Detalhe da pesquisa
1.
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
Mol Genet Metab
; 141(2): 108116, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38161139
2.
Rigor and reproducibility in human brain organoid research: Where we are and where we need to go.
Stem Cell Reports
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38759644
3.
Reproducible Differentiation of Human Pluripotent Stem Cells into Two-Dimensional Cortical Neuron Cultures with Checkpoints for Success.
Curr Protoc
; 3(12): e948, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38148714
4.
Generation of a human Tropomyosin 1 knockout iPSC line.
Stem Cell Res
; 71: 103161, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422949
5.
Generation of a human Tropomyosin 1 knockout iPSC line.
bioRxiv
; 2023 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37205377
6.
Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching.
Nat Commun
; 14(1): 2628, 2023 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37149717
7.
Cross-site reproducibility of human cortical organoids reveals consistent cell type composition and architecture.
bioRxiv
; 2023 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37546772
8.
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
EMBO Mol Med
; 15(3): e14837, 2023 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36789546
9.
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Nat Commun
; 14(1): 4109, 2023 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37433783
10.
Induction of intracellular tau aggregation is promoted by α-synuclein seeds and provides novel insights into the hyperphosphorylation of tau.
J Neurosci
; 31(21): 7604-18, 2011 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-21613474
11.
E46K human alpha-synuclein transgenic mice develop Lewy-like and tau pathology associated with age-dependent, detrimental motor impairment.
J Biol Chem
; 286(40): 35104-18, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21846727
12.
Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.
J Neurosci Res
; 90(12): 2306-16, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22847264
13.
Characterization of kinases involved in the phosphorylation of aggregated α-synuclein.
J Neurosci Res
; 89(2): 231-47, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21162130
14.
Molecular mechanisms of alpha-synuclein neurodegeneration.
Biochim Biophys Acta
; 1792(7): 616-24, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18955133
15.
A novel, high-efficiency cellular model of fibrillar alpha-synuclein inclusions and the examination of mutations that inhibit amyloid formation.
J Neurochem
; 113(2): 374-88, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20132485
16.
Residue Glu83 plays a major role in negatively regulating alpha-synuclein amyloid formation.
Biochem Biophys Res Commun
; 391(3): 1415-20, 2010 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20026050
17.
Characterization of hydrophobic residue requirements for alpha-synuclein fibrillization.
Biochemistry
; 48(40): 9427-36, 2009 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-19722699
18.
Leucine-rich repeat kinase 2 expression leads to aggresome formation that is not associated with alpha-synuclein inclusions.
J Neuropathol Exp Neurol
; 68(7): 785-96, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19535993
19.
Clinical and pathological characteristics of patients with leucine-rich repeat kinase-2 mutations.
Mov Disord
; 24(1): 32-9, 2009 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19006185
20.
Specificity and regulation of casein kinase-mediated phosphorylation of alpha-synuclein.
J Neuropathol Exp Neurol
; 67(5): 402-16, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18451726