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74 results

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Page 1
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. Garibaldi M, et al. Among authors: marty i. Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. Acta Neuropathol Commun. 2019. PMID: 30611313 Free PMC article.
We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of 48 genetically confirmed patients, using histoenzymology, immunohistochemistry, and ultrastructural studies. We also analysed th …
We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a larg …
Gene therapies for RyR1-related myopathies.
Marty I, Beaufils M, Fauré J, Rendu J. Marty I, et al. Curr Opin Pharmacol. 2023 Feb;68:102330. doi: 10.1016/j.coph.2022.102330. Epub 2022 Dec 16. Curr Opin Pharmacol. 2023. PMID: 36529094 Review.
Excitation-Contraction Coupling Alterations in Myopathies.
Marty I, Fauré J. Marty I, et al. J Neuromuscul Dis. 2016 Nov 29;3(4):443-453. doi: 10.3233/JND-160172. J Neuromuscul Dis. 2016. PMID: 27911331 Free PMC article. Review.
This process, referred to as excitation-contraction coupling, is reliant upon the calcium-release complex, which is restricted spatially to a sub-compartment of muscle cells ("the triad") and regulated precisely. Any dysfunction in the calcium-release complex leads to m …
This process, referred to as excitation-contraction coupling, is reliant upon the calcium-release complex, which is restricted spatially to …
Huntingtin regulates calcium fluxes in skeletal muscle.
Chivet M, McCluskey M, Nicot AS, Brocard J, Beaufils M, Giovannini D, Giannesini B, Poreau B, Brocard J, Humbert S, Saudou F, Fauré J, Marty I. Chivet M, et al. Among authors: marty i. J Gen Physiol. 2023 Jan 2;155(1):e202213103. doi: 10.1085/jgp.202213103. Epub 2022 Nov 21. J Gen Physiol. 2023. PMID: 36409218 Free PMC article.
The expression of the Huntingtin protein, well known for its involvement in the neurodegenerative Huntington's disease, has been confirmed in skeletal muscle. The impact of HTT deficiency was studied in human skeletal muscle cell lines and in a mouse model with indu …
The expression of the Huntingtin protein, well known for its involvement in the neurodegenerative Huntington's disease, has been confirmed i …
RyR1 Is Involved in the Control of Myogenesis.
Tourel A, Reynaud-Dulaurier R, Brocard J, Fauré J, Marty I, Petiot A. Tourel A, et al. Among authors: marty i. Cells. 2025 Jan 21;14(3):158. doi: 10.3390/cells14030158. Cells. 2025. PMID: 39936950 Free PMC article.
The RyR1 calcium release channel is a key player in skeletal muscle excitation-contraction coupling. Mutations in the RYR1 gene are associated with congenital myopathies. ...Therefore, our findings indicate that, besides its pivotal role as a calcium channel responsible fo …
The RyR1 calcium release channel is a key player in skeletal muscle excitation-contraction coupling. Mutations in the RYR1 gene are a …
Triadin regulation of the ryanodine receptor complex.
Marty I. Marty I. J Physiol. 2015 Aug 1;593(15):3261-6. doi: 10.1113/jphysiol.2014.281147. Epub 2014 Oct 20. J Physiol. 2015. PMID: 26228554 Free PMC article. Review.
The calcium release complex is the major player in excitation-contraction coupling, both in cardiac and skeletal muscle. The core of the complex is the ryanodine receptor, and triadin is a regulating protein. ...Besides its function in the anchoring of calsequestrin at the …
The calcium release complex is the major player in excitation-contraction coupling, both in cardiac and skeletal muscle. The core of …
Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation.
Lemerle E, Lainé J, Benoist M, Moulay G, Bigot A, Labasse C, Madelaine A, Canette A, Aubin P, Vallat JM, Romero NB, Bitoun M, Mouly V, Marty I, Cadot B, Picas L, Vassilopoulos S. Lemerle E, et al. Among authors: marty i. Elife. 2023 Apr 21;12:e84139. doi: 10.7554/eLife.84139. Elife. 2023. PMID: 37083699 Free PMC article.
Although the precise mechanisms governing T-tubule biogenesis and triad formation remain largely unknown, studies have shown that caveolae participate in T-tubule formation and mutations of several of their constituents induce muscle weakness and myopathies. Here, we demon …
Although the precise mechanisms governing T-tubule biogenesis and triad formation remain largely unknown, studies have shown that caveolae p …
In vivo RyR1 reduction in muscle triggers a core-like myopathy.
Pelletier L, Petiot A, Brocard J, Giannesini B, Giovannini D, Sanchez C, Travard L, Chivet M, Beaufils M, Kutchukian C, Bendahan D, Metzger D, Franzini Armstrong C, Romero NB, Rendu J, Jacquemond V, Fauré J, Marty I. Pelletier L, et al. Among authors: marty i. Acta Neuropathol Commun. 2020 Nov 11;8(1):192. doi: 10.1186/s40478-020-01068-4. Acta Neuropathol Commun. 2020. PMID: 33176865 Free PMC article.
We have developed and characterized a mouse model with inducible muscle specific RYR1 deletion. Tamoxifen-induced recombination in the RYR1 gene at adult age resulted in a progressive reduction in the protein amount reaching a stable level of 50% of the initial amount, and …
We have developed and characterized a mouse model with inducible muscle specific RYR1 deletion. Tamoxifen-induced recombination in th …
Quantification of the calcium signaling deficit in muscles devoid of triadin.
Manno C, Tammineni E, Figueroa L, Marty I, Ríos E. Manno C, et al. Among authors: marty i. PLoS One. 2022 Feb 25;17(2):e0264146. doi: 10.1371/journal.pone.0264146. eCollection 2022. PLoS One. 2022. PMID: 35213584 Free PMC article.
Triadin, a protein of the sarcoplasmic reticulum (SR) of striated muscles, anchors the calcium-storing protein calsequestrin to calcium release RyR channels at the junction with t-tubules, and modulates these channels by conformational effects. ...Together, they effectivel …
Triadin, a protein of the sarcoplasmic reticulum (SR) of striated muscles, anchors the calcium-storing protein calsequestrin to calci …
74 results