Detalhe da pesquisa
1.
C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation.
EMBO J
; 41(1): e105026, 2022 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34791698
2.
A monocarboxylate transporter rescues frontotemporal dementia and Alzheimer's disease models.
PLoS Genet
; 19(9): e1010893, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37733679
3.
A novel synaptopathy-defective synaptic vesicle protein trafficking in the mutant CHMP2B mouse model of frontotemporal dementia.
J Neurochem
; 160(3): 412-425, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34855215
4.
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
EMBO J
; 37(11)2018 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29764981
5.
Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 93(7): 761-771, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35379698
6.
Progranulin and TMEM106B: when two become wan.
EMBO Rep
; 21(10): e51668, 2020 10 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32985120
7.
Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.
Acta Neurol Scand
; 145(5): 529-540, 2022 May.
Artigo
Inglês
| MEDLINE | ID: mdl-34997757
8.
Sizing, stabilising, and cloning repeat-expansions for gene targeting constructs.
Methods
; 191: 15-22, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32721467
9.
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.
Nucleic Acids Res
; 48(12): 6889-6905, 2020 07 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32479602
10.
Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: lessons learned and the path forward.
Brain
; 2024 May 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38805751
11.
Ageing as a risk factor for ALS/FTD.
Hum Mol Genet
; 26(R2): R105-R113, 2017 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28977441
12.
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.
Hum Mol Genet
; 26(5): 873-887, 2017 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28093491
13.
C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A.
Acta Neuropathol
; 137(3): 487-500, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30604225
14.
Frontotemporal dementia causative CHMP2B impairs neuronal endolysosomal traffic-rescue by TMEM106B knockdown.
Brain
; 141(12): 3428-3442, 2018 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30496365
15.
Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD.
Acta Neuropathol
; 135(3): 445-457, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29380049
16.
A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.
Acta Neuropathol
; 135(3): 427-443, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29302778
17.
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.
Brain
; 140(11): 2797-2805, 2017 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29053787
18.
Regulation of postsynaptic function by the dementia-related ESCRT-III subunit CHMP2B.
J Neurosci
; 35(7): 3155-73, 2015 Feb 18.
Artigo
Inglês
| MEDLINE | ID: mdl-25698751
19.
Conformation determines the seeding potencies of native and recombinant Tau aggregates.
J Biol Chem
; 290(2): 1049-65, 2015 Jan 09.
Artigo
Inglês
| MEDLINE | ID: mdl-25406315
20.
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
Am J Hum Genet
; 92(3): 345-53, 2013 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-23434116