Pathophysiology of neuromuscular diseases
Team Leader : Jocelyn LAPORTE
Department : Translational medecine and neurogenetics
Jocelyn LAPORTE
Researcher
Inserm research director
jocelyn.laporte@igbmc.fr
Research team(s)
Research subgroup(s)
Publications
2023
Therapeutic approaches in different congenital myopathies
- Charlotte Gineste
- Jocelyn Laporte
Current Opinion in Pharmacology ; Volume: 68 ; Page: 102328
2022
Tamoxifen improves muscle structure and function of <i>Bin1</i> - and <i>Dnm2</i> -related centronuclear myopathies
- Charlotte Gineste
- Alix Simon
- Marie Braun
- David Reiss
- Jocelyn Laporte
Brain - A Journal of Neurology
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
- Hong Joo Kim
- Payam Mohassel
- Sandra Donkervoort
- Lin Guo
- Kevin O’donovan
- Maura Coughlin
- Xaviere Lornage
- Nicola Foulds
- Simon Hammans
- A. Reghan Foley
- Charlotte Fare
- Alice Ford
- Masashi Ogasawara
- Aki Sato
- Aritoshi Iida
- Pinki Munot
- Gautam Ambegaonkar
- Rahul Phadke
- Dominic O’donovan
- Rebecca Buchert
- ...
Nature Communications ; Volume: 13 ; Page: 2306
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy
- Raquel Gomez Oca
- Evelina Edelweiss
- Sarah Djeddi
- Mathias Gerbier
- Xènia Massana Munoz
- Mustapha Oulad-Abdelghani
- Corinne Crucifix
- Coralie Spiegelhalter
- Nadia Messaddeq
- Pierre Poussin-Courmontagne
- Pascale Koebel
- Belinda Cowling
- Jocelyn Laporte
Nature Communications ; Volume: 13
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
- Hong Joo Kim
- Payam Mohassel
- Sandra Donkervoort
- Lin Guo
- Kevin O’donovan
- Maura Coughlin
- Xaviere Lornage
- Nicola Foulds
- Simon R Hammans
- A. Reghan Foley
- Charlotte M Fare
- Alice F Ford
- Masashi Ogasawara
- Aki Sato
- Aritoshi Iida
- Pinki Munot
- Gautam Ambegaonkar
- Rahul Phadke
- Dominic G O’donovan
- Rebecca Buchert
- ...
Nature Communications ; Volume: 13 ; Page: 2306
BIN1 modulation in vivo rescues dynamin-related myopathy
- Valentina Maria Lionello
- Christine Kretz
- Evelina Edelweiss
- Corinne Crucifix
- Raquel Gómez-Oca
- Nadia Messaddeq
- Suzie Buono
- Pascale Koebel
- Xènia Massana Muñoz
- Nadège Diedhiou
- Belinda Cowling
- Marc Bitoun
- Jocelyn Laporte
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 119
Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice
- Roberto Silva-Rojas
- Laura Pérez-Guàrdia
- Emma Lafabrie
- David Moulaert
- Jocelyn Laporte
- Johann Böhm
International Journal of Molecular Sciences ; Volume: 23 ; Page: 6968
A dog model for centronuclear myopathy (CNM) carrying the most common DNM2 mutation
- Johann Böhm
- Inès Barthélémy
- Charlène Landwerlin
- Nicolas Blanchard-Gutton
- Frédéric Relaix
- Stéphane Blot
- Jocelyn Laporte
- Laurent Tiret
Disease Models & Mechanisms ; Volume: 15 ; Page: dmm049219
2021
Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances
- Raquel Gómez-Oca
- Belinda Cowling
- Jocelyn Laporte
International Journal of Molecular Sciences ; Volume: 22 ; Page: 11377
Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes
- Roberto Silva-Rojas
- Vasugi Nattarayan
- Francisco Jaque-Fernandez
- Raquel Gomez-Oca
- Alexia Menuet
- David Reiss
- Marie Goret
- Nadia Messaddeq
- Valentina M Lionello
- Christine Kretz
- Belinda S Cowling
- Vincent Jacquemond
- Jocelyn Laporte
Molecular Therapy