List of works - Alexey V Pshezhetsky

A genome-wide association study identifies novel risk loci for type 2 diabetes

scientific article

A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency.

scientific article published in July 2018

An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: a candidate molecule for MPS IIIC.

scientific article

Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC

scientific article

Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders

scientific article published on 10 August 2018

Apoptosis of endothelial cells triggers a caspase-dependent anti-apoptotic paracrine loop active on VSMC.

scientific article published on 20 February 2004

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.

scientific article

Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms

scientific article published on 01 February 2020

Brain disease in mucopolysaccharidosis III C mouse: Neuroinflammation, mitochondrial defects and neurodegeneration

Caspase activation regulates the extracellular export of autophagic vacuoles

scientific article

Caspase-3 activation triggers extracellular cathepsin L release and endorepellin proteolysis

scientific article

Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C.

scientific article

De novo mutations in moderate or severe intellectual disability

scientific article

Dependence of pathogen molecule-induced toll-like receptor activation and cell function on Neu1 sialidase

scientific article

Development of a novel noncompetitive antagonist of IL-1 receptor

scientific article published on 01 May 2008

Differential expression of endogenous sialidases of human monocytes during cellular differentiation into macrophages

scientific article

Dominant role for calpain in thromboxane-induced neuromicrovascular endothelial cytotoxicity

scientific article

Elastin-derived peptides potentiate atherosclerosis through the immune Neu1-PI3Kγ pathway.

scientific article

Endothelial stress induces the release of vitamin D-binding protein, a novel growth factor

scientific article published on 26 October 2005

Enzymatic activity of lysosomal carboxypeptidase (cathepsin) A is required for proper elastic fiber formation and inactivation of endothelin-1

scientific article

Gene expression profiles of normal proliferating and differentiating human intestinal epithelial cells: a comparison with the Caco-2 cell model.

scientific article published in November 2006

Global analysis of protein phosphorylation networks in insulin signaling by sequential enrichment of phosphoproteins and phosphopeptides

scientific article published on 23 February 2012

HGSNAT enzyme deficiency results in accumulation of heparan sulfate in podocytes and basement membranes

scientific article published on 03 June 2019

Hyaluronidase 1 and β-hexosaminidase have redundant functions in hyaluronan and chondroitin sulfate degradation

scientific article published on 26 March 2012

Identification of Selective Nanomolar Inhibitors of the Human Neuraminidase, NEU4

scientific article published on 7 May 2013

Identification of selective inhibitors for human neuraminidase isoenzymes using C4,C7-modified 2-deoxy-2,3-didehydro-N-acetylneuraminic acid (DANA) analogues.

scientific article published on 26 March 2013

Loss of Cellular Sialidases Does Not Affect the Sialylation Status of the Prion Protein but Increases the Amounts of Its Proteolytic Fragment C1

scientific article

Lysosomal sialidase (neuraminidase-1) is targeted to the cell surface in a multiprotein complex that facilitates elastic fiber assembly

scientific article

Lysosomal storage of heparan sulfate causes mitochondrial defects, altered autophagy, and neuronal death in the mouse model of mucopolysaccharidosis III type C

scientific article published on 22 May 2015

Metabolism of vertebrate amino sugars with N-glycolyl groups: resistance of α2-8-linked N-glycolylneuraminic acid to enzymatic cleavage

scientific article (publication date: 17 August 2012)

Mice Doubly-Deficient in Lysosomal Hexosaminidase A and Neuraminidase 4 Show Epileptic Crises and Rapid Neuronal Loss ⬇️

scientific article (publication date: September 2010)

Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage

scientific article published on 11 February 2008

Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression

scientific article published on 19 September 2014

Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease

scientific article published on 27 January 2020

Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

scientific article published on 22 June 2019

Molecular pathology of NEU1 gene in sialidosis ⬇️

scientific article published on November 1, 2003

Monocyte differentiation up-regulates the expression of the lysosomal sialidase, Neu1, and triggers its targeting to the plasma membrane via major histocompatibility complex class II-positive compartments

scientific article published on 10 July 2006

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

scientific article

Neu1 desialylation of sialyl alpha-2,3-linked beta-galactosyl residues of TOLL-like receptor 4 is essential for receptor activation and cellular signaling

scientific article published on 29 September 2009

Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells

scientific article

Neuraminidase 1 activates insulin receptor and reverses insulin resistance in obese mice.

scientific article

Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides

scientific article published on 25 April 2017

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.

scientific article

Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate

scientific article published on 23 October 2015

Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes

scientific article

Persistent reduction in sialylation of cerebral glycoproteins following postnatal inflammatory exposure

scientific article published on 05 December 2018

Positive regulation of insulin signaling by neuraminidase 1.

scientific article published on 21 March 2013

Presence of aberrant epididymal tubules revealing undifferentiated epithelial cells and absence of spermatozoa in a combined neuraminidase-3 and -4 deficient adult mouse model

scientific article published in PLoS ONE

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C

scientific article

Proteome Analysis and Functional Expression Identify Mortalin as an Antiapoptotic Gene Induced by Elevation of [Na + ] i /[K + ] i Ratio in Cultured Vascular Smooth Muscle Cells

article

Proteomic analysis of vascular smooth muscle cells treated with ouabain

scientific article published on 01 January 2007

Quantitative analysis of a proteome by N-terminal stable-isotope labelling of tryptic peptides

scientific article published on 01 January 2007

Regulation of phagocytosis in macrophages by neuraminidase 1

scientific article

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene

scientific article published on June 2009

Selective Inhibitors of Human Neuraminidase 3.

scientific article published on 9 February 2018

Serine carboxypeptidase SCPEP1 and Cathepsin A play complementary roles in regulation of vasoconstriction via inactivation of endothelin-1

scientific article (publication date: February 2014)

Serine carboxypeptidases in regulation of vasoconstriction and elastogenesis

scientific article

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

scientific article published on 20 December 2018

Spectral optical coherence tomography in a patient with type I sialidosis

scientific article published on October 2011

Structural basis for substrate specificity of mammalian neuraminidases

scientific article

The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients

scientific article published on 17 June 2006

The stoichiometry of protein phosphorylation in adipocyte lipid droplets: analysis by N-terminal isotope tagging and enzymatic dephosphorylation

scientific article published in November 2009

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

scientific article published on 10 December 2014

Where catabolism meets signalling: neuraminidase 1 as a modulator of cell receptors

scientific article published on 20 September 2011

List of works by Alexey V Pshezhetsky

A genome-wide association study identifies novel risk loci for type 2 diabetes

A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency.

An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: a candidate molecule for MPS IIIC.

Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC

Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders

Apoptosis of endothelial cells triggers a caspase-dependent anti-apoptotic paracrine loop active on VSMC.

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.

Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms

Brain disease in mucopolysaccharidosis III C mouse: Neuroinflammation, mitochondrial defects and neurodegeneration

Caspase activation regulates the extracellular export of autophagic vacuoles

Caspase-3 activation triggers extracellular cathepsin L release and endorepellin proteolysis

Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C.

De novo mutations in moderate or severe intellectual disability

Dependence of pathogen molecule-induced toll-like receptor activation and cell function on Neu1 sialidase

Development of a novel noncompetitive antagonist of IL-1 receptor

Differential expression of endogenous sialidases of human monocytes during cellular differentiation into macrophages

Dominant role for calpain in thromboxane-induced neuromicrovascular endothelial cytotoxicity

Elastin-derived peptides potentiate atherosclerosis through the immune Neu1-PI3Kγ pathway.

Endothelial stress induces the release of vitamin D-binding protein, a novel growth factor

Enzymatic activity of lysosomal carboxypeptidase (cathepsin) A is required for proper elastic fiber formation and inactivation of endothelin-1

Gene expression profiles of normal proliferating and differentiating human intestinal epithelial cells: a comparison with the Caco-2 cell model.

Global analysis of protein phosphorylation networks in insulin signaling by sequential enrichment of phosphoproteins and phosphopeptides

HGSNAT enzyme deficiency results in accumulation of heparan sulfate in podocytes and basement membranes

Hyaluronidase 1 and β-hexosaminidase have redundant functions in hyaluronan and chondroitin sulfate degradation

Identification of Selective Nanomolar Inhibitors of the Human Neuraminidase, NEU4

Identification of selective inhibitors for human neuraminidase isoenzymes using C4,C7-modified 2-deoxy-2,3-didehydro-N-acetylneuraminic acid (DANA) analogues.

Loss of Cellular Sialidases Does Not Affect the Sialylation Status of the Prion Protein but Increases the Amounts of Its Proteolytic Fragment C1

Lysosomal sialidase (neuraminidase-1) is targeted to the cell surface in a multiprotein complex that facilitates elastic fiber assembly

Lysosomal storage of heparan sulfate causes mitochondrial defects, altered autophagy, and neuronal death in the mouse model of mucopolysaccharidosis III type C

Metabolism of vertebrate amino sugars with N-glycolyl groups: resistance of α2-8-linked N-glycolylneuraminic acid to enzymatic cleavage

Mice Doubly-Deficient in Lysosomal Hexosaminidase A and Neuraminidase 4 Show Epileptic Crises and Rapid Neuronal Loss ⬇️

Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage

Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression

Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease

Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

Molecular pathology of NEU1 gene in sialidosis ⬇️

Monocyte differentiation up-regulates the expression of the lysosomal sialidase, Neu1, and triggers its targeting to the plasma membrane via major histocompatibility complex class II-positive compartments

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

Neu1 desialylation of sialyl alpha-2,3-linked beta-galactosyl residues of TOLL-like receptor 4 is essential for receptor activation and cellular signaling

Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells

Neuraminidase 1 activates insulin receptor and reverses insulin resistance in obese mice.

Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.

Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate

Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes

Persistent reduction in sialylation of cerebral glycoproteins following postnatal inflammatory exposure

Positive regulation of insulin signaling by neuraminidase 1.

Presence of aberrant epididymal tubules revealing undifferentiated epithelial cells and absence of spermatozoa in a combined neuraminidase-3 and -4 deficient adult mouse model

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C

Proteome Analysis and Functional Expression Identify Mortalin as an Antiapoptotic Gene Induced by Elevation of [Na + ] i /[K + ] i Ratio in Cultured Vascular Smooth Muscle Cells

Proteomic analysis of vascular smooth muscle cells treated with ouabain

Quantitative analysis of a proteome by N-terminal stable-isotope labelling of tryptic peptides

Regulation of phagocytosis in macrophages by neuraminidase 1

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene

Selective Inhibitors of Human Neuraminidase 3.

Serine carboxypeptidase SCPEP1 and Cathepsin A play complementary roles in regulation of vasoconstriction via inactivation of endothelin-1

Serine carboxypeptidases in regulation of vasoconstriction and elastogenesis

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

Spectral optical coherence tomography in a patient with type I sialidosis

Structural basis for substrate specificity of mammalian neuraminidases

The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients

The stoichiometry of protein phosphorylation in adipocyte lipid droplets: analysis by N-terminal isotope tagging and enzymatic dephosphorylation

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

Where catabolism meets signalling: neuraminidase 1 as a modulator of cell receptors