Detalhe da pesquisa
1.
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability.
Cell
; 186(22): 4898-4919.e25, 2023 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827155
2.
Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4.
Nature
; 606(7916): 945-952, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35732742
3.
Author Correction: Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4.
Nature
; 608(7924): E34, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35945277
4.
Autophagy gene haploinsufficiency drives chromosome instability, increases migration, and promotes early ovarian tumors.
PLoS Genet
; 16(1): e1008558, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31923184
5.
4E-BP1 Protects Neurons from Misfolded Protein Stress and Parkinson's Disease Toxicity by Inducing the Mitochondrial Unfolded Protein Response.
J Neurosci
; 40(45): 8734-8745, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33046555
6.
TFEB dysregulation as a driver of autophagy dysfunction in neurodegenerative disease: Molecular mechanisms, cellular processes, and emerging therapeutic opportunities.
Neurobiol Dis
; 122: 83-93, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29852219
7.
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.
Acta Neuropathol
; 136(3): 425-443, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29725819
8.
Therapy development in Huntington disease: From current strategies to emerging opportunities.
Am J Med Genet A
; 176(4): 842-861, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29218782
9.
X-Linked Spinal and Bulbar Muscular Atrophy: From Clinical Genetic Features and Molecular Pathology to Mechanisms Underlying Disease Toxicity.
Adv Exp Med Biol
; 1049: 103-133, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29427100
10.
Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction.
Hum Mol Genet
; 24(14): 3908-17, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25859008
11.
Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age.
Hum Mol Genet
; 23(6): 1606-18, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24191263
12.
Repeat expansion disease: progress and puzzles in disease pathogenesis.
Nat Rev Genet
; 11(4): 247-58, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20177426
13.
Autophagy in polyglutamine disease: Imposing order on disorder or contributing to the chaos?
Mol Cell Neurosci
; 66(Pt A): 53-61, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25771431
14.
Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7.
Hum Mol Genet
; 22(5): 890-903, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23197655
15.
Endoplasmic reticulum stress in spinal and bulbar muscular atrophy: a potential target for therapy.
Brain
; 137(Pt 7): 1894-906, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24898351
16.
Nonallele specific silencing of ataxin-7 improves disease phenotypes in a mouse model of SCA7.
Mol Ther
; 22(9): 1635-42, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24930601
17.
Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network.
Hum Mol Genet
; 21(5): 1099-110, 2012 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22100762
18.
Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy.
Brain
; 136(Pt 3): 926-43, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23393146
19.
TDP-43 dysregulation of polyadenylation site selection is a defining feature of RNA misprocessing in ALS/FTD and related disorders.
bioRxiv
; 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38328178
20.
Absence of disturbed axonal transport in spinal and bulbar muscular atrophy.
Hum Mol Genet
; 20(9): 1776-86, 2011 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21317158