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Stuart Kornfeld

Showing results (41-50 of 61) with videos related to

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Biology Open|September 26, 2015
The lysosomal enzyme receptor protein (LERP) is not essential, but is implicated in lysosomal function in Drosophila melanogasterMedina Hasanagic, Eline van Meel, Shan Luan, et al.
The Journal of Biological Chemistry|December 16, 2014
Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognitionYi Qian, Eline van Meel, Heather Flanagan-Steet, et al.
The Journal of Biological Chemistry|February 3, 2016
Multiple Domains of GlcNAc-1-phosphotransferase Mediate Recognition of Lysosomal EnzymesEline van Meel, Wang-Sik Lee, Lin Liu, et al.
Molecular Biology of the Cell|February 12, 2025
LYSET facilitates integration of both the N- and C-terminal transmembrane helices/cytoplasmic domains of GlcNAc-1-phosphotransferaseBaraj Doray, Benjamin C Jennings, Xi Yang, et al.
The Journal of Biological Chemistry|August 23, 2024
Structure of a truncated human GlcNAc-1-phosphotransferase variant reveals the basis for its hyperactivityHua Li, Balraj Doray, Benjamin C Jennings, et al.
Traffic (Copenhagen, Denmark)|April 7, 2011
Disruption of the Man-6-P targeting pathway in mice impairs osteoclast secretory lysosome biogenesisEline van Meel, Marielle Boonen, Haibo Zhao, et al.
American Journal of Medical Genetics. Part A|January 6, 2005
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathyRichard A Steet, Roger Hullin, Mariko Kudo, et al.
The Journal of Biological Chemistry|December 4, 2009
Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferaseYi Qian, Intaek Lee, Wang-Sik Lee, et al.
Plos One|October 15, 2014
Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γRachel A Idol, David F Wozniak, Hideji Fujiwara, et al.
Investigative Ophthalmology & Visual Science|October 27, 2007
Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesionsClaire M Gelfman, Peter Vogel, Tawfik M Issa, et al.
Pageof 7

Showing results (41-50 of 61) with videos related to

Sort By:
Pageof 7
Biology Open|September 26, 2015
The lysosomal enzyme receptor protein (LERP) is not essential, but is implicated in lysosomal function in Drosophila melanogasterMedina Hasanagic, Eline van Meel, Shan Luan, et al.
The Journal of Biological Chemistry|December 16, 2014
Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognitionYi Qian, Eline van Meel, Heather Flanagan-Steet, et al.
The Journal of Biological Chemistry|February 3, 2016
Multiple Domains of GlcNAc-1-phosphotransferase Mediate Recognition of Lysosomal EnzymesEline van Meel, Wang-Sik Lee, Lin Liu, et al.
Molecular Biology of the Cell|February 12, 2025
LYSET facilitates integration of both the N- and C-terminal transmembrane helices/cytoplasmic domains of GlcNAc-1-phosphotransferaseBaraj Doray, Benjamin C Jennings, Xi Yang, et al.
The Journal of Biological Chemistry|August 23, 2024
Structure of a truncated human GlcNAc-1-phosphotransferase variant reveals the basis for its hyperactivityHua Li, Balraj Doray, Benjamin C Jennings, et al.
Traffic (Copenhagen, Denmark)|April 7, 2011
Disruption of the Man-6-P targeting pathway in mice impairs osteoclast secretory lysosome biogenesisEline van Meel, Marielle Boonen, Haibo Zhao, et al.
American Journal of Medical Genetics. Part A|January 6, 2005
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathyRichard A Steet, Roger Hullin, Mariko Kudo, et al.
The Journal of Biological Chemistry|December 4, 2009
Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferaseYi Qian, Intaek Lee, Wang-Sik Lee, et al.
Plos One|October 15, 2014
Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γRachel A Idol, David F Wozniak, Hideji Fujiwara, et al.
Investigative Ophthalmology & Visual Science|October 27, 2007
Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesionsClaire M Gelfman, Peter Vogel, Tawfik M Issa, et al.
Pageof 7