Detalhe da pesquisa
1.
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
Hum Mol Genet
; 32(9): 1511-1523, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36579833
2.
The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning.
PLoS Genet
; 15(4): e1008108, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31017896
3.
Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth.
Hum Mol Genet
; 27(13): 2276-2289, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659837
4.
TDP-43 transports ribosomal protein mRNA to regulate axonal local translation in neuronal axons.
Acta Neuropathol
; 140(5): 695-713, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803350
5.
Genetic inhibition of CRMP2 phosphorylation delays Wallerian degeneration after optic nerve injury.
Biochem Biophys Res Commun
; 514(4): 1037-1039, 2019 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31097218
6.
Role of non-macrophage cell-derived HMGB1 in oxaliplatin-induced peripheral neuropathy and its prevention by the thrombin/thrombomodulin system in rodents: negative impact of anticoagulants.
J Neuroinflammation
; 16(1): 199, 2019 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31666085
7.
Altered immunoreactivity of ErbB4, a causative gene product for ALS19, in the spinal cord of patients with sporadic ALS.
Neuropathology
; 39(4): 268-278, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31124187
8.
Regulatory Mechanism of Peripheral Nerve Myelination by Glutamate-Induced Signaling.
Adv Exp Med Biol
; 1190: 23-31, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31760635
9.
Defined Engineered Human Myocardium With Advanced Maturation for Applications in Heart Failure Modeling and Repair.
Circulation
; 135(19): 1832-1847, 2017 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28167635
10.
A cysteine residue affects the conformational state and neuronal toxicity of mutant SOD1 in mice: relevance to the pathogenesis of ALS.
Hum Mol Genet
; 24(12): 3427-39, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25762155
11.
Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Nat Genet
; 39(1): 70-4, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17143285
12.
Neuregulin-1/glial growth factor stimulates Schwann cell migration by inducing α5 ß1 integrin-ErbB2-focal adhesion kinase complex formation.
Genes Cells
; 19(1): 66-77, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24256316
13.
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
Proc Natl Acad Sci U S A
; 109(11): 4257-62, 2012 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22371576
14.
Transient sleep apnea results in long-lasting increase in ß-amyloid generation and tau hyperphosphorylation.
Neurosci Res
; 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508957
15.
Large-scale animal model study uncovers altered brain pH and lactate levels as a transdiagnostic endophenotype of neuropsychiatric disorders involving cognitive impairment.
Elife
; 122024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529532
16.
Novel insights into the mechanism of reactive oxygen species-mediated neurodegeneration.
Neural Regen Res
; 18(4): 746-749, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36204830
17.
In vitro myelination using explant culture of dorsal root ganglia: An efficient tool for analyzing peripheral nerve differentiation and disease modeling.
PLoS One
; 18(5): e0285897, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37224113
18.
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.
J Cell Sci
; 123(Pt 22): 3893-900, 2010 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20980393
19.
Wallerian degeneration slow mouse neurons are protected against cell death caused by mechanisms involving mitochondrial electron transport dysfunction.
J Neurosci Res
; 90(3): 664-71, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22183770
20.
A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells.
Blood
; 116(18): 3611-21, 2010 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-20651068