Detalhe da pesquisa
1.
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.
Cell
; 172(5): 897-909.e21, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474918
2.
Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing.
Neurobiol Dis
; 190: 106367, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38042508
3.
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
Am J Hum Genet
; 108(11): 2145-2158, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34672987
4.
Tracking human neurologic disease status in mouse brain/plasma using reporter-tagged, EV-associated biomarkers.
Mol Ther
; 31(7): 2206-2219, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198883
5.
TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism.
Mov Disord
; 36(1): 206-215, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32975318
6.
Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism.
J Neural Transm (Vienna)
; 128(4): 575-587, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33439365
7.
Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex.
Neurobiol Dis
; 144: 105032, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32739252
8.
Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.
Proc Natl Acad Sci U S A
; 114(51): E11020-E11028, 2017 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29229810
9.
X-Linked Dystonia-Parkinsonism: recent advances.
Curr Opin Neurol
; 32(4): 604-609, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31116117
10.
X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B.
Neurobiol Dis
; 100: 108-118, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017799
11.
Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.
J Biol Chem
; 290(37): 22543-57, 2015 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26231208
12.
Update on treatments for dystonia.
Curr Neurol Neurosci Rep
; 14(6): 454, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24744022
13.
SAK3 confers neuroprotection in the neurodegeneration model of X-linked Dystonia-Parkinsonism.
Res Sq
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746402
14.
Establishing a natural history of X-linked dystonia parkinsonism.
Brain Commun
; 5(3): fcad106, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37265597
15.
DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction.
Biomolecules
; 12(5)2022 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35625640
16.
Variation in TAF1 expression in female carrier induced pluripotent stem cells and human brain ontogeny has implications for adult neostriatum vulnerability in X-linked Dystonia Parkinsonism.
eNeuro
; 2022 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868859
17.
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
Acta Neuropathol Commun
; 10(1): 49, 2022 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395816
18.
Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.
J Neurochem
; 118(6): 1087-100, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21752024
19.
Molecular pathways in dystonia.
Neurobiol Dis
; 42(2): 136-47, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21134457
20.
Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism.
Brain Commun
; 3(4): fcab253, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34746789