LGMD

Equipe:

Xavier Nissan : Team leader (CECS)

Lucile Hoch: Researcher (CECS)

Celine Bruge: PhD student (CECS)

Marine Geoffroy:  Postdoc (UEVE)

Solenn Guilbert: Postdoc (CECS)

Manon Benabides : Technician (CECS)

 

 

 

 

 

 

 

 

Our research:

Limb-girdle muscular dystrophy (LGMD) is a diverse group of disorders with many subtypes categorized by disease gene and inheritance. LGMD usually manifests in the proximal muscles around the hips and shoulders.

There are two major groups of LGMDs. Called LGMD1 and LGMD2, these two groups are classified by the respective inheritance patterns: autosomal dominant and autosomal recessive. If one copy of the abnormal gene is sufficient to cause the disease, it is said to be autosomal dominant; if two copies are needed then the inheritance pattern is autosomal recessive. For more details on the various inheritance patterns, see the NIH Genetics Home Reference.

At I-Stem we are working on LGMD 2D, 2I et 2B with the goal to identify potential new drug candidates by combining pluripotent stem cells and high throughput screening.

 

Our publications :

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

 

For more details:

https://www.afm-telethon.fr/myopathie-ceintures-1390 

https://lgmd.afm-telethon.fr/

 

Our collaborations:

  • Nicolas Lévy (UMR 910)
  • Isabelle Richard (Genethon)
  • Antoine Muchir (Institut de myologie)
  • Noah Weisleder (Ohio state university)