Detalhe da pesquisa
1.
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Am J Hum Genet
; 100(2): 297-315, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132687
2.
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
Am J Hum Genet
; 99(3): 647-665, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27499521
3.
CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis.
Brain
; 141(8): 2343-2361, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961886
4.
SMN regulates axonal local translation via miR-183/mTOR pathway.
Hum Mol Genet
; 23(23): 6318-31, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25055867
5.
PLS3 mutations in X-linked osteoporosis with fractures.
N Engl J Med
; 369(16): 1529-36, 2013 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24088043
6.
Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.
Hum Mol Genet
; 22(7): 1328-47, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23263861
7.
The SATB1-MIR22-GBA axis mediates glucocerebroside accumulation inducing a cellular senescence-like phenotype in dopaminergic neurons.
Aging Cell
; 23(4): e14077, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38303548
8.
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.
Hum Mol Genet
; 20(22): 4334-44, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21840928
9.
The SATB1-MIR22-GBA axis mediates glucocerebroside accumulation inducing a cellular senescence-like phenotype in dopaminergic neurons.
bioRxiv
; 2023 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503189
10.
TNF-NFkB-p53 axis restricts in vivo survival of hPSC-derived dopamine neuron.
bioRxiv
; 2023 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034664
11.
Reactive Dopamine Leads to Triple Trouble in Nigral Neurons.
Biochemistry
; 56(49): 6409-6410, 2017 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29188990
12.
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.
Hum Mol Genet
; 19(8): 1492-506, 2010 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20097677
13.
Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing.
Hum Mol Genet
; 19(11): 2154-67, 2010 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20190275
14.
Age-Related Midbrain Inflammation and Senescence in Parkinson's Disease.
Front Aging Neurosci
; 14: 917797, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35721008
15.
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition.
Hum Mol Genet
; 18(2): 304-17, 2009 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18971205
16.
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate.
Hum Mol Genet
; 18(19): 3645-58, 2009 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19584083
17.
Cellular Senescence in Health, Disease and Aging: Blessing or Curse?
Life (Basel)
; 11(6)2021 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34207678
18.
Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy.
Neurobiol Dis
; 38(1): 125-35, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20085811
19.
Editorial: Reviews in cellular neurophysiology 2022: neurophysiological mechanisms in the aging brain.
Front Cell Neurosci
; 18: 1385783, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38486711
20.
Loss of SATB1 Induces p21-Dependent Cellular Senescence in Post-mitotic Dopaminergic Neurons.
Cell Stem Cell
; 25(4): 514-530.e8, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31543366