Detalhe da pesquisa
1.
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Genet Med
; 23(12): 2369-2377, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341521
2.
Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria.
J Am Soc Nephrol
; 31(8): 1796-1814, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641396
3.
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
4.
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
5.
Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.
Hum Mol Genet
; 26(3): 538-551, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28062662
6.
Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II.
Mol Cell Proteomics
; 16(3): 438-450, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28062798
7.
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
8.
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.
PLoS Genet
; 11(8): e1005454, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26284655
9.
Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2.
Traffic
; 16(10): 1127-36, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26219725
10.
Lrp1/LDL Receptor Play Critical Roles in Mannose 6-Phosphate-Independent Lysosomal Enzyme Targeting.
Traffic
; 16(7): 743-59, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25786328
11.
Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development.
Biochim Biophys Acta
; 1862(9): 1570-80, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27239697
12.
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
13.
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
14.
Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I.
Hum Mol Genet
; 24(24): 7075-86, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26427607
15.
Single-chain antibody-fragment M6P-1 possesses a mannose 6-phosphate monosaccharide-specific binding pocket that distinguishes N-glycan phosphorylation in a branch-specific manner.
Glycobiology
; 26(2): 181-92, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26503547
16.
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.
PLoS Genet
; 9(12): e1003988, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24367272
17.
Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control.
J Lipid Res
; 56(8): 1625-32, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26108224
18.
Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity.
J Biol Chem
; 289(40): 27992-8005, 2014 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25135642
19.
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
20.
Transport of the GlcNAc-1-phosphotransferase α/ß-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif.
J Biol Chem
; 288(2): 1238-49, 2013 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23192343