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
2022
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
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
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
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
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
Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure
- Roberto Silva-Rojas
- Anne-Laure Charles
- Sarah Djeddi
- Bernard Geny
- Jocelyn Laporte
- Johann Böhm
Cells ; Volume: 10 ; Page: 1730
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)
- Daniel Klionsky
- Amal Kamal Abdel-Aziz
- Sara Abdelfatah
- Mahmoud Abdellatif
- Asghar Abdoli
- Steffen Abel
- Hagai Abeliovich
- Marie Abildgaard
- Yakubu Princely Abudu
- Abraham Acevedo-Arozena
- Iannis Adamopoulos
- Khosrow Adeli
- Timon Adolph
- Annagrazia Adornetto
- Elma Aflaki
- Galila Agam
- Anupam Agarwal
- Bharat Aggarwal
- Maria Agnello
- Patrizia Agostinis
- ...
Autophagy ; Volume: 17 ; Page: 1-382
Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies
- Sarah Djeddi
- David Reiss
- Alexia Menuet
- Sébastien Freismuth
- Juliana de Carvalho Neves
- Sarah Djerroud
- Xènia Massana Munoz
- Anne-Sophie Sosson
- Christine Kretz
- Wolfgang Raffelsberger
- Céline Keime
- Olivier M. Dorchies
- Julie Thompson
- Jocelyn Laporte
Molecular Therapy