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ArticlesPeer ReviewedFull Text
De Novo Mutations in Moderate or Severe Intellectual Disability
Author / Creator: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.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2014-10, Vol.10 (10), p.e1004772
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Structural Basis for Substrate Specificity of Mammalian Neuraminidases
Author / Creator:Smutova, Victoria ; Albohy, Amgad ; Pan, Xuefang ; Korchagina, Elena ; Miyagi, Taeko ; Bovin, Nicolai ; Cairo, Christopher W. ; Pshezhetsky, Alexey V.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-09, Vol.9 (9), p.e106320
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A genome-wide association study identifies novel risk loci for type 2 diabetes
Author / Creator:Sladek, Robert ; Rocheleau, Ghislain ; Rung, Johan ; Dina, Christian ; Shen, Lishuang ; Serre, David ; Boutin, Philippe ; Vincent, Daniel ; Belisle, Alexandre ; Hadjadj, Samy ; Balkau, Beverley ; Heude, Barbara ; Charpentier, Guillaume ; Hudson, Thomas J. ; Montpetit, Alexandre ; Pshezhetsky, Alexey V. ; Prentki, Marc ; Posner, Barry I. ; Balding, David J. ; Meyre, David ; Polychronakos, Constantin ; Froguel, Philippe
Publisher:London: Nature Publishing Group UK
Journal title:Nature, 2007-02, Vol.445 (7130), p.881-885
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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...
Author / Creator:Carvelli, Lorena ; Hermo, Louis ; O’Flaherty, Cristian ; Oko, Richard ; Pshezhetsky, Alexey V. ; Morales, Carlos R.
Publisher:San Francisco: Public Library of Science
Journal title:PloS one, 2023-09, Vol.18 (9), p.e0292157
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ArticlesPeer ReviewedFull Text
Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression
Author / Creator:Pará, Camila ; Bose, Poulomee ; Pshezhetsky, Alexey V.
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2020-02, Vol.9 (3), p.616
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ArticlesPeer ReviewedFull Text
Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C
Author / Creator:Feldhammer, Matthew ; Durand, Stéphanie ; Pshezhetsky, Alexey V.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2009-10, Vol.4 (10), p.e7434
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ArticlesPeer ReviewedFull Text
Presence of aberrant epididymal tubules revealing undifferentiated epithelial cells and absence of spermatozoa in a combined neuraminidase-3 and -4 deficient adult mouse model
Author / Creator:Oliveira, Regiana ; Hermo, Louis ; Pshezhetsky, Alexey V. ; Morales, Carlos R.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-10, Vol.13 (10), p.e0206173
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Positive Regulation of Insulin Signaling by Neuraminidase 1
Author / Creator: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.
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2013-07, Vol.62 (7), p.2338-2346
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Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis
Author / Creator:Deschenes, Natalie M. ; Cheng, Camilyn ; Khanal, Prem ; Quinville, Brianna M. ; Ryckman, Alex E. ; Mitchell, Melissa ; Pshezhetsky, Alexey V. ; Walia, Jagdeep S.
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2023-11, Vol.16, p.1242814
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Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC
Author / Creator:Pan, Xuefang ; Caillon, Antoine ; Fan, Shuxian ; Khan, Shaukat ; Tomatsu, Shunji ; Pshezhetsky, Alexey V.
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2024-05, Vol.13 (10), p.877
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Cathepsin B-associated Activation of Amyloidogenic Pathway in Murine Mucopolysaccharidosis Type I Brain Cortex
Author / Creator:Viana, Gustavo Monteiro ; Gonzalez, Esteban Alberto ; Alvarez, Marcela Maciel Palacio ; Cavalheiro, Renan Pelluzzi ; do Nascimento, Cinthia Castro ; Baldo, Guilherme ; D’Almeida, Vânia ; de Lima, Marcelo Andrade ; Pshezhetsky, Alexey V. ; Nader, Helena Bonciani
Publisher:Switzerland: MDPI
Journal title:International journal of molecular sciences, 2020-02, Vol.21 (4), p.1459
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ArticlesPeer ReviewedFull Text
Severe central nervous system demyelination in Sanfilippo disease
Author / Creator:Taherzadeh, Mahsa ; Zhang, Erjun ; Londono, Irene ; De Leener, Benjamin ; Wang, Sophie ; Cooper, Jonathan D. ; Kennedy, Timothy E. ; Morales, Carlos R. ; Chen, Zesheng ; Lodygensky, Gregory A. ; Pshezhetsky, Alexey V.
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2023-12, Vol.16, p.1323449
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ArticlesPeer ReviewedFull Text
Persistent reduction in sialylation of cerebral glycoproteins following postnatal inflammatory exposure
Author / Creator:Demina, Ekaterina P. ; Pierre, Wyston C. ; Nguyen, Annie L. A. ; Londono, Irene ; Reiz, Bela ; Zou, Chunxia ; Chakraberty, Radhika ; Cairo, Christopher W. ; Pshezhetsky, Alexey V. ; Lodygensky, Gregory A.
Publisher:England: BioMed Central Ltd
Journal title:Journal of neuroinflammation, 2018-12, Vol.15 (1), p.336-14, Article 336
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ArticlesPeer ReviewedFull Text
Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings
Author / Creator:Pan, Xuefang ; Wang, Yanting ; Lübke, Torben ; Hinek, Aleksander ; Pshezhetsky, Alexey V.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-02, Vol.12 (2), p.e0172854
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Loss of Cellular Sialidases Does Not Affect the Sialylation Status of the Prion Protein but Increases the Amounts of Its Proteolytic Fragment C1
Author / Creator: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.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-11, Vol.10 (11), p.e0143218
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Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency
Author / Creator:Nagree, Murtaza S. ; Rybova, Jitka ; Kleynerman, Annie ; Ahrenhoerster, Carissa J. ; Saville, Jennifer T. ; Xu, TianMeng ; Bachochin, Maxwell ; McKillop, William M. ; Lawlor, Michael W. ; Pshezhetsky, Alexey V. ; Isaeva, Olena ; Budde, Matthew D. ; Fuller, Maria ; Medin, Jeffrey A.
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2023-05, Vol.6 (1), p.560-20, Article 560
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Serine Carboxypeptidase SCPEP1 and Cathepsin A Play Complementary Roles in Regulation of Vasoconstriction via Inactivation of Endothelin-1
Author / Creator:Pan, Xuefang ; Grigoryeva, Lubov ; Seyrantepe, Volkan ; Peng, Junzheng ; Kollmann, Katrin ; Tremblay, Johanne ; Lavoie, Julie L. ; Hinek, Aleksander ; Lübke, Torben ; Pshezhetsky, Alexey V.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2014-02, Vol.10 (2), p.e1004146
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Keeping it trim: roles of neuraminidases in CNS function
Author / Creator:Pshezhetsky, Alexey V. ; Ashmarina, Mila
Publisher:New York: Springer US
Journal title:Glycoconjugate journal, 2018-08, Vol.35 (4), p.375-386
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Mice Doubly-Deficient in Lysosomal Hexosaminidase A and Neuraminidase 4 Show Epileptic Crises and Rapid Neuronal Loss
Author / Creator: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.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2010-09, Vol.6 (9), p.e1001118
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ArticlesPeer ReviewedFull Text
Molecular pathology of NEU1 gene in sialidosis
Author / Creator:Seyrantepe, Volkan ; Poupetova, Helena ; Froissart, Roseline ; Zabot, Marie-Thérèse ; Maire, Irène ; Pshezhetsky, Alexey V.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-11, Vol.22 (5), p.343-352
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Showing 1 to 20 of 43 results

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De Novo Mutations in Moderate or Severe Intellectual Disability

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Structural Basis for Substrate Specificity of Mammalian Neuraminidases

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

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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...

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

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

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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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Positive Regulation of Insulin Signaling by Neuraminidase 1

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Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis

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Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC

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

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Severe central nervous system demyelination in Sanfilippo disease

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Persistent reduction in sialylation of cerebral glycoproteins following postnatal inflammatory exposure

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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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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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Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency

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

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Keeping it trim: roles of neuraminidases in CNS function

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

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Molecular pathology of NEU1 gene in sialidosis

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