Detalhe da pesquisa
1.
Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking.
J Biol Chem
; 294(24): 9592-9604, 2019 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31040178
2.
Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis.
Int J Mol Sci
; 19(2)2018 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29470438
3.
Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.
J Biol Chem
; 290(23): 14361-80, 2015 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25878248
4.
Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
Biochim Biophys Acta
; 1852(10 Pt B): 2237-41, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026925
5.
Future perspectives: Moving towards NCL treatments.
Biochim Biophys Acta
; 1852(10 Pt B): 2336-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25857620
6.
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
Hum Mol Genet
; 23(8): 2005-22, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24271013
7.
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
Am J Hum Genet
; 91(1): 202-8, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22748208
8.
Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.
Curr Neurol Neurosci Rep
; 13(8): 366, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23775425
9.
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
BMC Med Genet
; 13: 50, 2012 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-22727047
10.
Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease).
Front Cell Dev Biol
; 10: 812728, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35252181
11.
Special issue: Molecular basis of NCL.
Biochim Biophys Acta
; 1852(10 Pt B): 2235-6, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26122823
12.
Lithium rescues the impaired autophagy process in CbCln3(Δex7/8/Δex7/8) cerebellar cells and reduces neuronal vulnerability to cell death via IMPase inhibition.
J Neurochem
; 116(4): 659-68, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21175620
13.
CLN3, at the crossroads of endocytic trafficking.
Neurosci Lett
; 762: 136117, 2021 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34274435
14.
Macroautophagy is defective in mucolipin-1-deficient mouse neurons.
Neurobiol Dis
; 40(2): 370-7, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20600908
15.
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.
Biochim Biophys Acta Mol Basis Dis
; 1866(9): 165571, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31678159
16.
Differential accumulation of storage bodies with aging defines discrete subsets of microglia in the healthy brain.
Elife
; 92020 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32579115
17.
Lysosomal activity associated with developmental axon pruning.
J Neurosci
; 28(36): 8993-9001, 2008 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-18768693
18.
An Autophagy Modifier Screen Identifies Small Molecules Capable of Reducing Autophagosome Accumulation in a Model of CLN3-Mediated Neurodegeneration.
Cells
; 8(12)2019 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31783699
19.
Developmental impairments of select neurotransmitter systems in brains of Cln3(Deltaex7/8) knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis.
J Neurosci Res
; 86(8): 1857-70, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18265413
20.
Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity.
Mol Ther Nucleic Acids
; 11: 416-428, 2018 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29858077