Detalhe da pesquisa
1.
Spatiotemporal Proteomic Analysis of Stress Granule Disassembly Using APEX Reveals Regulation by SUMOylation and Links to ALS Pathogenesis.
Mol Cell
; 80(5): 876-891.e6, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33217318
2.
SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.
Hum Mol Genet
; 31(16): 2693-2710, 2022 08 23.
Artigo
Inglês
| MEDLINE | ID: mdl-35313342
3.
Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis.
J Pathol
; 251(3): 262-271, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32391572
4.
The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy.
EMBO J
; 35(15): 1656-76, 2016 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27334615
5.
Astrocyte adenosine deaminase loss increases motor neuron toxicity in amyotrophic lateral sclerosis.
Brain
; 142(3): 586-605, 2019 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30698736
6.
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.
Hum Mol Genet
; 26(6): 1133-1145, 2017 03 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28158451
7.
Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.
Neuropathology
; 36(2): 125-34, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26303227
8.
A neuronal DNA damage response is detected at the earliest stages of Alzheimer's neuropathology and correlates with cognitive impairment in the Medical Research Council's Cognitive Function and Ageing Study ageing brain cohort.
Neuropathol Appl Neurobiol
; 41(4): 483-96, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25443110
9.
Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.
Acta Neuropathol
; 130(1): 63-75, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25943887
10.
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions.
Brain
; 137(Pt 7): 2040-51, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24866055
11.
Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.
Neuropathol Appl Neurobiol
; 40(6): 670-85, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24750229
12.
Viral delivery of antioxidant genes as a therapeutic strategy in experimental models of amyotrophic lateral sclerosis.
Mol Ther
; 21(8): 1486-96, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23732987
13.
Relationships of brain cholesterol and cholesterol biosynthetic enzymes to Alzheimer's pathology and dementia in the CFAS population-derived neuropathology cohort.
Neurosci Res
; 2024 Jan 24.
Artigo
Inglês
| MEDLINE | ID: mdl-38278219
14.
Co-aggregation with Apolipoprotein E modulates the function of Amyloid-ß in Alzheimer's disease.
Nat Commun
; 15(1): 4695, 2024 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38824138
15.
Prospects for gene replacement therapies in amyotrophic lateral sclerosis.
Nat Rev Neurol
; 19(1): 39-52, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36481799
16.
A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins.
Sci Transl Med
; 15(685): eabo3823, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36857431
17.
PTEN depletion rescues axonal growth defect and improves survival in SMN-deficient motor neurons.
Hum Mol Genet
; 19(16): 3159-68, 2010 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-20525971
18.
Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis.
Brain
; 134(Pt 9): 2627-41, 2011 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-21908873
19.
Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation.
Front Cell Neurosci
; 16: 1061559, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36619668
20.
Distinct roles for tetraspanins CD9, CD63 and CD81 in the formation of multinucleated giant cells.
Immunology
; 127(2): 237-48, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19489128