Detalhe da pesquisa
1.
Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.
Hum Mol Genet
; 26(12): 2258-2276, 2017 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28398466
2.
Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody.
BMC Cell Biol
; 17(1): 26, 2016 06 27.
Artigo
Inglês
| MEDLINE | ID: mdl-27350129
3.
High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines.
Hum Mol Genet
; 23(6): 1551-62, 2014 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24179176
4.
ApoE isoform-specific regulation of regeneration in the peripheral nervous system.
Hum Mol Genet
; 20(12): 2406-21, 2011 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21478199
5.
The gemin2-binding site on SMN protein: accessibility to antibody.
Biochem Biophys Res Commun
; 438(4): 624-7, 2013 Sep 06.
Artigo
Inglês
| MEDLINE | ID: mdl-23939045
6.
Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex.
J Biol Chem
; 286(44): 38427-38438, 2011 Nov 04.
Artigo
Inglês
| MEDLINE | ID: mdl-21900255
7.
Analysis of exonic regions involved in nuclear localization, splicing activity, and dimerization of Muscleblind-like-1 isoforms.
J Biol Chem
; 286(18): 16435-46, 2011 May 06.
Artigo
Inglês
| MEDLINE | ID: mdl-21454535
8.
Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies.
Biochem Biophys Res Commun
; 424(2): 354-7, 2012 Jul 27.
Artigo
Inglês
| MEDLINE | ID: mdl-22771323
9.
MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice.
PLoS Genet
; 5(5): e1000482, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19436705
10.
Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells.
Hum Mutat
; 32(4): 389-96, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21309037
11.
The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress.
J Cell Biochem
; 112(6): 1612-21, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21344488
12.
Nesprin-2 epsilon: a novel nesprin isoform expressed in human ovary and Ntera-2 cells.
Biochem Biophys Res Commun
; 412(2): 291-5, 2011 Aug 26.
Artigo
Inglês
| MEDLINE | ID: mdl-21820406
13.
Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse.
Nat Med
; 9(8): 1009-14, 2003 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-12847521
14.
Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development.
Dev Dyn
; 239(3): 998-1009, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20108321
15.
Valproate and bone loss: iTRAQ proteomics show that valproate reduces collagens and osteonectin in SMA cells.
J Proteome Res
; 9(8): 4228-33, 2010 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-20568814
16.
The SMN interactome includes Myb-binding protein 1a.
J Proteome Res
; 9(1): 556-63, 2010 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19928837
17.
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.
Hum Mol Genet
; 17(8): 1063-75, 2008 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18178576
18.
Nesprin isoforms: are they inside or outside the nucleus?
Biochem Soc Trans
; 38(Pt 1): 278-80, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-20074074
19.
Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle.
Am J Pathol
; 174(1): 216-27, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19095965
20.
Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy.
Neuromuscul Disord
; 30(6): 443-456, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32522500