Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression

by Camila Pará, Poulomee Bose, Alexey V. Pshezhetsky
Published 2020-02-01

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

by Matthew Feldhammer, Stéphanie Durand, Alexey V Pshezhetsky
Published 2009-10-01

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

by Regiana Oliveira, Louis Hermo, Alexey V Pshezhetsky, Carlos R Morales
Published 2018-01-01

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

by Rachel Heon-Roberts, Annie L. A. Nguyen, Alexey V. Pshezhetsky
Published 2020-01-01

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

by Xuefang Pan, Yanting Wang, Torben Lübke, Aleksander Hinek, Alexey V Pshezhetsky
Published 2017-01-01

3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria

by Lyudmila I. Ashmarina, Alexey V. Pshezhetsky, Steven S. Branda, Grazia Isaya, Grant A. Mitchell
Published 1999-01-01

Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms

by Gustavo M. Viana, David A. Priestman, Frances M. Platt, Shaukat Khan, Shunji Tomatsu, Alexey V. Pshezhetsky
Published 2020-02-01

Structural basis for substrate specificity of mammalian neuraminidases.

by Victoria Smutova, Amgad Albohy, Xuefang Pan, Elena Korchagina, Taeko Miyagi, Nicolai Bovin, Christopher W Cairo, Alexey V Pshezhetsky
Published 2014-01-01

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

by Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R. Morales, Grant A. Mitchell, Alexey V. Pshezhetsky
Published 2017-06-01

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

by Anne Fougerat, Xuefang Pan, Victoria Smutova, Nikolaus Heveker, Christopher W. Cairo, Tarik Issad, Bruno Larrivée, Jeffrey A. Medin, Alexey V. Pshezhetsky
Published 2018-06-01

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

by Xuefang Pan, Lubov Grigoryeva, Volkan Seyrantepe, Junzheng Peng, Katrin Kollmann, Johanne Tremblay, Julie L Lavoie, Aleksander Hinek, Torben Lübke, Alexey V Pshezhetsky
Published 2014-02-01

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

by Carlos R. Morales, Lubov S. Grigoryeva, Xuefang Pan, Luigi Bruno, Gilles Hickson, Michael H. Ngo, Christopher R. McMaster, Mark E. Samuels, Alexey V. Pshezhetsky
Published 2014-01-01

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

by Elizaveta Katorcha, Nina Klimova, Natallia Makarava, Regina Savtchenko, Xuefang Pan, Ida Annunziata, Kohta Takahashi, Taeko Miyagi, Alexey V Pshezhetsky, Alessandra d'Azzo, Ilia V Baskakov
Published 2015-01-01

Persistent reduction in sialylation of cerebral glycoproteins following postnatal inflammatory exposure

by Ekaterina P. Demina, Wyston C. Pierre, Annie L. A. Nguyen, Irene Londono, Bela Reiz, Chunxia Zou, Radhika Chakraberty, Christopher W. Cairo, Alexey V. Pshezhetsky, Gregory A. Lodygensky
Published 2018-12-01

Cathepsin B-associated Activation of Amyloidogenic Pathway in Murine Mucopolysaccharidosis Type I Brain Cortex

by Gustavo Monteiro Viana, Esteban Alberto Gonzalez, Marcela Maciel Palacio Alvarez, Renan Pelluzzi Cavalheiro, Cinthia Castro do Nascimento, Guilherme Baldo, Vânia D’Almeida, Marcelo Andrade de Lima, Alexey V. Pshezhetsky, Helena Bonciani Nader
Published 2020-02-01

Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss.

by Volkan Seyrantepe, Pablo Lema, Aurore Caqueret, Larbi Dridi, Samar Bel Hadj, Stephane Carpentier, Francine Boucher, Thierry Levade, Lionel Carmant, Roy A Gravel, Edith Hamel, Pascal Vachon, Graziella Di Cristo, Jacques L Michaud, Carlos R Morales, Alexey V Pshezhetsky
Published 2010-09-01

Neuraminidases 1 and 3 Trigger Atherosclerosis by Desialylating Low‐Density Lipoproteins and Increasing Their Uptake by Macrophages

by Ekaterina P. Demina, Victoria Smutova, Xuefang Pan, Anne Fougerat, Tianlin Guo, Chunxia Zou, Radhika Chakraberty, Brendan D. Snarr, Tze C. Shiao, Rene Roy, Alexander N. Orekhov, Taeko Miyagi, Muriel Laffargue, Donald C. Sheppard, Christopher W. Cairo, Alexey V. Pshezhetsky
Published 2021-02-01

De novo mutations in moderate or severe intellectual disability.

by Fadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo, Edouard Henrion, Alexandre Dionne-Laporte, Anne Fougerat, Alexey V Pshezhetsky, Sunita Venkateswaran, Guy A Rouleau, Jacques L Michaud
Published 2014-10-01