Detalhe da pesquisa
1.
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.
Hum Mol Genet
; 29(13): 2200-2217, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504093
2.
An ALS-linked mutation in TDP-43 disrupts normal protein interactions in the motor neuron response to oxidative stress.
Neurobiol Dis
; 144: 105050, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32800996
3.
Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction.
Neurobiol Dis
; 121: 148-162, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290270
4.
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.
Brain
; 140(4): 887-897, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334866
5.
C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Stem Cells
; 34(8): 2063-78, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27097283
6.
Mutant GGGGCC RNA prevents YY1 from binding to Fuzzy promoter which stimulates Wnt/ß-catenin pathway in C9ALS/FTD.
Nat Commun
; 14(1): 8420, 2023 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38110419
7.
C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9.
Nat Commun
; 14(1): 5898, 2023 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37736756
8.
Human stem cell models of neurodegeneration: From basic science of amyotrophic lateral sclerosis to clinical translation.
Cell Stem Cell
; 29(1): 11-35, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34995492
9.
Human iPSC co-culture model to investigate the interaction between microglia and motor neurons.
Sci Rep
; 12(1): 12606, 2022 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35871163
10.
Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteins.
Sci Transl Med
; 14(662): eabq3215, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36103513
11.
The Role of Mitochondrial Dysfunction and ER Stress in TDP-43 and C9ORF72 ALS.
Front Cell Neurosci
; 15: 653688, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33867942
12.
Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins.
Nat Commun
; 12(1): 6914, 2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34824257
13.
Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD.
Stem Cell Reports
; 14(5): 892-908, 2020 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32330447