Results 61 to 70 of about 13,156 (213)

Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability. [PDF]

, 2019
There is increasing evidence that the lysosome is involved in the pathogenesis of a variety of neurodegenerative disorders. Thus, mechanisms that link lysosome dysfunction to the disruption of neuronal homeostasis offer opportunities to understand the ...
Dickson, Eamonn J, Dixon, Rose E, Ory, Daniel S, Tiscione, Scott A, Vivas, Oscar   +4 more
core   +2 more sources

Magnetic Supraparticles as Identifiers in Single‐Layer Lithium‐Ion Battery Pouch Cells

ChemSusChem, Volume 18, Issue 6, March 15, 2025.
As an alternative to externally applied optical identifiers, magnetic supraparticles (SPs) can be used for contactless identification of lithium‐ion battery pouch cells via magnetic particle spectroscopy. This study validated the integration and detection of magnetic markers in three model scenarios.
Sara Li Deuso, Simon Ziegler, Daniel Weber, Felix Breuer, Daniel Haddad, Stephan Müssig, Andreas Flegler, Guinevere A. Giffin, Karl Mandel   +8 more
wiley   +1 more source

Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells

Journal of Lipid Research, 2017
Niemann-Pick C (NPC) disease is an autosomal recessive disorder that leads to excessive storage of cholesterol and other lipids in late endosomes and lysosomes.
Nina H. Pipalia, Kanagaraj Subramanian, Shu Mao, Harold Ralph, Darren M. Hutt, Samantha M. Scott, William E. Balch, Frederick R. Maxfield   +7 more
doaj   +1 more source

PKC activation in Niemann pick C1 cells restores subcellular cholesterol transport. [PDF]

PLoS ONE, 2013
Activation of protein kinase C (PKC) has previously been shown to ameliorate the cholesterol transport defect in Niemann Pick Type C1 (NPC1) cells, presumably by increasing the soluble levels of one of its substrates, vimentin.
Farshad Tamari, Fannie W Chen, Chunlei Li, Jagrutiben Chaudhari, Yiannis A Ioannou   +4 more
doaj   +1 more source

Reducing GBA2 activity ameliorates neuropathology in niemann-pick type C mice [PDF]

, 2015
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly reduced GBA activity is associated with severe manifestations of Gaucher disease including neurological involvement.
Aerts, J.M.F.G. (Johannes), Aten, J. (Jan), Boot, R.G. (Rolf), Claessen, N. (Nike), Herrera Moro, D. (Daniela), Lin, Z. (Zhanmin), Marques, A.R.A. (André), Mirzaian, M. (Mina), Ottenhoff, R. (Roelof), Overkleeft, H.S. (Herman), Roomen, C.P.A.A. (Cindy) van, Vinueza Veloz, M.F. (Maria), Yildiz, Y. (Yildiz), Zeeuw, C.I. (Chris) de, Zhou, K. (Kuikui)   +14 more
core   +7 more sources

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, EarlyView.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1

Journal of Lipid Research
Lysosomal function is impaired in Niemann-Pick disease type C1 (NPC1), a rare and inherited neurodegenerative disorder, resulting in late endosomal/lysosomal accumulation of unesterified cholesterol.
Sonali Mishra, Pamela Kell, David Scherrer, Dennis J. Dietzen, Charles H. Vite, Elizabeth Berry-Kravis, Cristin Davidson, Stephanie M. Cologna, Forbes D. Porter, Daniel S. Ory, Xuntian Jiang   +10 more
doaj   +1 more source

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease [PDF]

, 2015
Background Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules. They occur at a frequency of about 1 in 5,000 live births,
Cortina-Borja, Mario, Eichler, Sabrina, Eisa, Nada Al, Giese, Anne-Katrin, Grittner, Ulrike, Kramp, Guido, Lukas, Jan, Mascher, Hermann, Platt, Frances M., Porter, Forbes D., Rolfs, Arndt, Vruchte, Danielle te   +11 more
core   +2 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C [version 1; peer review: 2 approved]

Wellcome Open Research, 2022
Background:  Blockade of tumour necrosis factor (anti-TNF) is effective in patients with Crohn’s Disease but has been associated with infection risk and neurological complications such as demyelination.
David Smith, Nada Al Eisa, Isabelle Williams, Wolfram Haller, Sumeet Pandey, Alicia Chan, Hien Quoc Huynh, Holm H. Uhlig, Ruth Bettels, Gesche Düeker, Chinenye R. Dike, Laurent Peyrin-Biroulet, Thorsten Marquardt, Catherine DeGeeter, Frances M. Platt, Nick Platt, Tobias Schwerd   +16 more
doaj   +1 more source