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

Por Pshezhetsky, Alexey V
Publicado no Rare Dis (2015)

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

Por Pshezhetsky, Alexey V.
Publicado no Autophagy (2015)

Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

Por Feldhammer, Matthew, Durand, Stéphanie, Pshezhetsky, Alexey V.
Publicado em 2009

Analysis of the Biogenesis of Heparan Sulfate Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Provides Insights into the Mechanism Underlying Its Complete Deficiency in Mucopolysacc...

Por Durand, Stéphanie, Feldhammer, Matthew, Bonneil, Éric, Thibault, Pierre, Pshezhetsky, Alexey V.
Publicado em 2010

Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings

Por Pan, Xuefang, Wang, Yanting, Lübke, Torben, Hinek, Aleksander, Pshezhetsky, Alexey V.
Publicado no PLoS One (2017)

Identification of Selective Nanomolar Inhibitors of the Human Neuraminidase, NEU4

Por Albohy, Amgad, Zhang, Yi, Smutova, Victoria, Pshezhetsky, Alexey V., Cairo, Christopher W.
Publicado em 2013

Spectral optical coherence tomography in a patient with type I sialidosis

Por Michalewska, Zofia, Gajos, Agata, Michalewski, Janusz, Nawrocki, Jerzy, Pshezhetsky, Alexey V., Bogucki, Andrzej
Publicado em 2011

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

Por Choi, Yoo, Tuzikov, Alexander B., Ovchinnikova, Tatyana V., Bovin, Nicolai V., Pshezhetsky, Alexey V.
Publicado no JIMD Rep (2015)

Structural Basis for Substrate Specificity of Mammalian Neuraminidases

Por Smutova, Victoria, Albohy, Amgad, Pan, Xuefang, Korchagina, Elena, Miyagi, Taeko, Bovin, Nicolai, Cairo, Christopher W., Pshezhetsky, Alexey V.
Publicado em 2014

Atypical juvenile presentation of G(M2) gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene()

Por Martins, Carla, Brunel-Guitton, Catherine, Lortie, Anne, Gauvin, France, Morales, Carlos R., Mitchell, Grant A., Pshezhetsky, Alexey V.
Publicado no Mol Genet Metab Rep (2017)

Regulation of Phagocytosis in Macrophages by Neuraminidase 1

Por Seyrantepe, Volkan, Iannello, Alexandre, Liang, Feng, Kanshin, Evgeny, Jayanth, Preethi, Samarani, Suzanne, Szewczuk, Myron R., Ahmad, Ali, Pshezhetsky, Alexey V.
Publicado em 2010

Caspase activation regulates the extracellular export of autophagic vacuoles

Por Sirois, Isabelle, Groleau, Jessika, Pallet, Nicolas, Brassard, Nathalie, Hamelin, Katia, Londono, Irène, Pshezhetsky, Alexey V., Bendayan, Moise, Hébert, Marie-Josée
Publicado em 2012

Serine Carboxypeptidase SCPEP1 and Cathepsin A Play Complementary Roles in Regulation of Vasoconstriction via Inactivation of Endothelin-1

Por Pan, Xuefang, Grigoryeva, Lubov, Seyrantepe, Volkan, Peng, Junzheng, Kollmann, Katrin, Tremblay, Johanne, Lavoie, Julie L., Hinek, Aleksander, Lübke, Torben, Pshezhetsky, Alexey V.
Publicado em 2014

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

Por Morales, Carlos R., Grigoryeva, Lubov S., Pan, Xuefang, Bruno, Luigi, Hickson, Gilles, Ngo, Michael H., McMaster, Christopher R., Samuels, Mark E., Pshezhetsky, Alexey V.
Publicado no Mol Genet Metab Rep (2014)

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

Por Katorcha, Elizaveta, Klimova, Nina, Makarava, Natallia, Savtchenko, Regina, Pan, Xuefang, Annunziata, Ida, Takahashi, Kohta, Miyagi, Taeko, Pshezhetsky, Alexey V., d’Azzo, Alessandra, Baskakov, Ilia V.
Publicado no PLoS One (2015)

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

Por Matos, Liliana, Canals, Isaac, Dridi, Larbi, Choi, Yoo, Prata, Maria João, Jordan, Peter, Desviat, Lourdes R, Pérez, Belén, Pshezhetsky, Alexey V, Grinberg, Daniel, Alves, Sandra, Vilageliu, Lluïsa
Publicado no Orphanet J Rare Dis (2014)

Positive Regulation of Insulin Signaling by Neuraminidase 1

Por Dridi, Larbi, Seyrantepe, Volkan, Fougerat, Anne, Pan, Xuefang, Bonneil, Éric, Thibault, Pierre, Moreau, Allain, Mitchell, Grant A., Heveker, Nikolaus, Cairo, Christopher W., Issad, Tarik, Hinek, Alexander, Pshezhetsky, Alexey V.
Publicado em 2013

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

Por Seyrantepe, Volkan, Lema, Pablo, Caqueret, Aurore, Dridi, Larbi, Bel Hadj, Samar, Carpentier, Stephane, Boucher, Francine, Levade, Thierry, Carmant, Lionel, Gravel, Roy A., Hamel, Edith, Vachon, Pascal, Di Cristo, Graziella, Michaud, Jacques L., Morales, Carlos R., Pshezhetsky, Alexey V.
Publicado em 2010

De Novo Mutations in Moderate or Severe Intellectual Disability

Por Hamdan, Fadi F., Srour, Myriam, Capo-Chichi, Jose-Mario, Daoud, Hussein, Nassif, Christina, Patry, Lysanne, Massicotte, Christine, Ambalavanan, Amirthagowri, Spiegelman, Dan, Diallo, Ousmane, Henrion, Edouard, Dionne-Laporte, Alexandre, Fougerat, Anne, Pshezhetsky, Alexey V., Venkateswaran, Sunita, Rouleau, Guy A., Michaud, Jacques L.
Publicado em 2014

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

Por Martins, Carla, Hůlková, Helena, Dridi, Larbi, Dormoy-Raclet, Virginie, Grigoryeva, Lubov, Choi, Yoo, Langford-Smith, Alexander, Wilkinson, Fiona L., Ohmi, Kazuhiro, DiCristo, Graziella, Hamel, Edith, Ausseil, Jerôme, Cheillan, David, Moreau, Alain, Svobodová, Eva, Hájková, Zuzana, Tesařová, Markéta, Hansíková, Hana, Bigger, Brian W., Hrebícek, Martin, Pshezhetsky, Alexey V.
Publicado no Brain (2015)