Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Mark L. Schultz"'
Autor:
Mark L. Schultz, Kylie J. Schache, Ruth D. Azaria, Esmée Q. Kuiper, Steven Erwood, Evgueni A. Ivakine, Nicole Y. Farhat, Forbes D. Porter, Koralege C. Pathmasiri, Stephanie M. Cologna, Michael D. Uhler, Andrew P. Lieberman
Publikováno v:
JCI Insight, Vol 7, Iss 23 (2022)
The folding and trafficking of transmembrane glycoproteins are essential for cellular homeostasis and are compromised in many diseases. In Niemann-Pick type C disease, a lysosomal disorder characterized by impaired intracellular cholesterol trafficki
Externí odkaz:
https://doaj.org/article/2bc188a944d2407a91abc2701d466d6c
Autor:
Mark L. Schultz, Maria V. Fawaz, Ruth D. Azaria, Todd C. Hollon, Elaine A. Liu, Thaddeus J. Kunkel, Troy A. Halseth, Kelsey L. Krus, Ran Ming, Emily E. Morin, Hayley S. McLoughlin, David D. Bushart, Henry L. Paulson, Vikram G. Shakkottai, Daniel A. Orringer, Anna S. Schwendeman, Andrew P. Lieberman
Publikováno v:
BMC Medicine, Vol 17, Iss 1, Pp 1-18 (2019)
Abstract Background Niemann–Pick disease type C is a fatal and progressive neurodegenerative disorder characterized by the accumulation of unesterified cholesterol in late endosomes and lysosomes. We sought to develop new therapeutics for this diso
Externí odkaz:
https://doaj.org/article/e83baffb0e3847bbafc88e3c4bd749f6
Autor:
Elaine A. Liu, Mark L. Schultz, Chisaki Mochida, Chan Chung, Henry L. Paulson, Andrew P. Lieberman
Publikováno v:
JCI Insight, Vol 5, Iss 20 (2020)
A critical response to lysosomal membrane permeabilization (LMP) is the clearance of damaged lysosomes through a selective form of macroautophagy known as lysophagy. Although regulators of this process are emerging, whether organ- and cell-specific c
Externí odkaz:
https://doaj.org/article/b5c73d3490504d16a8be2b8f9d1dda2a
Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD
Autor:
Mark L. Schultz, Kelsey L. Krus, Susmita Kaushik, Derek Dang, Ravi Chopra, Ling Qi, Vikram G. Shakkottai, Ana Maria Cuervo, Andrew P. Lieberman
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
Niemann-Pick type C1 disease is most commonly caused by the allele NPC1 I1061T, which is misfolded in the ER and rapidly degraded by the ubiquitin proteasome system. Here the authors show that the I1061T mutant is also degraded by ER-phagy.
Externí odkaz:
https://doaj.org/article/fa59083b03654256906367e10286935a
Autor:
Mark L. Schultz, Luis Tecedor, Elena Lysenko, Shyam Ramachandran, Colleen S. Stein, Beverly L. Davidson
Publikováno v:
Neurobiology of Disease, Vol 115, Iss , Pp 182-193 (2018)
The neuronal ceroid lipofuscinoses are a class of inherited neurodegenerative diseases characterized by the accumulation of autofluorescent storage material. The most common neuronal ceroid lipofuscinosis has juvenile onset with rapid onset blindness
Externí odkaz:
https://doaj.org/article/c48cb5e8a4034f12bbd404314a8c562a
Autor:
Chisaki Mochida, Henry L. Paulson, Andrew P. Lieberman, Elaine A Liu, Mark L. Schultz, Chan Chung
Publikováno v:
JCI Insight, Vol 5, Iss 20 (2020)
JCI Insight
JCI Insight
A critical response to lysosomal membrane permeabilization (LMP) is the clearance of damaged lysosomes through a selective form of macroautophagy known as lysophagy. Although regulators of this process are emerging, whether organ- and cell-specific c
Autor:
Todd C. Hollon, Hayley S. McLoughlin, Elaine A Liu, Thaddeus J. Kunkel, Anna Schwendeman, Daniel A. Orringer, Maria V. Fawaz, David D. Bushart, Ruth D. Azaria, Kelsey L. Krus, Henry L. Paulson, Troy Halseth, Emily E. Morin, Vikram G. Shakkottai, Mark L. Schultz, Ran Ming, Andrew P. Lieberman
Publikováno v:
BMC Medicine
BMC Medicine, Vol 17, Iss 1, Pp 1-18 (2019)
BMC Medicine, Vol 17, Iss 1, Pp 1-18 (2019)
BackgroundNiemann–Pick disease type C is a fatal and progressive neurodegenerative disorder characterized by the accumulation of unesterified cholesterol in late endosomes and lysosomes. We sought to develop new therapeutics for this disorder by ha
Autor:
Peter J. Hand, Samantha J. Fisher, Jessica H. Bagel, Gary P. Swain, Andrew P. Lieberman, Brittney L. Gurda, Charles H. Vite, Mark L. Schultz
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 77:229-245
The feline model of Niemann-Pick disease, type C1 (NPC1) recapitulates the clinical, neuropathological, and biochemical abnormalities present in children with NPC1. The hallmarks of disease are the lysosomal storage of unesterified cholesterol and mu
Autor:
Nihal Altan-Bonnet, Hayley S. McLoughlin, Michael Schlame, Kirill Gorshkov, Wei Zheng, Ruth D. Azaria, Kimberly Lai, Yang Xu, Thaddeus J. Kunkel, Miriam Waghalter, Mark L. Schultz, Andrew P. Lieberman, Judith Storch, Maciej Jeziorek, Radek Dobrowolski, Bruce Nguyen Tran, Olga Ilnytska
Publikováno v:
The Journal of Biological Chemistry
Niemann–Pick C (NPC) is an autosomal recessive disorder characterized by mutations in the NPC1 or NPC2 genes encoding endolysosomal lipid transport proteins, leading to cholesterol accumulation and autophagy dysfunction. We have previously shown th
Publikováno v:
Brain Research. 1649:181-188
Lysosomal storage diseases result from inherited deficiencies of lysosomal hydrolytic activities or lipid transport. Collectively, these disorders are a common cause of morbidity in the pediatric population and are often associated with severe neurod