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Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings.
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- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172854
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- Publication type:
- Article
The stoichiometry of protein phosphorylation in adipocyte lipid droplets: Analysis by N-terminal isotope tagging and enzymatic dephosphorylation.
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- Proteomics, 2009, v. 9, n. 22, p. 5067, doi. 10.1002/pmic.200800861
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- Article
Subcellular proteomics of cell differentiation: Quantitative analysis of the plasma membrane proteome of Caco-2 cells.
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- Proteomics, 2007, v. 7, n. 13, p. 2201, doi. 10.1002/pmic.200600956
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- Article
Effects of Heparan sulfate acetyl-CoA: Alpha-glucosaminide N-acetyltransferase (HGSNAT) inactivation on the structure and function of epithelial and immune cells of the testis and epididymis and sperm parameters in adult mice.
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- PLoS ONE, 2023, v. 18, n. 9, p. 1, doi. 10.1371/journal.pone.0292157
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- Article
Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides.
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- FASEB Journal, 2017, v. 31, n. 8, p. 3467, doi. 10.1096/fj.201601299R
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- Publication type:
- Article
Apoptosis of endothelial cells triggers a caspase-dependent anti-apoptotic paracrine loop active on VSMC.
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- FASEB Journal, 2004, v. 18, n. 6, p. 705, doi. 10.1096/fj.03-0573fje
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- Publication type:
- Article
Gene expression profiles of normal proliferating and differentiating human intestinal epithelial cells: A comparison with the Caco‐2 cell model.
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- Journal of Cellular Biochemistry, 2006, v. 99, n. 4, p. 1175, doi. 10.1002/jcb.21015
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- Article
Back Cover, Volume 40, Issue 8.
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- Human Mutation, 2019, v. 40, n. 8, p. ii, doi. 10.1002/humu.23893
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- Article
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
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- Human Mutation, 2019, v. 40, n. 8, p. 1084, doi. 10.1002/humu.23752
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- Article
Desialylation of insulin receptors and IGF-1 receptors by neuraminidase-1 controls the net proliferative response of L6 myoblasts to insulin.
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- Glycobiology, 2010, v. 20, n. 5, p. 603, doi. 10.1093/glycob/cwq010
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- Article
Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis.
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- Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1242814
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- Article
Quantitative analysis of a proteome by N-terminal stable-isotope labelling of tryptic peptides.
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- Rapid Communications in Mass Spectrometry: RCM, 2007, v. 21, n. 16, p. 2671, doi. 10.1002/rcm.3128
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- Article
Neuraminidases 1 and 3 Trigger Atherosclerosis by Desialylating Low-Density Lipoproteins and Increasing Their Uptake by Macrophages.
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- 2021
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- Publication type:
- journal article
De Novo Mutations in Moderate or Severe Intellectual Disability.
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- PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004772
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- Article
Serine Carboxypeptidase SCPEP1 and Cathepsin A Play Complementary Roles in Regulation of Vasoconstriction via Inactivation of Endothelin-1.
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- PLoS Genetics, 2014, v. 10, n. 2, p. 1, doi. 10.1371/journal.pgen.1004146
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- Article
Persistent reduction in sialylation of cerebral glycoproteins following postnatal inflammatory exposure.
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- 2018
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- Publication type:
- journal article
Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression.
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- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 616, doi. 10.3390/jcm9030616
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- Publication type:
- Article
Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms.
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- Journal of Clinical Medicine, 2020, v. 9, n. 2, p. 396, doi. 10.3390/jcm9020396
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- Article
Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease.
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- Journal of Clinical Medicine, 2020, v. 9, n. 2, p. 344, doi. 10.3390/jcm9020344
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- Article
Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage.
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- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1556, doi. 10.1093/hmg/ddn043
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- Article
Structural Basis for Substrate Specificity of Mammalian Neuraminidases.
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- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106320
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- Article
Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C.
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- PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007434
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- Article
Differential expression of endogenous sialidases of human monocytes during cellular differentiation into macrophages.
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- FEBS Journal, 2005, v. 272, n. 10, p. 2545, doi. 10.1111/j.1742-4658.2005.04679.x
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- Article
Keeping it trim: roles of neuraminidases in CNS function.
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- Glycoconjugate Journal, 2018, v. 35, n. 4, p. 375, doi. 10.1007/s10719-018-9837-4
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- Article
Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC.
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- Cells (2073-4409), 2024, v. 13, n. 10, p. 877, doi. 10.3390/cells13100877
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- Article
Positive regulation of insulin signaling by neuraminidase 1.
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- 2013
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- Publication type:
- journal article
Positive Regulation of Insulin Signaling by Neuraminidase 1.
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- Diabetes, 2013, v. 62, n. 7, p. 2338, doi. 10.2337/db12-1825
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- Publication type:
- Article
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase ( HGSNAT) gene.
- Published in:
- 2009
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- Publication type:
- Other
Molecular pathology of NEU1 gene in sialidosis(Communicated by Mark H. Paalman).
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- Human Mutation, 2003, v. 22, n. 5, p. 343, doi. 10.1002/humu.10268
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- Article
Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene.
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- Human Mutation, 1998, v. 11, n. 6, p. 461, doi. 10.1002/(SICI)1098-1004(1998)11:6<461::AID-HUMU7>3.0.CO;2-F
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- Article
A genome-wide association study identifies novel risk loci for type 2 diabetes.
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- Nature, 2007, v. 445, n. 7130, p. 881, doi. 10.1038/nature05616
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- Article
Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation.
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- 2001
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- Publication type:
- journal article
Presence of aberrant epididymal tubules revealing undifferentiated epithelial cells and absence of spermatozoa in a combined neuraminidase-3 and -4 deficient adult mouse model.
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- PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0206173
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- Publication type:
- Article
Elastin-derived peptides potentiate atherosclerosis through the immune Neu1–PI3Kγ pathway.
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- Cardiovascular Research, 2014, v. 102, n. 1, p. 118, doi. 10.1093/cvr/cvt336
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- Publication type:
- Article
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 78, doi. 10.1186/s13023-014-0180-y
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- Article
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.
- Published in:
- 2014
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- Publication type:
- journal article
The Janus-like role of neuraminidase isoenzymes in inflammation.
- Published in:
- FASEB Journal, 2022, v. 36, n. 5, p. 1, doi. 10.1096/fj.202101218R
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- Article
Cathepsin B-associated Activation of Amyloidogenic Pathway in Murine Mucopolysaccharidosis Type I Brain Cortex.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1459, doi. 10.3390/ijms21041459
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- Article
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
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- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-04932-w
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- Article
Loss of Cellular Sialidases Does Not Affect the Sialylation Status of the Prion Protein but Increases the Amounts of Its Proteolytic Fragment C1.
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- PLoS ONE, 2015, v. 10, n. 11, p. 1, doi. 10.1371/journal.pone.0143218
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- Article