Detalhe da pesquisa
1.
WNK kinases sense molecular crowding and rescue cell volume via phase separation.
Cell
; 185(24): 4488-4506.e20, 2022 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318922
2.
Drosha-dependent microRNAs modulate FUS-mediated neurodegeneration in vivo.
Nucleic Acids Res
; 51(20): 11258-11276, 2023 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37791873
3.
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.
Acta Neuropathol
; 146(3): 477-498, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369805
4.
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
Am J Med Genet A
; 188(10): 2932-2940, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861185
5.
DDX17 is involved in DNA damage repair and modifies FUS toxicity in an RGG-domain dependent manner.
Acta Neuropathol
; 142(3): 515-536, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34061233
6.
Traumatic injury induces stress granule formation and enhances motor dysfunctions in ALS/FTD models.
Hum Mol Genet
; 27(8): 1366-1381, 2018 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29432563
7.
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Acta Neuropathol
; 140(6): 971-975, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33015733
8.
Axon guidance genes modulate neurotoxicity of ALS-associated UBQLN2.
Elife
; 122023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37039476
9.
Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import.
Sci Adv
; 9(33): eadi5548, 2023 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37585529
10.
CLIP-Seq analysis enables the design of protective ribosomal RNA bait oligonucleotides against C9ORF72 ALS/FTD poly-GR pathophysiology.
Sci Adv
; 9(45): eadf7997, 2023 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37948524
11.
Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function.
Sci Adv
; 9(1): eade1694, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36608116
12.
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice.
Nat Commun
; 14(1): 603, 2023 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36746939
13.
NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility.
Nat Commun
; 13(1): 3380, 2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35697676
14.
Huntingtin-mediated axonal transport requires arginine methylation by PRMT6.
Cell Rep
; 35(2): 108980, 2021 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33852844
15.
Traumatic injury compromises nucleocytoplasmic transport and leads to TDP-43 pathology.
Elife
; 102021 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34060470
16.
Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway.
Nat Neurosci
; 24(8): 1077-1088, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059832
17.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Nat Commun
; 12(1): 2558, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963192
18.
RNA-recognition motif in Matrin-3 mediates neurodegeneration through interaction with hnRNPM.
Acta Neuropathol Commun
; 8(1): 138, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32811564
19.
RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3.
Acta Neuropathol Commun
; 8(1): 177, 2020 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33129345
20.
The Non-amyloidal Component Region of α-Synuclein Is Important for α-Synuclein Transport Within Axons.
Front Cell Neurosci
; 13: 540, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32038170