Detalhe da pesquisa
1.
The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.
J Biol Chem
; 299(8): 104962, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37356721
2.
Building neuromuscular junctions in vitro.
Development
; 147(22)2020 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199350
3.
MBNL-dependent impaired development within the neuromuscular system in myotonic dystrophy type 1.
Neuropathol Appl Neurobiol
; 49(1): e12876, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36575942
4.
Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
Int J Mol Sci
; 24(22)2023 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003406
5.
Correlative Imaging of Motoneuronal Cell Elasticity by Pump and Probe Spectroscopy.
Biophys J
; 120(3): 402-408, 2021 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33421413
6.
Wnt proteins contribute to neuromuscular junction formation through distinct signaling pathways.
Development
; 144(9): 1712-1724, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28348167
7.
Moving forward with the neuromuscular junction.
J Neurochem
; 142 Suppl 2: 59-63, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28449366
8.
Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency.
FASEB J
; 30(6): 2382-99, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26993635
9.
HuR Mediates Changes in the Stability of AChR ß-Subunit mRNAs after Skeletal Muscle Denervation.
J Neurosci
; 35(31): 10949-62, 2015 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26245959
10.
MuSK frizzled-like domain is critical for mammalian neuromuscular junction formation and maintenance.
J Neurosci
; 35(12): 4926-41, 2015 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25810523
11.
Genesis of muscle fiber-type diversity during mouse embryogenesis relies on Six1 and Six4 gene expression.
Dev Biol
; 359(2): 303-20, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21884692
12.
ColQ controls postsynaptic differentiation at the neuromuscular junction.
J Neurosci
; 30(1): 13-23, 2010 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-20053883
13.
Collagens at the vertebrate neuromuscular junction, from structure to pathologies.
Neurosci Lett
; 735: 135155, 2020 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32534096
14.
Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ.
Stem Cell Res
; 49: 102106, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33370874
15.
AChR ß-Subunit mRNAs Are Stabilized by HuR in a Mouse Model of Congenital Myasthenic Syndrome With Acetylcholinesterase Deficiency.
Front Mol Neurosci
; 13: 568171, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33362463
16.
MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction.
J Cell Biol
; 165(4): 505-15, 2004 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-15159418
17.
Identification of cis-acting elements involved in acetylcholinesterase RNA alternative splicing.
Mol Cell Neurosci
; 38(1): 1-14, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18313329
18.
Congenital myasthenic syndromes with acetylcholinesterase deficiency, the pathophysiological mechanisms.
Ann N Y Acad Sci
; 1413(1): 104-110, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29405353
19.
Developmental consequences of the ColQ/MuSK interactions.
Chem Biol Interact
; 203(1): 287-91, 2013 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23089045
20.
Wnt4 participates in the formation of vertebrate neuromuscular junction.
PLoS One
; 7(1): e29976, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22253844