Isabelle Marty
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Explore the profile of Isabelle Marty including associated specialties, affiliations and a list of published articles.
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63
Citations
1317
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Recent Articles
1.
Tourel A, Reynaud-Dulaurier R, Brocard J, Faure J, Marty I, Petiot A
Cells
. 2025 Feb;
14(3).
PMID: 39936950
The RyR1 calcium release channel is a key player in skeletal muscle excitation-contraction coupling. Mutations in the gene are associated with congenital myopathies. Recently, a role of RyR1 in myotubes...
2.
Reynaud Dulaurier R, Brocard J, Rendu J, Debbah N, Faure J, Marty I
Med Sci (Paris)
. 2024 Nov;
40 Hors série n° 1:30-33.
PMID: 39555874
Genetic screening of rare diseases allows identification of the responsible gene(s) in about 50% of patients. The remaining cases are in a diagnostic deadlock as current knowledge fails to identify...
3.
Beaufils M, Melka M, Brocard J, Benoit C, Debbah N, Mamchaoui K, et al.
Mol Ther Nucleic Acids
. 2024 Jul;
35(3):102259.
PMID: 39071953
More than 700 pathogenic or probably pathogenic variations have been identified in the gene causing various myopathies collectively known as "-related myopathies." There is no treatment for these myopathies, and...
4.
Clemens D, Ye D, Wang L, Kim C, Zhou W, Dotzler S, et al.
Stem Cell Reports
. 2023 May;
18(5):1075-1089.
PMID: 37163978
Triadin knockout syndrome (TKOS) is a malignant arrhythmia disorder caused by recessive null variants in TRDN-encoded cardiac triadin. Induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) were generated from two unrelated TKOS...
5.
Lemerle E, Laine J, Benoist M, Moulay G, Bigot A, Labasse C, et al.
Elife
. 2023 Apr;
12.
PMID: 37083699
Excitation-contraction coupling requires a highly specialized membrane structure, the triad, composed of a plasma membrane invagination, the T-tubule, surrounded by two sarcoplasmic reticulum terminal cisternae. Although the precise mechanisms governing...
6.
Marty I, Beaufils M, Faure J, Rendu J
Curr Opin Pharmacol
. 2022 Dec;
68:102330.
PMID: 36529094
Myopathies related to variations in the RYR1 gene are genetic diseases for which the therapeutic options are sparse, in part because of the very large size of the gene and...
7.
Chivet M, McCluskey M, Nicot A, Brocard J, Beaufils M, Giovannini D, et al.
J Gen Physiol
. 2022 Nov;
155(1).
PMID: 36409218
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...
8.
Wleklinski M, Kryshtal D, Kim K, Parikh S, Blackwell D, Marty I, et al.
Circ Res
. 2022 Sep;
131(8):673-686.
PMID: 36102198
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal cardiac arrhythmia syndrome triggered by catecholamines released during exercise, stress, or sudden emotion. Variants in the calsequestrin-2 gene (), encoding...
9.
Beaufils M, Tourel A, Petiot A, Halmai N, Segal D, Rendu J, et al.
J Vis Exp
. 2022 Jul;
(184).
PMID: 35781470
One important application of clustered regulatory interspaced short palindromic repeats (CRISPR)/Cas 9 is the development of knock-out cell lines, specifically to study the function of new genes/proteins associated with a...
10.
Manno C, Tammineni E, Figueroa L, Marty I, Rios E
PLoS One
. 2022 Feb;
17(2):e0264146.
PMID: 35213584
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...