Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Loss of endophilin-B1 exacerbates Alzheimer's disease pathology.
Brain
; 138(Pt 7): 2005-19, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25981964
5.
Bax interacting factor-1 promotes survival and mitochondrial elongation in neurons.
J Neurosci
; 34(7): 2674-83, 2014 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24523556
6.
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
7.
Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity.
Acta Neuropathol Commun
; 11(1): 164, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37845749
8.
MAP4K3 inhibits Sirtuin-1 to repress the LKB1-AMPK pathway to promote amino acid-dependent activation of the mTORC1 complex.
Life Sci Alliance
; 6(8)2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37221017
9.
Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration.
J Neurosci
; 31(45): 16269-78, 2011 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072678
10.
CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.
PLoS Genet
; 4(11): e1000257, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19008940
11.
Altered H3 histone acetylation impairs high-fidelity DNA repair to promote cerebellar degeneration in spinocerebellar ataxia type 7.
Cell Rep
; 37(9): 110062, 2021 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34852229
12.
Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment.
J Neurosci
; 29(48): 15134-44, 2009 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-19955365
13.
Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk.
J Neurosci
; 29(7): 1987-97, 2009 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19228953
14.
Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport.
Nat Neurosci
; 9(10): 1302-11, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16936724
15.
Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly.
Heliyon
; 6(6): e04165, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32577562
16.
Neuronal susceptibility to beta-amyloid toxicity and ischemic injury involves histone deacetylase-2 regulation of endophilin-B1.
Brain Pathol
; 29(2): 164-175, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30028551
17.
Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.
Cell Rep
; 26(5): 1189-1202.e6, 2019 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30699348
18.
Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.
Acta Neuropathol Commun
; 7(1): 27, 2019 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30808398
19.
Author Correction: Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy.
Nat Med
; 30(3): 909-910, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38191617
20.
Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration.
Neuron
; 41(5): 687-99, 2004 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-15003169