Results 11 to 20 of about 7,315 (135)

Influence of Npc1 genotype on the toxicity of hydroxypropyl-β-cyclodextrin, a potentially therapeutic agent, in Niemann–Pick Type C disease models

Molecular Genetics and Metabolism Reports, 2014
Hydroxypropyl-β-cyclodextrin (HPBCD) is an attractive drug candidate against Niemann–Pick Type C (NPC) disease. However, the safety of HPBCD treatment for NPC patients remains to be elucidated.
Yuta Tanaka, Yoichi Ishitsuka, Yusei Yamada, Yuki Kondo, Toru Takeo, Naomi Nakagata, Taishi Higashi, Keiichi Motoyama, Hidetoshi Arima, Muneaki Matsuo, Katsumi Higaki, Kousaku Ohno, Tetsumi Irie   +12 more
doaj   +1 more source

Niemann-Pick C1 (NPC1)/NPC1-like1 Chimeras Define Sequences Critical for NPC1’s Function as a Filovirus Entry Receptor

Viruses, 2012
We recently demonstrated that Niemann-Pick C1 (NPC1), a ubiquitous 13-pass cellular membrane protein involved in lysosomal cholesterol transport, is a critical entry receptor for filoviruses.
Esther Ndungo, John M. Dye, Sean P. Whelan, Melinda Ng, Andrew S. Herbert, Anuja Krishnan, Emily Happy Miller, Kartik Chandran   +7 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

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

Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish[S]

Journal of Lipid Research, 2011
Niemann-Pick disease, type C (NP-C), often associated with Niemann-Pick disease, type C1 (NPC1) mu­tations, is a cholesterol-storage disorder characterized by cellular lipid accumulation, neurodegeneration, and reduced steroid production.
Tyler Schwend, Evyn J. Loucks, Diana Snyder, Sara C. Ahlgren   +3 more
doaj   +1 more source

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

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

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

An overview of the role of Niemann-pick C1 (NPC1) in viral infections and inhibition of viral infections through NPC1 inhibitor

Cell Communication and Signaling, 2023
Viruses communicate with their hosts through interactions with proteins, lipids, and carbohydrate moieties on the plasma membrane (PM), often resulting in viral absorption via receptor-mediated endocytosis.
Irfan Ahmad, Seyede Narges Fatemi, Mohammad Ghaheri, Ali Rezvani, Dorsa Azizi Khezri, Mohammad Natami, Saman Yasamineh, Omid Gholizadeh, Zahra Bahmanyar   +8 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