Detalhe da pesquisa
1.
Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.
Brain
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38763511
2.
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence.
J Med Genet
; 59(12): 1227-1233, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36041817
3.
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Hum Mutat
; 41(3): 632-640, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31696996
4.
A novel mutation in the GFAP gene expands the phenotype of Alexander disease.
J Med Genet
; 56(12): 846-849, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31004048
5.
Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy.
Acta Neuropathol
; 133(2): 283-301, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28004277
6.
Methylene blue upregulates Nrf2/ARE genes and prevents tau-related neurotoxicity.
Hum Mol Genet
; 23(14): 3716-32, 2014 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24556215
7.
Kinetic DTI of the cervical spine: diffusivity changes in healthy subjects.
Neuroradiology
; 58(9): 929-35, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27278377
8.
Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.
Acta Neuropathol
; 129(3): 399-415, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25549970
9.
PGC-1α overexpression exacerbates ß-amyloid and tau deposition in a transgenic mouse model of Alzheimer's disease.
FASEB J
; 28(4): 1745-55, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24398293
10.
Oxidative stress regulates the ubiquitin-proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy.
Brain
; 136(Pt 3): 891-904, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23436506
11.
Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: a paradigm for multifactorial neurodegenerative diseases?
Biochim Biophys Acta
; 1822(9): 1475-88, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22353463
12.
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
J Clin Invest
; 133(10)2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36951944
13.
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
J Clin Invest
; 133(14)2023 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37463447
14.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Genome Med
; 15(1): 68, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679823
15.
Prospective Comparison Between Shotgun Metagenomics and Sanger Sequencing of the 16S rRNA Gene for the Etiological Diagnosis of Infections.
Front Microbiol
; 13: 761873, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35464955
16.
Serine 59 phosphorylation of {alpha}B-crystallin down-regulates its anti-apoptotic function by binding and sequestering Bcl-2 in breast cancer cells.
J Biol Chem
; 285(48): 37324-32, 2010 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20841355
17.
Rapid detection of Pseudomonas aeruginosa from positive blood cultures by quantitative PCR.
Ann Clin Microbiol Antimicrob
; 9: 21, 2010 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-20684778
18.
High-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy.
Brain Pathol
; 30(5): 945-963, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32511826
19.
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
J Clin Invest
; 129(3): 1240-1256, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30620337
20.
Aberrant regulation of the GSK-3ß/NRF2 axis unveils a novel therapy for adrenoleukodystrophy.
EMBO Mol Med
; 10(8)2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997171