Hasil Pencarian - Alexey V Pshezhetsky

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  1. 1
    Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

    Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. oleh Matthew Feldhammer, Stéphanie Durand, Alexey V Pshezhetsky

    Diterbitkan 2009-10-01
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  2. 2
    Presence of aberrant epididymal tubules revealing undifferentiated epithelial cells and absence of spermatozoa in a combined neuraminidase-3 and -4 deficient adult mouse model.

    Presence of aberrant epididymal tubules revealing undifferentiated epithelial cells and absence of spermatozoa in a combined neuraminidase-3 and -4 deficient adult mouse model. oleh Regiana Oliveira, Louis Hermo, Alexey V Pshezhetsky, Carlos R Morales

    Diterbitkan 2018-01-01
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  3. 3
    Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings.

    Mice, double deficient in lysosomal serine carboxypeptidases Scpep1 and Cathepsin A develop the hyperproliferative vesicular corneal dystrophy and hypertrophic skin thickenings. oleh Xuefang Pan, Yanting Wang, Torben Lübke, Aleksander Hinek, Alexey V Pshezhetsky

    Diterbitkan 2017-01-01
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  4. 4
    3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria

    3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria oleh Lyudmila I. Ashmarina, Alexey V. Pshezhetsky, Steven S. Branda, Grazia Isaya, Grant A. Mitchell

    Diterbitkan 1999-01-01
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  5. 5
    Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC

    Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC oleh Xuefang Pan, Antoine Caillon, Shuxian Fan, Shaukat Khan, Shunji Tomatsu, Alexey V. Pshezhetsky

    Diterbitkan 2024-05-01
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  6. 6
    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.

    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... oleh Lorena Carvelli, Louis Hermo, Cristian O'Flaherty, Richard Oko, Alexey V Pshezhetsky, Carlos R Morales

    Diterbitkan 2023-01-01
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  7. 7
    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

    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... oleh Lorena Carvelli, Louis Hermo, Cristian O’Flaherty, Richard Oko, Alexey V. Pshezhetsky, Carlos R. Morales

    Diterbitkan 2023-01-01
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  8. 8
    Severe central nervous system demyelination in Sanfilippo disease

    Severe central nervous system demyelination in Sanfilippo disease oleh Mahsa Taherzadeh, Mahsa Taherzadeh, Erjun Zhang, Irene Londono, Benjamin De Leener, Benjamin De Leener, Sophie Wang, Jonathan D. Cooper, Timothy E. Kennedy, Timothy E. Kennedy, Carlos R. Morales, Zesheng Chen, Gregory A. Lodygensky, Alexey V. Pshezhetsky, Alexey V. Pshezhetsky

    Diterbitkan 2023-12-01
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  9. 9
    Structural basis for substrate specificity of mammalian neuraminidases.

    Structural basis for substrate specificity of mammalian neuraminidases. oleh Victoria Smutova, Amgad Albohy, Xuefang Pan, Elena Korchagina, Taeko Miyagi, Nicolai Bovin, Christopher W Cairo, Alexey V Pshezhetsky

    Diterbitkan 2014-01-01
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  10. 10
    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

    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 oleh Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R. Morales, Grant A. Mitchell, Alexey V. Pshezhetsky

    Diterbitkan 2017-06-01
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  11. 11
    Neuraminidase 1 activates insulin receptor and reverses insulin resistance in obese mice

    Neuraminidase 1 activates insulin receptor and reverses insulin resistance in obese mice oleh Anne Fougerat, Xuefang Pan, Victoria Smutova, Nikolaus Heveker, Christopher W. Cairo, Tarik Issad, Bruno Larrivée, Jeffrey A. Medin, Alexey V. Pshezhetsky

    Diterbitkan 2018-06-01
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  12. 12
    Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis

    Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis oleh Natalie M. Deschenes, Camilyn Cheng, Prem Khanal, Brianna M. Quinville, Alex E. Ryckman, Melissa Mitchell, Alexey V. Pshezhetsky, Jagdeep S. Walia, Jagdeep S. Walia

    Diterbitkan 2023-11-01
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  13. 13
    Serine carboxypeptidase SCPEP1 and Cathepsin A play complementary roles in regulation of vasoconstriction via inactivation of endothelin-1.

    Serine carboxypeptidase SCPEP1 and Cathepsin A play complementary roles in regulation of vasoconstriction via inactivation of endothelin-1. oleh Xuefang Pan, Lubov Grigoryeva, Volkan Seyrantepe, Junzheng Peng, Katrin Kollmann, Johanne Tremblay, Julie L Lavoie, Aleksander Hinek, Torben Lübke, Alexey V Pshezhetsky

    Diterbitkan 2014-02-01
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  14. 14
    Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression

    Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression oleh Carlos R. Morales, Lubov S. Grigoryeva, Xuefang Pan, Luigi Bruno, Gilles Hickson, Michael H. Ngo, Christopher R. McMaster, Mark E. Samuels, Alexey V. Pshezhetsky

    Diterbitkan 2014-01-01
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  15. 15
    Loss of Cellular Sialidases Does Not Affect the Sialylation Status of the Prion Protein but Increases the Amounts of Its Proteolytic Fragment C1.

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

    Diterbitkan 2015-01-01
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  16. 16
    Persistent reduction in sialylation of cerebral glycoproteins following postnatal inflammatory exposure

    Persistent reduction in sialylation of cerebral glycoproteins following postnatal inflammatory exposure oleh 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

    Diterbitkan 2018-12-01
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  17. 17
    Cathepsin B-associated Activation of Amyloidogenic Pathway in Murine Mucopolysaccharidosis Type I Brain Cortex

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

    Diterbitkan 2020-02-01
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  18. 18
    Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency

    Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency oleh Murtaza S. Nagree, Jitka Rybova, Annie Kleynerman, Carissa J. Ahrenhoerster, Jennifer T. Saville, TianMeng Xu, Maxwell Bachochin, William M. McKillop, Michael W. Lawlor, Alexey V. Pshezhetsky, Olena Isaeva, Matthew D. Budde, Maria Fuller, Jeffrey A. Medin

    Diterbitkan 2023-05-01
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  19. 19
    Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption

    Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption oleh Ikhui Kho, Ekaterina P. Demina, Xuefang Pan, Irene Londono, Christopher W. Cairo, Luisa Sturiale, Angelo Palmigiano, Angela Messina, Domenico Garozzo, Roth-Visal Ung, Fabrice Mac-Way, Éric Bonneil, Pierre Thibault, Mathieu Lemaire, Carlos R. Morales, Alexey V. Pshezhetsky

    Diterbitkan 2023-10-01
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  20. 20
    Early defects in mucopolysaccharidosis type IIIC disrupt excitatory synaptic transmission

    Early defects in mucopolysaccharidosis type IIIC disrupt excitatory synaptic transmission oleh Camila Pará, Poulomee Bose, Luigi Bruno, Erika Freemantle, Mahsa Taherzadeh, Xuefang Pan, Chanshuai Han, Peter S. McPherson, Jean-Claude Lacaille, Éric Bonneil, Pierre Thibault, Claire O’Leary, Brian Bigger, Carlos Ramon Morales, Graziella Di Cristo, Alexey V. Pshezhetsky

    Diterbitkan 2021-08-01
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