Niemann-Pick disease type C symptomatology: an expert-based clinical description

E Mengel, HH Klünemann, CM Lourenço… - Orphanet journal of rare …, 2013 - Springer
Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to
disabling neurological manifestations and premature death. The estimated disease …

[HTML][HTML] Direct and indirect cholesterol effects on membrane proteins with special focus on potassium channels

F Zakany, T Kovacs, G Panyi, Z Varga - … BBA)-Molecular and Cell Biology of …, 2020 - Elsevier
As described in the literature the interaction between cholesterol and membrane proteins
can occur via direct, ligand-like and indirect mechanisms, in which cholesterol effects are …

Closed-state inactivation and pore-blocker modulation mechanisms of human CaV2. 2

Y Dong, Y Gao, S Xu, Y Wang, Z Yu, Y Li, B Li, T Yuan… - Cell reports, 2021 - cell.com
N-type voltage-gated calcium (Ca V) channels mediate Ca 2+ influx at presynaptic terminals
in response to action potentials and play vital roles in synaptogenesis, release of …

Cyclodextrins and iatrogenic hearing loss: new drugs with significant risk

MA Crumling, KA King, RK Duncan - Frontiers in cellular …, 2017 - frontiersin.org
Cyclodextrins are a family of cyclic oligosaccharides with widespread usage in medicine,
industry and basic sciences owing to their ability to solubilize and stabilize guest …

Molecular insights into the gating mechanisms of voltage-gated calcium channel CaV2.3

Y Gao, S Xu, X Cui, H Xu, Y Qiu, Y Wei, Y Dong… - Nature …, 2023 - nature.com
High-voltage-activated R-type CaV2. 3 channel plays pivotal roles in many physiological
activities and is implicated in epilepsy, convulsions, and other neurodevelopmental …

Hearing loss and hair cell death in mice given the cholesterol-chelating agent hydroxypropyl-β-cyclodextrin

MA Crumling, L Liu, PV Thomas, J Benson, A Kanicki… - PloS one, 2012 - journals.plos.org
Cyclodextrins are sugar compounds that are increasingly finding medicinal uses due to their
ability to complex with hydrophobic molecules. One cyclodextrin in particular, 2 …

[HTML][HTML] Molecular interaction and functional coupling between type 3 inositol 1, 4, 5-trisphosphate receptor and BKCa channel stimulate breast cancer cell …

A Mound, L Rodat-Despoix, S Bougarn… - European journal of …, 2013 - Elsevier
Background The implication of ion channels and inositol 1, 4, 5-trisphosphate (IP 3)-induced
Ca 2+ signalling (IICS) in the carcinogenesis processes, including deregulation of cell …

[HTML][HTML] Depletion of membrane cholesterol modifies structure, dynamic and activation of Nav1. 7

S Albani, VSB Eswaran, A Piergentili… - International Journal of …, 2024 - Elsevier
Cholesterol is a major component of plasma membranes and plays a significant role in
actively regulating the functioning of several membrane proteins in humans. In this study, we …

Effects of cholesterol on nano-mechanical properties of the living cell plasma membrane

N Khatibzadeh, S Gupta, B Farrell, WE Brownell… - Soft Matter, 2012 - pubs.rsc.org
In this study, we investigated the effects of membrane cholesterol content on the mechanical
properties of cell membranes by using optical tweezers. We pulled membrane tethers from …

Niemann-Pick type C disease reveals a link between lysosomal cholesterol and PtdIns (4, 5) P2 that regulates neuronal excitability

O Vivas, SA Tiscione, RE Dixon, DS Ory, EJ Dickson - Cell reports, 2019 - cell.com
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 …