Detalhe da pesquisa
1.
Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching.
Hum Mol Genet
; 31(9): 1417-1429, 2022 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34761268
2.
Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation.
Am J Hum Genet
; 108(3): 446-457, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600773
3.
Dystrophin-negative slow-twitch soleus muscles are not susceptible to eccentric contraction induced injury over the lifespan of the mdx mouse.
Am J Physiol Cell Physiol
; 321(4): C704-C720, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34432537
4.
The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance.
Am J Hum Genet
; 102(5): 845-857, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706347
5.
Response to Mörseburg et al.
Am J Hum Genet
; 109(5): 973, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35523148
6.
Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease.
Hum Mutat
; 39(12): 1774-1787, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30281865
7.
Branched fibers from old fast-twitch dystrophic muscles are the sites of terminal damage in muscular dystrophy.
Am J Physiol Cell Physiol
; 314(6): C662-C674, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29412689
8.
No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes.
BMC Genomics
; 19(1): 13, 2018 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29298672
9.
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.
Hum Mol Genet
; 25(5): 866-77, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681802
10.
Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution.
PLoS Genet
; 11(2): e1004862, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25590636
11.
How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'.
Biochim Biophys Acta
; 1863(4): 686-93, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26802899
12.
Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network.
Biochim Biophys Acta
; 1852(10 Pt B): 2279-86, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26073432
13.
ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.
BMC Genomics
; 17: 285, 2016 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27075997
14.
Vitamin D Receptor Ablation and Vitamin D Deficiency Result in Reduced Grip Strength, Altered Muscle Fibers, and Increased Myostatin in Mice.
Calcif Tissue Int
; 97(6): 602-10, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26340892
15.
Generation of a human ACTA1-tdTomato reporter iPSC line using CRISPR/Cas9 editing.
Stem Cell Res
; 75: 103313, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38277710
16.
A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice.
PLoS One
; 19(1): e0294847, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271438
17.
Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.
Hum Mol Genet
; 20(15): 2914-27, 2011 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21536590
18.
The antioxidants neopterin/7,8-dihydroneopterin: Novel biomarker and muscle protectant in Duchenne muscular dystrophy.
Exp Physiol
; 103(7): 939-940, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29786157
19.
A Spotlight on T Lymphocytes in Duchenne Muscular Dystrophy-Not Just a Muscle Defect.
Biomedicines
; 10(3)2022 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35327337
20.
Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics.
Skelet Muscle
; 12(1): 14, 2022 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35733150