Detalhe da pesquisa
1.
Neuronal enhancers are hotspots for DNA single-strand break repair.
Nature
; 593(7859): 440-444, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33767446
2.
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Brain
; 147(5): 1751-1767, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128568
3.
Osteosarcoma cell death induced by innovative scaffolds doped with chemotherapeutics.
J Cell Physiol
; 239(5): e31256, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38591855
4.
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
Cell Mol Life Sci
; 80(2): 53, 2023 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36707427
5.
Clathrin adaptor AP-1-mediated Golgi export of amyloid precursor protein is crucial for the production of neurotoxic amyloid fragments.
J Biol Chem
; 298(8): 102172, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753347
6.
Reversible association with motor proteins (RAMP): A streptavidin-based method to manipulate organelle positioning.
PLoS Biol
; 17(5): e3000279, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31100061
7.
A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1.
BMC Biol
; 19(1): 218, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34592985
8.
Autophagy in Myelinating Glia.
J Neurosci
; 40(2): 256-266, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31744863
9.
Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.
PLoS Genet
; 14(4): e1007363, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29698489
10.
The role of AP-4 in cargo export from the trans-Golgi network and hereditary spastic paraplegia.
Biochem Soc Trans
; 48(5): 1877-1888, 2020 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33084855
11.
Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.
Mol Cell Proteomics
; 17(8): 1612-1626, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29773673
12.
AP-4 mediates export of ATG9A from the trans-Golgi network to promote autophagosome formation.
Proc Natl Acad Sci U S A
; 114(50): E10697-E10706, 2017 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29180427
13.
BORC/kinesin-1 ensemble drives polarized transport of lysosomes into the axon.
Proc Natl Acad Sci U S A
; 114(14): E2955-E2964, 2017 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28320970
14.
Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
Cell Mol Life Sci
; 80(3): 81, 2023 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869920
15.
Site-1 protease and lysosomal homeostasis.
Biochim Biophys Acta Mol Cell Res
; 1864(11 Pt B): 2162-2168, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28693924
16.
Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.
Hum Mol Genet
; 24(23): 6826-35, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26385638
17.
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
Hum Mol Genet
; 24(12): 3497-505, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25788519
18.
Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).
Hum Mutat
; 35(3): 368-76, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375680
19.
The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia.
Prog Neurobiol
; 234: 102575, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38281682
20.
Messenger RNA transport on lysosomal vesicles maintains axonal mitochondrial homeostasis and prevents axonal degeneration.
Nat Neurosci
; 27(6): 1087-1102, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38600167