Detalhe da pesquisa
1.
Impaired Dynamic Sarcoplasmic Reticulum Ca Buffering in Autosomal Dominant CPVT2.
Circ Res
; 131(8): 673-686, 2022 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36102198
2.
SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.
Hum Mol Genet
; 29(24): 3882-3891, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33355670
3.
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
J Med Genet
; 58(9): 602-608, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32994279
4.
Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse.
Mol Ther
; 28(1): 171-179, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607542
5.
Triadin and CLIMP-63 form a link between triads and microtubules in muscle cells.
J Cell Sci
; 129(20): 3744-3755, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27562070
6.
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
Hum Mutat
; 38(2): 152-159, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27790796
7.
Triadin regulation of the ryanodine receptor complex.
J Physiol
; 593(15): 3261-6, 2015 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26228554
8.
Single delivery of an adeno-associated viral construct to transfer the CASQ2 gene to knock-in mice affected by catecholaminergic polymorphic ventricular tachycardia is able to cure the disease from birth to advanced age.
Circulation
; 129(25): 2673-81, 2014 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24888331
9.
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Hum Mol Genet
; 22(8): 1483-92, 2013 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23236030
10.
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
Hum Mol Genet
; 21(12): 2759-67, 2012 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422768
11.
DHPR alpha1S subunit controls skeletal muscle mass and morphogenesis.
EMBO J
; 29(3): 643-54, 2010 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-20033060
12.
Role of triadin in the organization of reticulum membrane at the muscle triad.
J Cell Sci
; 125(Pt 14): 3443-53, 2012 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22505613
13.
Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.
Brain
; 135(Pt 4): 1115-27, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22418739
14.
Gene therapies for RyR1-related myopathies.
Curr Opin Pharmacol
; 68: 102330, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36529094
15.
Huntingtin regulates calcium fluxes in skeletal muscle.
J Gen Physiol
; 155(1)2023 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36409218
16.
Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytes.
Stem Cell Reports
; 18(5): 1075-1089, 2023 05 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37163978
17.
Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation.
Elife
; 122023 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37083699
18.
Therapies for RYR1-Related Myopathies: Where We Stand and the Perspectives.
Curr Pharm Des
; 28(1): 15-25, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34514983
19.
Quantification of the calcium signaling deficit in muscles devoid of triadin.
PLoS One
; 17(2): e0264146, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35213584
20.
Development of Knock-Out Muscle Cell Lines using Lentivirus-Mediated CRISPR/Cas9 Gene Editing.
J Vis Exp
; (184)2022 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35781470