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Auteur Guicheney P |
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Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy.
Trochet D, Prudhon B, Beuvin M, et al.
EMBO Molecular Medicine, 2017, Epub, 15 p.
Revue : EMBO Molecular Medicine, Epub Titre : Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy. Type de document : Article Auteurs : Trochet D, Auteur ; Prudhon B, Auteur ; Beuvin M, Auteur ; Peccate C, Auteur ; Lorain S, Auteur ; Julien L, Auteur ; Benkhelifa-Ziyyat S, Auteur ; Rabai A, Auteur ; Mamchaoui K, Auteur ; Ferry A, Auteur ; Laporte J, Auteur ; Guicheney P, Auteur ; Vassilopoulos S, Auteur ; Bitoun M, Auteur Année de publication : 15/12/2017 Pages : 15 p. Langues : Anglais (eng) Mots-clés : dynamine 2 ; essai préclinique ; fibroblaste ; gène DNM2 ; interférence ARN ; mutation génétique ; myopathie centronucléaire ; myopathie centronucléaire autosomique dominante ; myopathie centronucléaire autosomique dominante liée à dynamine 2 ; perspective thérapeutique ; silencing d'allèle ; souris modèle Pubmed / DOI : DOI : 10.15252/emmm.201707988 / Pubmed : 29246969
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29246969 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.
González-Jamett AM, Baez-Matus X, Olivares MJ, et al.
Scientific Reports, 2017, 7,1, 16 p.
Revue : Scientific Reports, 7,1 Titre : Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells. Type de document : Article Auteurs : González-Jamett AM ; Baez-Matus X ; Olivares MJ ; Hinostroza F ; Guerra-Fernández MJ ; Vasquez-Navarrete J ; Bui MT ; Guicheney P ; Romero NB ; Bevilacqua JA ; Bitoun M ; Caviedes P ; Cardenas AM Année de publication : 04/07/2017 Pages : 16 p. Langues : Anglais (eng) Mots-clés : actine ; dynamine 2 ; fibre musculaire ; histopathologie musculaire ; muscle squelettique ; mutation génétique ; myoblaste ; myopathie centronucléaire autosomique dominante liée à dynamine 2 ; physiopathologie ; souris modèle ; transport intracellulaire ; transporteur de glucose ; transporteur membranaire Pubmed / DOI : DOI : 10.1038/s41598-017-04418-w / Pubmed : 28676641
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/28676641 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy.
Fraysse B, Guicheney P, Bitoun M
Biology open, 2016, 5, 11, p. 1691-1696
Revue : Biology open, 5, 11 Titre : Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy. Type de document : Article Auteurs : Fraysse B ; Guicheney P ; Bitoun M Année de publication : 15/11/2016 Pages : p. 1691-1696 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1242/bio.020263 / Pubmed : 27870637
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/27870637 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern
Hankiewicz K, Carlier RY, Lazaro L, et al.
Muscle & Nerve, 2015, 52, 5, p. 728-35
Revue : Muscle & Nerve, 52, 5 Titre : Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern Type de document : Article Auteurs : Hankiewicz K ; Carlier RY ; Lazaro L ; Linzoain J ; Barnerias C ; Gómez-Andrés D ; Avila-Smirnow D ; Ferreiro A ; Estournet B ; Guicheney P ; Germain DP ; Richard P ; Bulacio S ; Mompoint D ; Quijano-Roy S Année de publication : 11/2015 Pages : p. 728-35 Langues : Anglais (eng) Mots-clés : cou ; cuisse ; diagnostic ; dystrophie musculaire congénitale ; étude observationnelle ; gène SEPN1 ; IRM corps entier ; muscle squelettique ; sélénoprotéine (maladie neuromusculaire liée à) Résumé : To delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM), we performed whole body MRI (WBMRI) in 9 patients using T1-weighted turbo spin echo (T1-TSE) sequences and short tau inversion recovery (STIR) in 5.
RESULTS: Analysis of signal and volume abnormalities by T1-TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected.
DISCUSSION: WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogenous, recognizable pattern in SEPN1-RM, distinct from other genetic muscle diseases.Pubmed / DOI : DOI : 10.1002/mus.24634 / Pubmed : 25808192
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/25808192 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of ?-dystroglycan in Cells and Tissues.
Inamori KI, Willer T, Hara Y, et al.
The Journal of biological chemistry, 2014, Epub
Revue : The Journal of biological chemistry, Epub Titre : Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of ?-dystroglycan in Cells and Tissues. Type de document : Article Auteurs : Inamori KI ; Willer T ; Hara Y ; Venzke D ; Anderson ME ; Clarke NF ; Guicheney P ; Bonnemann CG ; Moore SA ; Campbell KP Année de publication : 19/08/2014 Langues : Anglais (eng) Mots-clés : étude transversale Résumé : Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities. Both LARGE and its paralog, LARGE2 (also referred to as GYLTL1B) are bifunctional glycosyltransferases with xylosyltransferase (Xyl-T) and glucuronyltransferase (GlcA-T) activities, and are capable of forming polymers consisting of [-3Xyl-?1,3GlcA?1-] repeats. LARGE-dependent modification of ?-dystroglycan (?-DG) with these polysaccharides is essential for the ability of ?-DG to act as a receptor for ligands in the extracellular matrix. Here we report on the endogenous enzymatic activities of LARGE and LARGE2 in mice and humans, using a newly developed assay for GlcA-T activity. We show that normal mouse and human cultured cells have endogenous LARGE GlcA-T, and that this activity is absent in cells from the Largemyd (Large-deficient) mouse model of muscular dystrophy, as well as in cells from CMD patients with mutations in the LARGE gene. We also demonstrate that GlcA-T activity is significant in the brain, heart, and skeletal muscle of wild-type and Large2-/- mice, but negligible in the corresponding tissues of the Largemyd mice. Notably, GlcA-T activity is substantial, though reduced, in the kidneys of both the Largemyd and Large2-/- mice, consistent with the observation of ?-DG/laminin binding in these contexts. This study is the first to test LARGE activity in samples as small as cryosections and, moreover, provides the first direct evidence that not only LARGE, but also LARGE2, is vital to effective functional modification of ?-DG in vivo. Pubmed / DOI : DOI : 10.1074/jbc.M114.597831 / Pubmed : 25138275
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/25138275 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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La découverte de la déficience en Mérosine : contribution à l'histoire des DMC
Tomé F, Guicheney P, Fardeau M
Les Cahiers de Myologie, 2013, 9, p. 5-7
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Role of dynamin 2 in the disassembly of focal adhesions
Brinas L, Vassilopoulos S, Bonne G, et al.
J Mol Med (Berl), 2013, 91, 7, p. 803-809
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An alternative mechanism of clathrin-coated pit closure revealed by ion conductance microscopy
Shevchuk AI, Novak P, Taylor M, et al.
Journal of cell biology, 2012, 197, 4, p. 499-508
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Selenoprotein N in skeletal muscle: from diseases to function
Castets P, Lescure A, Guicheney P, et al.
Journal of molecular medicine, 2012, 90, 10, p. 1095-1107
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
Böhm J, Biancalana V, DeChene ET, et al.
Human mutation, 2012, 33, 6, p. 949-959
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A centronuclear myopathy-dynamin 2 mutation impairs autophagy in mice
Durieux AC, Vassilopoulos S, Lainé J, et al.
Traffic, 2012, 13, 6, p. 869-879
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Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy
Rederstorff M, Castets P, Arbogast S, et al.
PLoS ONE, 2011, 6, 8, e23094, 13 p.
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"Core-rod myopathy" non associé au gène RYR1 : Poster M8 présenté lors des IXèmes Journées Annuelles de la Société française de Myologie (SFM) 3-5 novembre 2011 Angers
Malfatti E, Taratuto AL, Monges S, et al.
2011, p 52
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Satellite cell loss and impaired muscle regeneration in selenoproteinndeficiency (poster)
Castets P, Bertrand A, Beuvin M, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 143
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A centronuclear myopathy-dynamin2 mutation impairs autophagy in mice
Durieux AC, Vassilopoulos S, Lainé J, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 59
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Accumulation of unassembled collagen VI in endoplasmic reticulum does not induce the unfolded protein response in fibroblasts from patients with collagen VI-myopathy (poster)
Allamand V, Lainé J, Brinas L, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 57
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Neuroimaging findings in three patients with FKRP-related muscular dystrophy
Makri S, Salhi S, Richard P, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 56
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Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene
Clarke NF, Maugenre S, Vandebrouck A, et al.
European journal of human genetics, 2011, 19, 4, p. 452-457
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Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency
Castets P, Bertrand AT, Beuvin M, et al.
Human molecular genetics, 2011, 20, 4, p. 694-704
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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalisation and large areas of myofibrillar disorganisation
Bevilacqua JA, Monnier N, Bitoun M, et al.
Neuropathology and applied neurobiology, 2011, 37, 3, p 271
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Early onset collagen VI myopathies : genetic and clinical correlations
Brinas L, Richard P, Quijano-Roy S, et al.
Annals of neurology, 2010, 68, 4, p. 511-520
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Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
Schoenmakers E, Agostini M, Mitchell C, et al.
The Journal of clinical investigation, 2010, 120, 12, p. 4220-4235
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A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice
Durieux AC, Vignaud A, Prudhon B, et al.
Human molecular genetics, 2010, 19, 24, p. 4820-4836
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POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies
Endo T, Manya H, Seta N, et al.
Methods in enzymology, 2010, 479, p. 343-352
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Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern
Deconinck N, Dion E, Ben Yaou R, et al.
Neuromuscular disorders : NMD, 2010, 20, 8, p. 517-523
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