Pshezhetsky, Alexey V.

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

Sladek, R., Rocheleau, G., Rung, J., Dina, C., Shen, L., Serre, D., Boutin, P., Vincent, D., Belisle, A., Hadjadj, S., et al. (2007) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 2,993

De Novo Mutations in Moderate or Severe Intellectual Disability

Hamdan, F. F., Srour, M., Capo-Chichi, J.-M., Daoud, H., Nassif, C., Patry, L., Massicotte, C., Ambalavanan, A., Spiegelman, D., Diallo, O., et al. (2014) · PLoS Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 419

Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis

Pshezhetsky, A. V., Richard, C., Michaud, L., Igdoura, S., Wang, S., Elsliger, M.-A., Qu, J., Leclerc, D., Gravel, R., Dallaire, L., et al. (1997) · Nature Genetics

Lysosomal Storage Disorders ResearchGlycosylation and Glycoproteins Research

Cited by 212

Lysosomal Sialidase (Neuraminidase-1) Is Targeted to the Cell Surface in a Multiprotein Complex That Facilitates Elastic Fiber Assembly

Hinek, A., Pshezhetsky, A. V., von Itzstein, M., & Starcher, B. (2006) · Journal of Biological Chemistry

Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders Research

Cited by 176

Lysosomal multienzyme complex: Biochemistry, genetics, and molecular pathophysiology

Pshezhetsky, A. V., & Ashmarina, M. (2001) · Progress in Nucleic Acid Research and Molecular Biology

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 131

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

Tordo, J., O’Leary, C., Antunes, A. S. L. M., Palomar, N., Aldrin-Kirk, P., Basche, M., Bennett, A., D’Souza, Z., Gleitz, H., Godwin, A., et al. (2018) · Brain

Virus-based gene therapy researchRNA Interference and Gene Delivery

Cited by 113

Enzymatic Activity of Lysosomal Carboxypeptidase (Cathepsin) A Is Required for Proper Elastic Fiber Formation and Inactivation of Endothelin-1

Seyrantepe, V., Hinek, A., Peng, J., Fedjaev, M., Ernest, S., Kadota, Y., Canuel, M., Itoh, K., Morales, C. R., Lavoie, J., et al. (2008) · Circulation

Lysosomal Storage Disorders ResearchNitric Oxide and Endothelin Effects

Cited by 112

Intracellular Distribution of Lysosomal Sialidase Is Controlled by the Internalization Signal in Its Cytoplasmic Tail

Lukong, K. E., Seyrantepe, V., Landry, K., Trudel, S., Ahmad, A., Gahl, W. A., Lefrancois, S., Morales, C. R., & Pshezhetsky, A. V. (2001) · Journal of Biological Chemistry

Cellular transport and secretionGlycosylation and Glycoproteins Research

Cited by 109

Association of N-Acetylgalactosamine-6-sulfate Sulfatase with the Multienzyme Lysosomal Complex of β-Galactosidase, Cathepsin A, and Neuraminidase

Pshezhetsky, A. V., & Potier, M. (1996) · Journal of Biological Chemistry

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 90

Desialylation of surface receptors as a new dimension in cell signaling

Pshezhetsky, A. V., & Ashmarina, L. I. (2013) · Biochemistry (Moscow)

Glycosylation and Glycoproteins ResearchCarbohydrate Chemistry and Synthesis

Cited by 87

Neuropathophysiology of lysosomal storage diseases: synaptic dysfunction as a starting point for disease progression

Pará, C., Bose, P., & Pshezhetsky, A. V. (2020) · Journal of Clinical Medicine

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 49

Direct Affinity Purification and Supramolecular Organization of Human Lysosomal Cathepsin A

Pshezhetsky, A. V., & Potier, M. (1994) · Archives of Biochemistry and Biophysics

Lysosomal Storage Disorders ResearchProtease and Inhibitor Mechanisms

Cited by 37

Human lysosomal .beta.-galactosidase-cathepsin A complex: Definition of the .beta.-galactosidase-binding interface on cathepsin A

Pshezhetsky, A. V., Elsliger, M.-A., Vinogradova, M. V., & Potier, M. (1995) · Biochemistry

Lysosomal Storage Disorders ResearchEnzyme Structure and Function

Cited by 26