Detalhe da pesquisa
1.
Molecular and cellular basis of genetically inherited skeletal muscle disorders.
Nat Rev Mol Cell Biol;
22(11): 713-732, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34257452
2.
Successes and challenges in clinical gene therapy.
Gene Ther;
30(10-11): 738-746, 2023 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37935854
3.
Nanoparticles systemically biodistribute to regenerating skeletal muscle in DMD.
J Nanobiotechnology;
21(1): 303, 2023 Aug 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37641124
4.
Cell-free DNA ultra-low-pass whole genome sequencing to distinguish malignant peripheral nerve sheath tumor (MPNST) from its benign precursor lesion: A cross-sectional study.
PLoS Med;
18(8): e1003734, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34464388
5.
Spp1 (osteopontin) promotes TGFß processing in fibroblasts of dystrophin-deficient muscles through matrix metalloproteinases.
Hum Mol Genet;
28(20): 3431-3442, 2019 10 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31411676
6.
Myostatin inhibition promotes fast fibre hypertrophy but causes loss of AMP-activated protein kinase signalling and poor exercise tolerance in a model of limb-girdle muscular dystrophy R1/2A.
J Physiol;
598(18): 3927-3939, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33460149
7.
The molecular tweezer CLR01 inhibits aberrant superoxide dismutase 1 (SOD1) self-assembly in vitro and in the G93A-SOD1 mouse model of ALS.
J Biol Chem;
294(10): 3501-3513, 2019 03 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30602569
8.
CRISPR for Neuromuscular Disorders: Gene Editing and Beyond.
Physiology (Bethesda);
34(5): 341-353, 2019 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31389773
9.
Calpain 3 and CaMKIIß signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy.
Hum Mol Genet;
27(9): 1642-1653, 2018 05 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29528394
10.
Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury.
PLoS Genet;
13(10): e1007070, 2017 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29065150
11.
Outside in: The matrix as a modifier of muscular dystrophy.
Biochim Biophys Acta Mol Cell Res;
1864(3): 572-579, 2017 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28011285
12.
Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy).
Hum Mol Genet;
25(11): 2194-2207, 2016 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27005420
13.
High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD.
Hum Mol Genet;
25(24): 5395-5406, 2016 12 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27798107
14.
The E3 ubiquitin ligase TRIM32 regulates myoblast proliferation by controlling turnover of NDRG2.
Hum Mol Genet;
24(10): 2873-83, 2015 May 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25701873
15.
Autolytic activation of calpain 3 proteinase is facilitated by calmodulin protein.
J Biol Chem;
290(2): 996-1004, 2015 Jan 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25389288
16.
Safer sex? The effect of AIDS risk on birth rates.
J Health Econ;
95: 102867, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38461677
17.
The super-healing MRL strain promotes muscle growth in muscular dystrophy through a regenerative extracellular matrix.
JCI Insight;
9(3)2024 Jan 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38175727
18.
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
bioRxiv;
2024 May 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38765987
19.
The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.
Hum Mol Genet;
20(20): 3925-32, 2011 Oct 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21775502
20.
Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3.
Hum Mol Genet;
20(17): 3331-45, 2011 Sep 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21624972