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Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI.
- Published in:
- Frontiers in Physiology, 2022, v. 13, p. 1, doi. 10.3389/fphys.2022.998039
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- Article
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
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- EMBO Molecular Medicine, 2021, v. 13, n. 10, p. 1, doi. 10.15252/emmm.202013742
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- Publication type:
- Article
Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.
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- Human Molecular Genetics, 2017, v. 26, n. 3, p. 538, doi. 10.1093/hmg/ddw411
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- Publication type:
- Article
Identification of the interaction domains between α- and γ-subunits of Glc NAc-1-phosphotransferase.
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- FEBS Letters, 2016, v. 590, n. 23, p. 4287, doi. 10.1002/1873-3468.12456
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- Publication type:
- Article
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.
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- Glycobiology, 2016, v. 26, n. 2, p. 181, doi. 10.1093/glycob/cwv093
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- Publication type:
- Article
Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7075, doi. 10.1093/hmg/ddv407
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- Publication type:
- Article
Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6826, doi. 10.1093/hmg/ddv387
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- Publication type:
- Article
Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2.
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- 2015
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- Publication type:
- Other
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 8, p. 1, doi. 10.1371/journal.pgen.1005454
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- Article
Lrp1/ LDL Receptor Play Critical Roles in Mannose 6-Phosphate-Independent Lysosomal Enzyme Targeting.
- Published in:
- Traffic, 2015, v. 16, n. 7, p. 743, doi. 10.1111/tra.12284
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- Publication type:
- Article
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3497, doi. 10.1093/hmg/ddv100
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- Publication type:
- Article
Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis.
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- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0127204
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- Publication type:
- Article
Evaluation of butyrate-induced production of a mannose-6-phosphorylated therapeutic enzyme using parallel bioreactors.
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- Biotechnology & Applied Biochemistry, 2014, v. 61, n. 2, p. 184, doi. 10.1002/bab.1151
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- Publication type:
- Article
Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of Glc NAc-1-Phosphotransferase Precursor Protein ( GNPTAB).
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- Human Mutation, 2014, v. 35, n. 3, p. 368, doi. 10.1002/humu.22502
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- Publication type:
- Article
Interaction of Glutaric Aciduria Type 1-Related glutaryl-CoA Dehydrogenase with Mitochondrial Matrix Proteins.
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- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0087715
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- Publication type:
- Article
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.
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- EMBO Molecular Medicine, 2013, v. 5, n. 12, p. 1871, doi. 10.1002/emmm.201302979
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- Publication type:
- Article
A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System.
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- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003988
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- Publication type:
- Article
The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.
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- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5019, doi. 10.1093/hmg/dds343
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- Publication type:
- Article
Disruption of the Autophagy-Lysosome Pathway Is Involved in Neuropathology of the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis.
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- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035493
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- Publication type:
- Article
High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons.
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- Journal of Neuroscience Research, 2012, v. 90, n. 3, p. 568, doi. 10.1002/jnr.22773
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- Publication type:
- Article
Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.
- Published in:
- Molecular Medicine, 2011, v. 17, n. 11/12, p. 1253, doi. 10.2119/molmed.2010.00241
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- Publication type:
- Article
N-Glycans and Glycosylphosphatidylinositol-Anchor Act on Polarized Sorting of Mouse PrP<sup>C</sup> in Madin-Darby Canine Kidney Cells.
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- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024624
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- Publication type:
- Article
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1634, doi. 10.1002/ajmg.a.34053
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- Publication type:
- Article
Lysosomal Targeting of the CLN7 Membrane Glycoprotein and Transport Via the Plasma Membrane Require a Dileucine Motif.
- Published in:
- Traffic, 2010, v. 11, n. 7, p. 987, doi. 10.1111/j.1600-0854.2010.01073.x
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- Publication type:
- Article
Protein Kinase A Dependent Phosphorylation of Apical Membrane Antigen 1 Plays an Important Role in Erythrocyte Invasion by the Malaria Parasite.
- Published in:
- PLoS Pathogens, 2010, v. 6, n. 6, p. 1, doi. 10.1371/journal.ppat.1000941
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- Publication type:
- Article
Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines.
- Published in:
- Glycobiology, 2010, v. 20, n. 2, p. 248, doi. 10.1093/glycob/cwp171
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- Publication type:
- Article
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. E1163, doi. 10.1002/humu.21184
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- Publication type:
- Article
Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases.
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- Biological Chemistry, 2009, v. 390, n. 7, p. 521, doi. 10.1515/BC.2009.076
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- Publication type:
- Article
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E651, doi. 10.1002/humu.21010
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- Publication type:
- Article
Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cells.
- Published in:
- Biological Chemistry, 2009, v. 390, n. 1, p. 41, doi. 10.1515/BC.2009.009
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- Publication type:
- Article
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 24, p. 3854, doi. 10.1093/hmg/ddn284
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- Publication type:
- Article
Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias.
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- Pflügers Archiv: European Journal of Physiology, 2008, v. 457, n. 1, p. 223, doi. 10.1007/s00424-008-0489-2
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- Publication type:
- Article
Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis.
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- Journal of Neurochemistry, 2008, v. 106, n. 3, p. 1415, doi. 10.1111/j.1471-4159.2008.05497.x
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- Publication type:
- Article
The Mutation p.Ser298Pro in the sulphamidase gene ( SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A Syndrome).
- Published in:
- Human Mutation, 2008, v. 29, n. 5, p. 770, doi. 10.1002/humu.20738
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- Publication type:
- Article
Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.
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- Journal of Neurochemistry, 2007, v. 103, n. 6, p. 2177, doi. 10.1111/j.1471-4159.2007.04920.x
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- Publication type:
- Article
Alteration of the insulin-like growth factor axis during in vitro differentiation of the human osteosarcoma cell line HOS 58.
- Published in:
- Journal of Cellular Biochemistry, 2007, v. 102, n. 1, p. 28, doi. 10.1002/jcb.21274
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- Publication type:
- Article
3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3.
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- Journal of Molecular Medicine, 2007, v. 85, n. 7, p. 763, doi. 10.1007/s00109-007-0174-5
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- Publication type:
- Article
C-Terminal Prenylation of the CLN3 Membrane Glycoprotein Is Required for Efficient Endosomal Sorting to Lysosomes.
- Published in:
- Traffic, 2007, v. 8, n. 4, p. 431, doi. 10.1111/j.1600-0854.2007.00537.x
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- Publication type:
- Article
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene ( GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 830, doi. 10.1002/humu.9443
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- Publication type:
- Article
Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase.
- Published in:
- Nature Medicine, 2005, v. 11, n. 10, p. 1109, doi. 10.1038/nm1305
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- Publication type:
- Article
A novel mutation in UDP- N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.
- Published in:
- Human Mutation, 2004, v. 24, n. 6, p. 535, doi. 10.1002/humu.9293
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- Publication type:
- Article
IGF-binding protein-3 fragments in plasma of a child with acute renal failure.
- Published in:
- Pediatric Nephrology, 2004, v. 19, n. 12, p. 1418, doi. 10.1007/s00467-004-1622-x
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- Publication type:
- Article
Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblasts.
- Published in:
- European Journal of Endocrinology, 2004, v. 151, n. 4, p. 0521
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- Publication type:
- Article
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 559, doi. 10.1002/humu.20037
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- Publication type:
- Article
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.
- Published in:
- Glycobiology, 2004, v. 14, n. 4, p. 1, doi. 10.1093/glycob/cwh054
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- Publication type:
- Article
Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 190, doi. 10.1007/s00439-002-0849-5
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- Publication type:
- Article
Isolation and characterization of circulating fragments of the insulin-like growth factor binding protein-3
- Published in:
- FEBS Letters, 2002, v. 518, n. 1-3, p. 124, doi. 10.1016/S0014-5793(02)02673-X
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- Publication type:
- Article
Decreased intracellular degradation of insulin-like growth factor binding protein-3 in cathepsin L-deficient fibroblasts
- Published in:
- FEBS Letters, 2002, v. 510, n. 3, p. 211, doi. 10.1016/S0014-5793(01)03267-7
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- Publication type:
- Article
Regulation of the components of the 150 kDa IGF binding protein complex in cocultures of rat hepatocytes and Kupffer Cells by 3′,5′-cyclic adenosine monophosphate.
- Published in:
- Journal of Cellular Physiology, 2001, v. 186, n. 3, p. 425, doi. 10.1002/1097-4652(2000)9999:999<000::AID-JCP1036>3.0.CO;2-Y
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- Publication type:
- Article
Low Temperature Blocks Transport and Sorting of Cathepsin D in Fibroblasts.
- Published in:
- Biological Chemistry, 1988, v. 369, n. 1, p. 441
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- Publication type:
- Article