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 > MYOBASE > PRODUITS CHIMIQUES ET BIOLOGIQUES > protéine > enzyme > hydrolase > protéase > calpaïne > calpaïne 3
calpaïne 3
Commentaire :
Enzyme protéolytique du muscle squelettique jouant un rôle clef dans le remodelage du sarcomère.
Protéine localisée dans le sarcomère. Synonyme(s)CAPN 3 ;CAPN3 ;p94 calpain 3Voir aussi |
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Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A
Lostal W, Roudaut C, Faivre M, et al.
Science translational medicine, 2019, 11, 520
233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15-17 September 2017
Lostal W, Urtizberea JA, Richard I
Neuromuscular disorders : NMD, 2018
Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation
Pantoja-Melendez CA, Miranda-Duarte A, Roque-Ramirez B, et al.
PLoS ONE, 2017, 12, 1
Dystrophie musculaire des ceintures avec déficit en calpaïne 3 : un mode de transmission inédit.
Urtizberea JA
2016
Myology 2016 : 5th International Congress of Myology ; Posters n° 388 to 423 - Young Investigator Posters
Congrès : 5th International Congress of Myology (14-18 March 2016; Centre convention, Lyon, France)
2016, p. 205-222
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy
Vissing J, Barresi R, Witting N, et al.
Brain : a journal of neurology, 2016, 139, Pt8, p 2154
Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy)
Kramerova I, Ermolova N, Eskin A, et al.
Human molecular genetics, 2016, 25, 11, p 2194
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy
de Cid R, Ben Yaou R, Roudaut C, et al.
Neurology, 2015, 85, 24, p 2126
The N- and C-terminal autolytic fragments of CAPN3/p94/calpain-3 restore proteolytic activity by intermolecular complementation
Ono Y, Shindo M, Doi N, et al.
Proceedings of the national Academy of sciences of the United States of America, 2014, 111, 51, p E5527
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, et al.
Circulation, 2013, 128, 10, p. 1094-1104
Muscle pathology in 31 patients with calpain 3 gene mutations
Nadaj-Pakleza AA, Dorobek M, Nestorowicz K, et al.
Neurologia i neurochirurgia polska, 2013, 47, 3, p. 214-222
An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps
Fanin M, Benedicenti F, Fritegotto C, et al.
Clinical genetics, 2012, 82, 6, p. 601-602
The diagnostic utility of a commercial limb-girdle muscular dystrophy gene test panel
Ghosh PS, Zhou L
Journal of clinical neuromuscular disease, 2012, 14, 2, p. 86-87
Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A
Luo SS, Xi JY, Zhu WH, et al.
Muscle & Nerve, 2012, 46, 5, p. 723-729
C3KO mouse expression analysis : downregulation of the muscular dystrophy Ky protein and alterations in muscle aging
Jaka O, Kramerova I, Azpitarte M, et al.
Neurogenetics, 2012, 13, 4, p. 347-357
Animal models of muscular dystrophy
Ng R, Banks GB, Hall JK, et al.
Progress in molecular biology and translational science, 2012, 105, p. 83-111
Eosinophilic infiltration related to CAPN3 mutations : a pathophysiological component of primary calpainopathy ?
Krahn M, Goicoechea M, Hanish F, et al.
Clinical genetics, 2011, 80, 4, p. 398-402
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches
Nigro V, Aurino S, Piluso G
Curr Opin Neurol, 2011, 24, 5, p. 429-436
Muscular dystrophy with marked dysferlin deficiency is consistently caused by primary dysferlin gene mutations
Cacciottolo M, Numitone G, Aurino S, et al.
European journal of human genetics, 2011, 19, 9, p. 974-980
Limb-girdle muscular dystrophy 2A
Gallardo E, Saenz A, Illa I
Handbook of Clinical Neurology (Muscular Dystrophies), 2011, 101, 3rd series, cha, p. 97-110, p. 6
Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3
Ermolova N, Kudryashova E, DiFranco M, et al.
Human molecular genetics, 2011, 20, 17, p. 3331-3345
Reverse protein arrays as novel approach for protein quantification in muscular dystrophies
Escher C, Lochmuller H, Fischer D, et al.
Neuromuscular disorders : NMD, 2010, 20, 5, p. 302-309
Une contribution à l'histoire de la découverte des calpaïnopathies
Urtizberea JA, Kaplan JC
Les Cahiers de Myologie, 2010, 2, p. 5-10
Calpains, skeletal muscle function and exercise
Murphy RM
Clinical and experimental pharmacology and physiology, 2010, 37, 3, p. 385-391
