Detalhe da pesquisa
1.
Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency.
Hum Mol Genet
; 23(6): 1467-78, 2014 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24163244
2.
Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor.
Proc Natl Acad Sci U S A
; 109(52): 21510-5, 2012 Dec 26.
Artigo
Inglês
| MEDLINE | ID: mdl-23236149
3.
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS.
Acta Neuropathol
; 126(6): 829-44, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24129584
4.
Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones.
J Neurosci
; 30(16): 5489-97, 2010 Apr 21.
Artigo
Inglês
| MEDLINE | ID: mdl-20410102
5.
Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy.
FASEB J
; 21(10): 2520-7, 2007 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-17403939
6.
Deletion of the ubiquitin ligase CHIP leads to the accumulation, but not the aggregation, of both endogenous phospho- and caspase-3-cleaved tau species.
J Neurosci
; 26(26): 6985-96, 2006 Jun 28.
Artigo
Inglês
| MEDLINE | ID: mdl-16807328
7.
HSP induction mediates selective clearance of tau phosphorylated at proline-directed Ser/Thr sites but not KXGS (MARK) sites.
FASEB J
; 20(6): 753-5, 2006 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-16464956
8.
Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy.
FASEB J
; 19(11): 1549-51, 2005 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-15987783
9.
Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.
Nat Neurosci
; 18(8): 1175-82, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26192745
10.
Progranulin regulates neuronal outgrowth independent of sortilin.
Mol Neurodegener
; 7: 33, 2012 Jul 10.
Artigo
Inglês
| MEDLINE | ID: mdl-22781549
11.
Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD).
Neurobiol Dis
; 23(2): 273-80, 2006 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-16759875
12.
Pharmacologic reductions of total tau levels; implications for the role of microtubule dynamics in regulating tau expression.
Mol Neurodegener
; 1: 6, 2006 Jul 26.
Artigo
Inglês
| MEDLINE | ID: mdl-16930453