Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Claire Pujol"'
Autor:
Livia Parodi, Claire Pujol
Publikováno v:
Journal of Bio-X Research, Vol 5, Iss 2, Pp 55-63 (2022)
Abstract. Hereditary spastic paraplegia type 56 (SPG56-HSP) is a rare autosomal recessive disorder caused by loss of function mutations in CYP2U1, leading to an early-onset limbs spasticity, often complicated by additional neurological or extra-neuro
Externí odkaz:
https://doaj.org/article/89db1d2806f14b159b496db010b5fe1b
Autor:
Maxime Boutry, Julien Branchu, Céline Lustremant, Claire Pujol, Julie Pernelle, Raphaël Matusiak, Alexandre Seyer, Marion Poirel, Emeline Chu-Van, Alexandre Pierga, Kostantin Dobrenis, Jean-Philippe Puech, Catherine Caillaud, Alexandra Durr, Alexis Brice, Benoit Colsch, Fanny Mochel, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios
Publikováno v:
Cell Reports, Vol 23, Iss 13, Pp 3813-3826 (2018)
Summary: Lysosome membrane recycling occurs at the end of the autophagic pathway and requires proteins that are mostly encoded by genes mutated in neurodegenerative diseases. However, its implication in neuronal death is still unclear. Here, we show
Externí odkaz:
https://doaj.org/article/358623cb25c54ed8bb5c4530b6f112e8
Autor:
Adela Guarás, Ester Perales-Clemente, Enrique Calvo, Rebeca Acín-Pérez, Marta Loureiro-Lopez, Claire Pujol, Isabel Martínez-Carrascoso, Estefanía Nuñez, Fernando García-Marqués, María Angeles Rodríguez-Hernández, Ana Cortés, Francisca Diaz, Acisclo Pérez-Martos, Carlos T. Moraes, Patricio Fernández-Silva, Aleksandra Trifunovic, Plácido Navas, Jesús Vazquez, Jose A. Enríquez
Publikováno v:
Cell Reports, Vol 15, Iss 1, Pp 197-209 (2016)
Electrons feed into the mitochondrial electron transport chain (mETC) from NAD- or FAD-dependent enzymes. A shift from glucose to fatty acids increases electron flux through FAD, which can saturate the oxidation capacity of the dedicated coenzyme Q (
Externí odkaz:
https://doaj.org/article/398fede521514fbaa72a53db1ef4ebdc
Autor:
Claire Pujol, Ivana Bratic-Hench, Marija Sumakovic, Jürgen Hench, Arnaud Mourier, Linda Baumann, Victor Pavlenko, Aleksandra Trifunovic
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e59493 (2013)
Many Caenorhabditis elegans mutants with dysfunctional mitochondrial electron transport chain are surprisingly long lived. Both short-lived (gas-1(fc21)) and long-lived (nuo-6(qm200)) mutants of mitochondrial complex I have been identified. However,
Externí odkaz:
https://doaj.org/article/92280aef259942d4b368c5a53e538e79
Autor:
Jürgen Hench, Ivana Bratić Hench, Claire Pujol, Sabine Ipsen, Susanne Brodesser, Arnaud Mourier, Markus Tolnay, Stephan Frank, Aleksandra Trifunović
Publikováno v:
PLoS ONE, Vol 6, Iss 12, p e28417 (2011)
The majority of metabolic principles are evolutionarily conserved from nematodes to humans. Caenorhabditis elegans has widely accelerated the discovery of new genes important to maintain organismic metabolic homeostasis. Various methods exist to asse
Externí odkaz:
https://doaj.org/article/47a99de4adce49dbb60666a963e49f53
Autor:
Claire Pujol, Elise Lebigot, Pauline Gaignard, Said Galai, Ichraf Kraoua, Jean-Philippe Bault, Rodolphe Dard, Ilhem Ben Youssef-Turki, Souheil Omar, Audrey Boutron, Timothy Wai, Abdelhamid Slama
Publikováno v:
Research Square
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, pp.awac444. ⟨10.1093/brain/awac444⟩
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, pp.awac444. ⟨10.1093/brain/awac444⟩
Pyruvate is an essential metabolite produced by the glycolytic pathway in the cytosol and must be transported across the inner mitochondrial membrane (IMM) into the mitochondrial matrix, where it is oxidized to fuel mitochondrial respiration. Pyruvat
Autor:
Livia Parodi, Mathieu Barbier, Maxime Jacoupy, Claire Pujol, François-Xavier Lejeune, Pauline Lallemant-Dudek, Typhaine Esteves, Maartje Pennings, Erik-Jan Kamsteeg, Marine Guillaud-Bataille, Guillaume Banneau, Giulia Coarelli, Badreddine Mohand Oumoussa, Matthew J. Fraidakis, Giovanni Stevanin, Christel Depienne, Bart van de Warrenburg, Alexis Brice, Alexandra Durr
Publikováno v:
Genetics in Medicine, 24, 11, pp. 2308-2317
Genetics in Medicine, 24, 2308-2317
Genetics in Medicine
Genetics in Medicine, 2022, pp.S1098-3600. ⟨10.1016/j.gim.2022.07.023⟩
Genetics in Medicine, 24, 2308-2317
Genetics in Medicine
Genetics in Medicine, 2022, pp.S1098-3600. ⟨10.1016/j.gim.2022.07.023⟩
Item does not contain fulltext PURPOSE: Hereditary spastic paraplegia type 4 is extremely variable in age at onset; the same variant can cause onset at birth or in the eighth decade. We recently discovered that missense variants in SPAST, which influ
Autor:
Marijana Croon, Karolina Szczepanowska, Milica Popovic, Christina Lienkamp, Katharina Senft, Christoph Paul Brandscheid, Theresa Bock, Leoni Gnatzy-Feik, Artem Ashurov, Richard James Acton, Harshita Kaul, Claire Pujol, Stephan Rosenkranz, Marcus Krüger, Aleksandra Trifunovic
Publikováno v:
Science Advances
Science Advances, 2022, 8 (14), pp.eabn7105. ⟨10.1126/sciadv.abn7105⟩
Sci Adv
Science Advances, 2022, 8 (14), pp.eabn7105. ⟨10.1126/sciadv.abn7105⟩
Sci Adv
International audience; The mitochondrial integrated stress response (mitoISR) has emerged as a major adaptive pathway to respiratory chain deficiency, but both the tissue specificity of its regulation, and how mitoISR adapts to different levels of m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d63cb2600197b9d15cea33718816249
https://hal-pasteur.archives-ouvertes.fr/pasteur-03639915/document
https://hal-pasteur.archives-ouvertes.fr/pasteur-03639915/document
Publikováno v:
Morphologie. 106:S21
Autor:
Livia Parodi, Khalid Hamid El Hachimi, Stéphane Zuily, Marine Legendre, Diana Rodriguez, Dario Saracino, Aleksandra Trifunovic, Silvina Perin, Nicolas Villain, Marijana Croon, Thierry Kuntzer, Mahmoud Y. Issa, Fanny Mochel, Filippo M. Santorelli, Foudil Lamari, Priscilla Thomas, Cyril Goizet, Chantal Tse, Claire Ewenczyk, Florence Fellmann, Maha S. Zaki, Arnaud Mourier, Patrick Giavalisco, Laurent Le Corre, Aurélien Trimouille, Emilie Blond, Milica Popovic, Frédéric Darios, Anastasia D. Gazi, Cyril Mignot, Isabelle Kemlin, Sophie M. Steculorum, Cécilia Marelli-Tosi, Joseph G. Gleeson, Mathilde Renaud, Claire Pujol, Jean-Luc Boucher, S. Mathieu, Shahira Elshafie, Anne Legrand, Serge Picaud, Alexandra Durr, Giulia Coarelli, Giovanni Stevanin, Manon Valet, Daniele Galatolo, Rana Alkouri, Alexandre Seyer
Publikováno v:
Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2021, 218 (11), pp.e20210846. ⟨10.1084/jem.20210846⟩
J Exp Med
Journal of Experimental Medicine, 2021, 218 (11), pp.e20210846. ⟨10.1084/jem.20210846⟩
Journal of Experimental Medicine, Rockefeller University Press, 2021, 218 (11), pp.e20210846. ⟨10.1084/jem.20210846⟩
J Exp Med
Journal of Experimental Medicine, 2021, 218 (11), pp.e20210846. ⟨10.1084/jem.20210846⟩
International audience; Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders. Understanding of their pathogenicmechanisms remains sparse, and therapeutic options are lacking. We characterized a mouse model lacking the Cyp2u1 g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::469946ff71d85dcc23b62485c5694fca
https://hal-pasteur.archives-ouvertes.fr/pasteur-03434224
https://hal-pasteur.archives-ouvertes.fr/pasteur-03434224