Detalhe da pesquisa
1.
MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV.
Hum Mol Genet
; 30(10): 908-922, 2021 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33822942
2.
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology.
Metab Brain Dis
; 36(7): 2155-2167, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963976
3.
Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV.
Hum Mol Genet
; 27(15): 2725-2738, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29771310
4.
Robust lysosomal calcium signaling through channel TRPML1 is impaired by lysosomal lipid accumulation.
FASEB J
; 32(2): 782-794, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29030399
5.
N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.
Neurobiol Dis
; 105: 257-270, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28610891
6.
Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV.
Am J Pathol
; 186(1): 199-209, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608452
7.
Brain cell type specific proteomics approach to discover pathological mechanisms in the childhood CNS disorder mucolipidosis type IV.
Front Mol Neurosci
; 16: 1215425, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37609073
8.
Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV.
Cells
; 11(3)2022 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35159355
9.
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.
Neurol Genet
; 8(2): e662, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35425852
10.
Progress in elucidating pathophysiology of mucolipidosis IV.
Neurosci Lett
; 755: 135944, 2021 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33965501
11.
Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways.
Orphanet J Rare Dis
; 16(1): 39, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33478506
12.
Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV.
Dis Model Mech
; 13(7)2020 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32586947
13.
Small Molecules for Early Endosome-Specific Patch Clamping.
Cell Chem Biol
; 24(7): 907-916.e4, 2017 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28732201
14.
Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV.
Dis Model Mech
; 8(12): 1591-601, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26398942
15.
Involvement of autophagy in hypoxic-excitotoxic neuronal death.
Autophagy
; 10(5): 846-60, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24674959
16.
Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV.
Acta Neuropathol Commun
; 2: 133, 2014 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25200117
17.
Neuronal autophagy as a mediator of life and death: contrasting roles in chronic neurodegenerative and acute neural disorders.
Neuroscientist
; 18(3): 224-36, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21525331
18.
Beclin 1-independent autophagy contributes to apoptosis in cortical neurons.
Autophagy
; 7(10): 1115-31, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21646862
19.
Calpain hydrolysis of alpha- and beta2-adaptins decreases clathrin-dependent endocytosis and may promote neurodegeneration.
J Biol Chem
; 284(18): 12447-58, 2009 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19240038