Publications by authors named "Patrick Nusbaum"

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Epigenetic control of myogenic identity of human muscle stem cells in Duchenne muscular dystrophy.
Jimmy Massenet, Michèle Weiss-Gayet, Hina Bandukwala, Wilhelm Bouchereau, Stéphanie Gobert, Patrick Nusbaum

iScience· December 2024

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FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Sebastian Montealegre, Elise Lebigot, Hugo Debruge, Norma Romero, Bénédicte Héron, Patrick Nusbaum

Neurol Genet· February 2022

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Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
Yamina Hamel, François-Xavier Mauvais, Marine Madrange, Perrine Renard, Corinne Lebreton, Patrick Nusbaum

Cell Rep Med· August 2021

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Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Claire-Marine Bérat, Sebastian Montealegre, Arnaud Wiedemann, Malou Le Corronc Nuzum, Amélie Blondel, Patrick Nusbaum

J Inherit Metab Dis· March 2021

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Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals.
Jimmy Massenet, Cyril Gitiaux, Mélanie Magnan, Sylvain Cuvellier, Arnaud Hubas, Patrick Nusbaum

Cells· July 2020

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Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.
Cyril Gitiaux, Vincent Bondet, Nassima Bekaddour, Patrick Nusbaum, Arnaud Hubas

Rheumatology (Oxford)· May 2020

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Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.
Cyril Gitiaux, Vincent Bondet, Nassima Bekaddour, Patrick Nusbaum, Arnaud Hubas

Rheumatology (Oxford)· May 2020

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TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
Ekaterina L Ivanova, Johan G Gilet, Vadym Sulimenko, Arnaud Duchon, Gabrielle Rudolf, Patrick Nusbaum

Nat Commun· May 2019

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Myogenic Progenitor Cells Exhibit Type I Interferon-Driven Proangiogenic Properties and Molecular Signature During Juvenile Dermatomyositis.
Cyril Gitiaux, Claire Latroche, Michèle Weiss-Gayet, Mathieu P Rodero, Darragh Duffy, Patrick Nusbaum

Arthritis Rheumatol· January 2018

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Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.
Jennifer Varin, Laury Poulain, Mikael Hivelin, Patrick Nusbaum, Arnaud Hubas

Oncotarget· June 2016

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Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.
Emmanuelle Massouridès, Jérôme Polentes, Philippe-Emmanuel Mangeot, Virginie Mournetas, Juliette Nectoux, Patrick Nusbaum

Skelet Muscle· November 2015

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A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
Asmaa Mamoune, Michel Bahuau, Yamina Hamel, Valérie Serre, Michele Pelosi, Patrick Nusbaum

PLoS Genet· November 2014

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Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.
Juliette Nectoux, Yann Fichou, Nicolas Cagnard, Nadia Bahi-Buisson, Patrick Nusbaum

J Mol Med (Berl)· February 2011

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The cleavage of neutrophil leukosialin (CD43) by cathepsin G releases its extracellular domain and triggers its intramembrane proteolysis by presenilin/gamma-secretase.
Agnès Mambole, Dominique Baruch, Patrick Nusbaum, Sylvain Bigot, Misa Suzuki

J Biol Chem· August 2008

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Rapamycin inhibits human renal epithelial cell proliferation: effect on cyclin D3 mRNA expression and stability.
Nicolas Pallet, Eric Thervet, Delphine Le Corre, Bertrand Knebelmann, Patrick Nusbaum

Kidney Int· June 2005

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Distinct signaling pathways are involved in leukosialin (CD43) down-regulation, membrane blebbing, and phospholipid scrambling during neutrophil apoptosis.
Patrick Nusbaum, Claudianne Lainé, Mohamed Bouaouina, Stéphanie Seveau, Elisabeth M Cramer

J Biol Chem· February 2005

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Apoptosis-induced proteinase 3 membrane expression is independent from degranulation.
Stéphanie Durant, Magali Pederzoli, Yves Lepelletier, Sandrine Canteloup, Patrick Nusbaum

J Leukoc Biol· January 2004

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Beta4 integrin and laminin 5 are aberrantly expressed in polycystic kidney disease: role in increased cell adhesion and migration.
Dominique Joly, Viviane Morel, Aurélie Hummel, Antonella Ruello, Patrick Nusbaum

Am J Pathol· November 2003

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