Detalhe da pesquisa
1.
Localization of active endogenous and exogenous ß-glucocerebrosidase by correlative light-electron microscopy in human fibroblasts.
Traffic
; 20(5): 346-356, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30895685
2.
Nicotiana benthamiana α-galactosidase A1.1 can functionally complement human α-galactosidase A deficiency associated with Fabry disease.
J Biol Chem
; 293(26): 10042-10058, 2018 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29674318
3.
Multiple Domains of GlcNAc-1-phosphotransferase Mediate Recognition of Lysosomal Enzymes.
J Biol Chem
; 291(15): 8295-307, 2016 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833567
4.
Mislocalization of phosphotransferase as a cause of mucolipidosis III αß.
Proc Natl Acad Sci U S A
; 111(9): 3532-7, 2014 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24550498
5.
Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.
Hum Mutat
; 37(7): 623-6, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27038293
6.
Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
J Biol Chem
; 290(5): 3045-56, 2015 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25505245
7.
The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module.
Proc Natl Acad Sci U S A
; 110(25): 10246-51, 2013 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-23733939
8.
Disruption of the Man-6-P targeting pathway in mice impairs osteoclast secretory lysosome biogenesis.
Traffic
; 12(7): 912-24, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21466643
9.
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.
BMC Med Genet
; 14: 106, 2013 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-24103465
10.
Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.
Am J Med Genet A
; 167A(11): 2844-6, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26108976
11.
Activity-Based Probes for Glycosidases: Profiling and Other Applications.
Methods Enzymol
; 598: 217-235, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29306436
12.
Correction to "Detection of Active Mammalian GH31 α-Glucosidases in Health and Disease Using In-Class, Broad-Spectrum Activity-Based Probes".
ACS Cent Sci
; 3(6): 673, 2017 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28691081
13.
Detection of Active Mammalian GH31 α-Glucosidases in Health and Disease Using In-Class, Broad-Spectrum Activity-Based Probes.
ACS Cent Sci
; 2(5): 351-8, 2016 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27280170
14.
The lysosomal enzyme receptor protein (LERP) is not essential, but is implicated in lysosomal function in Drosophila melanogaster.
Biol Open
; 4(10): 1316-25, 2015 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26405051
15.
TGN exit of the cation-independent mannose 6-phosphate receptor does not require acid hydrolase binding.
Cell Logist
; 4(3): e954441, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25610721
16.
hVps41 and VAMP7 function in direct TGN to late endosome transport of lysosomal membrane proteins.
Nat Commun
; 4: 1361, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23322049
17.
Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.
Mol Biol Cell
; 22(8): 1135-47, 2011 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21325625
18.
Autophagy proteins regulate the secretory component of osteoclastic bone resorption.
Dev Cell
; 21(5): 966-74, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22055344
19.
Imaging and imagination: understanding the endo-lysosomal system.
Histochem Cell Biol
; 129(3): 253-66, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18274773