotrophic lateral sclerosis (ALS) is the most common adult motor neuron disease, causing motor neuron degeneration, muscle atrophy, paralysis, and death. Despite this degenerative process, a stable hypermetabolic state has been observed in a large
Externí odkaz:
https://doaj.org/article/5d8e59cc20d24c319fb6b046d2d78211
Autor:
Alexandre Henriques, Hélène Blasco, Marie-Céline Fleury, Philippe Corcia, Andoni Echaniz-Laguna, Laura Robelin, Gabrielle Rudolf, Thiebault Lequeu, Martine Bergaentzle, Christian Gachet, Pierre-François Pradat, Eric Marchioni, Christian R Andres, Christine Tranchant, Jose-Luis Gonzalez De Aguilar, Jean-Philippe Loeffler
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0131512 (2015)
Growing evidence supports a link between fatty acid metabolism and amyotrophic lateral sclerosis (ALS). Here we determined the fatty acid composition of blood lipids to identify markers of disease progression and survival. We enrolled 117 patients fr
Externí odkaz:
https://doaj.org/article/379a0b12c66e4d7892c8808b0f8d0aa7