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Keywords: Lysosomal enzymes
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Journal Articles
In collection:
Rare Disease Translational Research
Lena Marie Westermann, Lutz Fleischhauer, Jonas Vogel, Zsuzsa Jenei-Lanzl, Nataniel Floriano Ludwig, Lynn Schau, Fabio Morellini, Anke Baranowsky, Timur A. Yorgan, Giorgia Di Lorenzo, Michaela Schweizer, Bruna de Souza Pinheiro, Nicole Ruas Guarany, Fernanda Sperb-Ludwig, Fernanda Visioli, Thiago Oliveira Silva, Jamie Soul, Gretl Hendrickx, J. Simon Wiegert, Ida V. D. Schwartz, Hauke Clausen-Schaumann, Frank Zaucke, Thorsten Schinke, Sandra Pohl, Tatyana Danyukova
Journal:
Disease Models & Mechanisms
Dis Model Mech (2020) 13 (11): dmm046425.
Published: 18 November 2020
...-subunit of GlcNAc-1-phosphotransferase, the key enzyme ensuring proper intracellular location of multiple lysosomal enzymes. Patients with MLIII gamma typically present with osteoarthritis and joint stiffness, suggesting cartilage involvement. Using Gnptg knockout ( Gnptg ko ) mice as a model of the human...
Includes: Supplementary data
Journal Articles
In collection:
Neurodegenerative Disorders
Daniel K. Borger, Benjamin McMahon, Tamanna Roshan Lal, Jenny Serra-Vinardell, Elma Aflaki, Ellen Sidransky
Journal:
Disease Models & Mechanisms
Dis Model Mech (2017) 10 (6): 691–704.
Published: 1 June 2017
... and pathophysiology of lysosomal storage diseases, and how iPSCs have illuminated the role of lysosomes in more common disorders. Gaucher disease IPSC models Lysosomal enzymes Lysosomal storage disorders Neurodegeneration There are over 50 types of lysosomal storage disease, a class of inherited...
