1 - 25 of 45 results for author:"Richard I." in Literature citations
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| Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. Lostal W., Bartoli M., Roudaut C., Bourg N., Krahn M., Pryadkina M., Borel P., Suel L., Roche J.A., Stockholm D. et al. PLoS ONE 7:e38036-e38036(2012) · Mapped (9) |
| A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. Krahn M., Wein N., Bartoli M., Lostal W., Courrier S., Bourg-Alibert N., Nguyen K., Vial C., Streichenberger N., Labelle V. et al. Sci Transl Med 2:50ra69-50ra69(2010) · UniProtKB (1) |
| A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-kappaB pathway in skeletal muscle. Laure L., Daniele N., Suel L., Marchand S., Aubert S., Bourg N., Roudaut C., Duguez S., Bartoli M., Richard I. FEBS J. 277:4322-4337(2010) · Mapped (19) |
| Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies. Charton K., Daniele N., Vihola A., Roudaut C., Gicquel E., Monjaret F., Tarrade A., Sarparanta J., Udd B., Richard I. Hum. Mol. Genet. 19:4608-4624(2010) · Mapped (44) |
| 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. 285:30304-30315(2010) · UniProtKB (5) · Mapped (12) |
| Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer. Lostal W., Bartoli M., Bourg N., Roudaut C., Bentaib A., Miyake K., Guerchet N., Fougerousse F., McNeil P., Richard I. Hum. Mol. Genet. 19:1897-1907(2010) · Mapped (6) |
| Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Bolduc V., Marlow G., Boycott K.M., Saleki K., Inoue H., Kroon J., Itakura M., Robitaille Y., Parent L., Baas F. et al. Am. J. Hum. Genet. 86:213-221(2010) · UniProtKB (1) |
| A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2a. Bertipaglia I., Bourg N., Richard I., Pahlman A.K., Andersson L., James P., Carafoli E. Cell Calcium 46:356-363(2009) · Mapped (9) |
| Calcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases. Mellgren R.L., Miyake K., Kramerova I., Spencer M.J., Bourg N., Bartoli M., Richard I., Greer P.A., McNeil P.L. Biochim. Biophys. Acta 1793:1886-1893(2009) · Mapped (11) |
| Involvement of calpains in Ca2+-induced disruption of excitation-contraction coupling in mammalian skeletal muscle fibers. Verburg E., Murphy R.M., Richard I., Lamb G.D. Am. J. Physiol., Cell Physiol. 296:C1115-22(2009) · Mapped (21) |
| Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling. Laure L., Suel L., Roudaut C., Bourg N., Ouali A., Bartoli M., Richard I., Daniele N. FEBS J. 276:669-684(2009) · Mapped (29) |
| Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Hackman P., Marchand S., Sarparanta J., Vihola A., Penisson-Besnier I., Eymard B., Pardal-Fernandez J.M., Hammouda e.l.-H., Richard I., Illa I. et al. Neuromuscul. Disord. 18:922-928(2008) · Mapped (13) |
| Analysis of the DYSF mutational spectrum in a large cohort of patients. Krahn M., Beroud C., Labelle V., Nguyen K., Bernard R., Bassez G., Figarella-Branger D., Fernandez C., Bouvenot J., Richard I. et al. |
| Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. Bartoli M., Gicquel E., Barrault L., Soheili T., Malissen M., Malissen B., Vincent-Lacaze N., Perez N., Udd B., Danos O. et al. Hum. Mol. Genet. 17:1214-1221(2008) · Mapped (3) |
| NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A. Benayoun B., Baghdiguian S., Lajmanovich A., Bartoli M., Daniele N., Gicquel E., Bourg N., Raynaud F., Pasquier M.A., Suel L. et al. FASEB J. 22:1521-1529(2008) · Mapped (18) |
| Age-related cataracts in alpha3Cx46-knockout mice are dependent on a calpain 3 isoform. Tang Y., Liu X., Zoltoski R.K., Novak L.A., Herrera R.A., Richard I., Kuszak J.R., Kumar N.M. Invest. Ophthalmol. Vis. Sci. 48:2685-2694(2007) · Mapped (16) |
| C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Carmignac V., Salih M.A.M., Quijano-Roy S., Marchand S., Al Rayess M.M., Mukhtar M.M., Urtizberea J.A., Labeit S., Guicheney P., Leturcq F. et al. |
| A mouse model for monitoring calpain activity under physiological and pathological conditions. Bartoli M., Bourg N., Stockholm D., Raynaud F., Delevacque A., Han Y., Borel P., Seddik K., Armande N., Richard I. J. Biol. Chem. 281:39672-39680(2006) · Mapped (6) |
| Type A insulin resistance syndrome revealing a novel lamin A mutation. Young J., Morbois-Trabut L., Couzinet B., Lascols O., Dion E., Bereziat V., Feve B., Richard I., Capeau J., Chanson P. et al. Diabetes 54:1873-1878(2005) · Mapped (8) |
| The kinase domain of titin controls muscle gene expression and protein turnover. Lange S., Xiang F., Yakovenko A., Vihola A., Hackman P., Rostkova E., Kristensen J., Brandmeier B., Franzen G., Hedberg B. et al. |
| Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components. Taveau M., Bourg N., Sillon G., Roudaut C., Bartoli M., Richard I. Mol. Cell. Biol. 23:9127-9135(2003) · Mapped (18) |
| Tibial muscular dystrophy in a Belgian family. Van den Bergh P.Y.K., Bouquiaux O., Verellen C., Marchand S., Richard I., Hackman P., Udd B. Ann. Neurol. 54:248-251(2003) · UniProtKB (1) |
| Force impairment in calpain 3-deficient mice is not correlated with mechanical disruption. Fougerousse F., Gonin P., Durand M., Richard I., Raymackers J.M. Muscle Nerve 27:616-623(2003) · Mapped (12) |
| Down-regulation of genes in the lysosomal and ubiquitin-proteasome proteolytic pathways in calpain-3-deficient muscle. Combaret L., Bechet D., Claustre A., Taillandier D., Richard I., Attaix D. Int. J. Biochem. Cell Biol. 35:676-684(2003) · Mapped (12) |
| Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Hackman P., Vihola A., Haravuori H., Marchand S., Sarparanta J., De Seze J., Labeit S., Witt C., Peltonen L., Richard I. et al. Am. J. Hum. Genet. 71:492-500(2002) · UniProtKB (1) · Mapped (12) |