Results 31 to 40 of about 13,156 (213)

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

Orphanet Journal of Rare Diseases, 2020
Background Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or the NPC2 gene. NPC1 is a multipass-transmembrane protein essential for egress of cholesterol from late endosomes/lysosomes.
Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier, Martin Hrebicek   +16 more
doaj   +1 more source

Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease

Journal of Lipid Research, 2022
Niemann-Pick type C1 (NPC1) disease is a progressive lysosomal storage disorder caused by mutations of the NPC1 gene. While neurodegeneration is the most severe symptom, a large proportion of NPC1 patients also present with splenomegaly, which has been ...
Anouk G. Groenen, Anouk M. La Rose, Mengying Li, Venetia Bazioti, Arthur F. Svendsen, Niels J. Kloosterhuis, Albertina Ausema, Alle Pranger, M. Rebecca Heiner-Fokkema, Klary E. Niezen-Koning, Tom Houben, Ronit Shiri-Sverdlov, Marit Westerterp   +12 more
doaj   +1 more source

Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]

, 2019
A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi, Haberkant, Per, Schmid, Ralf, Sillence, Daniel J., Tongue, Paige, Wheeler, S.   +5 more
core   +1 more source

Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice [PDF]

Proceedings of the National Academy of Sciences, 2011
Substitution mutations in adjacent amino acids of the N-terminal domain of NPC1, a lysosomal membrane protein, abolish its cholesterol binding activity and impair its ability to export cholesterol from lysosomes of cultured cells lacking npc1 [Kwon HJ, et al. (2009) Cell 137:1213–1224]. Here,
Xuefen, Xie, Michael S, Brown, John M, Shelton, James A, Richardson, Joseph L, Goldstein, Guosheng, Liang   +5 more
openaire   +2 more sources

A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1

BMC Biology, 2021
Background Niemann-Pick disease, type C (NPC) is a childhood-onset, lethal, neurodegenerative disorder caused by autosomal recessive mutations in the genes NPC1 or NPC2 and characterized by impaired cholesterol homeostasis, a lipid essential for cellular
Anika V. Prabhu, Insung Kang, Raffaella De Pace, Christopher A. Wassif, Hideji Fujiwara, Pamela Kell, Xuntian Jiang, Daniel S. Ory, Juan S. Bonifacino, Michael E. Ward, Forbes D. Porter   +10 more
doaj   +1 more source

Linear cyclodextrin polymer prodrugs as novel yherapeutics for Niemann-Pick type C1 disorder [PDF]

, 2018
Niemann-Pick Type C1 disorder (NPC) is a rare lysosomal storage disease characterized by the accumulation of cholesterol in lysosomes. NPC has no FDA approved treatments yet, however 2-hydroxypropyl-β-cyclodextrin (HPβCD) has shown efficacy for treating ...
Aditya Kulkarni, Alberto Macone, Atul Dolas, Jessica Dragotto, Maria Teresa Fiorenza, Paola Caporali, Ramesh Jayaraman, Sandeep Goyal, Soniya Johny   +8 more
core   +1 more source

The Niemann-Pick C1 protein in recycling endosomes of presynaptic nerve terminals

Journal of Lipid Research, 2006
Niemann-Pick type C (NPC) disease is a fatal, neurodegenerative disorder caused in 95% of cases by loss of function of NPC1, a ubiquitous endosomal transmembrane protein.
Barbara Karten, Robert B. Campenot, Dennis E. Vance, Jean E. Vance   +3 more
doaj   +1 more source

How NPC1 Loss Twists the TORCque of Lysosomes [PDF]

Developmental Cell, 2021
Niemann-Pick type C is a neurological disorder caused by mutations in the lysosome cholesterol exporter NPC1. In this issue of Developmental Cell, Davis et al. dissect how NPC1 loss elevates mTORC1 signaling, and demonstrate that suppression of mTORC1 signaling can rescue disease pathology in NPC1-deficient cell models.
openaire   +2 more sources

Niemann-Pick C1 Is Essential for Ebolavirus Replication and Pathogenesis In Vivo

mBio, 2015
Recent work demonstrated that the Niemann-Pick C1 (NPC1) protein is an essential entry receptor for filoviruses. While previous studies focused on filovirus entry requirements of NPC1 in vitro, its roles in filovirus replication and pathogenesis in vivo ...
Andrew S. Herbert, Cristin Davidson, Ana I. Kuehne, Russell Bakken, Stephen Z. Braigen, Kathryn E. Gunn, Sean P. Whelan, Thijn R. Brummelkamp, Nancy A. Twenhafel, Kartik Chandran, Steven U. Walkley, John M. Dye   +11 more
doaj   +1 more source

Disruption in connexin-based communication is associated with intracellular Ca²⁺ signal alterations in astrocytes from Niemann-Pick type C mice. [PDF]

PLoS ONE, 2013
Reduced astrocytic gap junctional communication and enhanced hemichannel activity were recently shown to increase astroglial and neuronal vulnerability to neuroinflammation.
Pablo J Sáez, Juan A Orellana, Natalia Vega-Riveros, Vania A Figueroa, Diego E Hernández, Juan F Castro, Andrés D Klein, Jean X Jiang, Silvana Zanlungo, Juan C Sáez   +9 more
doaj   +1 more source