Detalhe da pesquisa
1.
Opposing effects of Nrf2 and Nrf2-activating compounds on the NLRP3 inflammasome independent of Nrf2-mediated gene expression.
Eur J Immunol
; 47(5): 806-817, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28247911
2.
The Crosstalk between Nrf2 and Inflammasomes.
Int J Mol Sci
; 19(2)2018 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29438305
3.
Norrbottnian clinical variant of Gaucher disease in Southern Italy.
J Hum Genet
; 62(4): 507-511, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28003644
4.
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Hum Mutat
; 37(1): 16-27, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26462614
5.
MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.
Mol Genet Metab
; 119(4): 329-337, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27802905
6.
The Arabidopsis STRESS RESPONSE SUPPRESSOR DEAD-box RNA helicases are nucleolar- and chromocenter-localized proteins that undergo stress-mediated relocalization and are involved in epigenetic gene silencing.
Plant J
; 79(1): 28-43, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24724701
7.
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
Clin Genet
; 85(3): 267-72, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23711321
8.
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.
Neuropediatrics
; 50(4): 268-270, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31137068
9.
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Hum Mutat
; 32(6): E2189-210, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21394825
10.
PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.
Biochim Biophys Acta
; 1792(6): 548-54, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19376225
11.
Inactivation of the Cytoprotective Major Vault Protein by Caspase-1 and -9 in Epithelial Cells during Apoptosis.
J Invest Dermatol
; 140(7): 1335-1345.e10, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31877317
12.
Generation of Knockout Human Primary Keratinocytes by CRISPR/Cas9.
Methods Mol Biol
; 2109: 125-145, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502220
13.
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
Mol Genet Metab
; 97(4): 309-11, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19454373
14.
The NLRP1 Inflammasome Pathway Is Silenced in Cutaneous Squamous Cell Carcinoma.
J Invest Dermatol
; 139(8): 1788-1797.e6, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30738816
15.
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
Hum Mutat
; 29(11): E220-30, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18693274
16.
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
Hum Mutat
; 29(6): E58-67, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18429048
17.
Genome Editing of Human Primary Keratinocytes by CRISPR/Cas9 Reveals an Essential Role of the NLRP1 Inflammasome in UVB Sensing.
J Invest Dermatol
; 138(12): 2644-2652, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30096351
18.
The p38 Mitogen-Activated Protein Kinase Critically Regulates Human Keratinocyte Inflammasome Activation.
J Invest Dermatol
; 138(6): 1380-1390, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29287762
19.
Nrf2-Mediated Fibroblast Reprogramming Drives Cellular Senescence by Targeting the Matrisome.
Dev Cell
; 46(2): 145-161.e10, 2018 07 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30016619
20.
Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy.
Cell Death Dis
; 9(6): 698, 2018 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899471