Limb-girdle muscular dystrophies (LGMD) are a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area). To date, 33 different forms of LGMDs were discovered according to the mutated gene and their inheritance pattern.
At I-Stem we are using pluripotent stem cells to study and identify treatments of LGMDs caused by mutation the genes coding for alpha sarcoglycan, gamma sarcoglycan, FKRP and dysferlin. Our main goal to identify new drug candidates by high throughput screening and drug repurposing.
|Xavier Nissan : Research Director (CECS)|
|Lucile Hoch : Researcher (CECS)|
|Celine Bruge : Engineer / Phd Student (CECS)|
|Manon Benabides : Engineer (CECS)|
|Emilie Pellier : Engineer CECS|
|Lucille Rossiaud : Engineer CECS|
Former members :
- Marine Geoffroy (Engineer UEVE)
- Eddy Quelennec (Engineer UEVE)
- Identification of thiostrepton as a pharmacological approach to rescue misfolded alpha-sarcoglycan mutant proteins from degradation.
Hoch L, Henriques SF, Bruge C, Marsolier J, Benabides M, Bourg N, Tournois J, Mahé G, Morizur L, Jarrige M, Bigot A, Richard I, Nissan X. Sci Rep. 2019 May 6;9(1):6915