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Items: 15


Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.

Lostal W, Roudaut C, Faivre M, Charton K, Suel L, Bourg N, Best H, Smith JE, Gohlke J, Corre G, Li X, Elbeck Z, Knöll R, Deschamps JY, Granzier H, Richard I.

Sci Transl Med. 2019 Nov 27;11(520). pii: eaat6072. doi: 10.1126/scitranslmed.aat6072.


Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

Vihola A, Luque H, Savarese M, Penttilä S, Lindfors M, Leturcq F, Eymard B, Tasca G, Brais B, Conte T, Charton K, Richard I, Udd B.

Neuropathol Appl Neurobiol. 2018 Aug;44(5):441-448. doi: 10.1111/nan.12410. Epub 2017 Jun 6.


AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.

Gicquel E, Maizonnier N, Foltz SJ, Martin WJ, Bourg N, Svinartchouk F, Charton K, Beedle AM, Richard I.

Hum Mol Genet. 2017 May 15;26(10):1952-1965. doi: 10.1093/hmg/ddx066.


Exploiting the CRISPR/Cas9 system to study alternative splicing in vivo: application to titin.

Charton K, Suel L, Henriques SF, Moussu JP, Bovolenta M, Taillepierre M, Becker C, Lipson K, Richard I.

Hum Mol Genet. 2016 Oct 15;25(20):4518-4532. doi: 10.1093/hmg/ddw280.


Circulating miRNAs are generic and versatile therapeutic monitoring biomarkers in muscular dystrophies.

Israeli D, Poupiot J, Amor F, Charton K, Lostal W, Jeanson-Leh L, Richard I.

Sci Rep. 2016 Jun 21;6:28097. doi: 10.1038/srep28097.


A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

De Cid R, Ben Yaou R, Roudaut C, Charton K, Baulande S, Leturcq F, Romero NB, Malfatti E, Beuvin M, Vihola A, Criqui A, Nelson I, Nectoux J, Ben Aim L, Caloustian C, Olaso R, Udd B, Bonne G, Eymard B, Richard I.

Neurology. 2015 Dec 15;85(24):2126-35. doi: 10.1212/WNL.0000000000002200. Epub 2015 Nov 18.


A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence.

Pryadkina M, Lostal W, Bourg N, Charton K, Roudaut C, Hirsch ML, Richard I.

Mol Ther Methods Clin Dev. 2015 Mar 25;2:15009. doi: 10.1038/mtm.2015.9. eCollection 2015.


CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

Charton K, Sarparanta J, Vihola A, Milic A, Jonson PH, Suel L, Luque H, Boumela I, Richard I, Udd B.

Hum Mol Genet. 2015 Jul 1;24(13):3718-31. doi: 10.1093/hmg/ddv116. Epub 2015 Apr 15.


Cis-splicing and translation of the pre-trans-splicing molecule combine with efficiency in spliceosome-mediated RNA trans-splicing.

Monjaret F, Bourg N, Suel L, Roudaut C, Le Roy F, Richard I, Charton K.

Mol Ther. 2014 Jun;22(6):1176-1187. doi: 10.1038/mt.2014.35. Epub 2014 Mar 12.


Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy.

Roudaut C, Le Roy F, Suel L, Poupiot J, Charton K, Bartoli M, Richard I.

Circulation. 2013 Sep 3;128(10):1094-104. doi: 10.1161/CIRCULATIONAHA.113.001340. Epub 2013 Aug 1.


The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5.

Monjaret F, Suel-Petat L, Bourg-Alibert N, Vihola A, Marchand S, Roudaut C, Gicquel E, Udd B, Richard I, Charton K.

Hum Gene Ther Clin Dev. 2013 Jun;24(2):65-76. doi: 10.1089/humc.2012.217. Epub 2013 May 30.


A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.

Blandin G, Marchand S, Charton K, Danièle N, Gicquel E, Boucheteil JB, Bentaib A, Barrault L, Stockholm D, Bartoli M, Richard I.

Skelet Muscle. 2013 Feb 15;3(1):3. doi: 10.1186/2044-5040-3-3.


Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.

Charton K, Danièle N, Vihola A, Roudaut C, Gicquel E, Monjaret F, Tarrade A, Sarparanta J, Udd B, Richard I.

Hum Mol Genet. 2010 Dec 1;19(23):4608-24. doi: 10.1093/hmg/ddq388. Epub 2010 Sep 20.


Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.

Sarparanta J, Blandin G, Charton K, Vihola A, Marchand S, Milic A, Hackman P, Ehler E, Richard I, Udd B.

J Biol Chem. 2010 Sep 24;285(39):30304-15. doi: 10.1074/jbc.M110.108720. Epub 2010 Jul 15.


RNA-targeting approaches for neuromuscular diseases.

Le Roy F, Charton K, Lorson CL, Richard I.

Trends Mol Med. 2009 Dec;15(12):580-91. doi: 10.1016/j.molmed.2009.10.005. Epub 2009 Nov 10. Review.


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