Results 71 to 80 of about 13,156 (213)

Du nouveau dans l’absorption intestinale du cholestérol : NPC1-L1 [PDF]

médecine/sciences, 2004
636 des produits de sante. Paris: AFSSAPS, 2001. 2. Evans WE, Relling MV. Pharmacogenomics : translating functional genomics into rational therapeutics. Science 1999 ; 286 : 487-91. 3. Oscarson M. Pharmacogenetics of drug metabolising enzymes : importance for personalised medecine. Clin Chem Lab Med 2003; 41 : 573-80. 4.
Lambert, Gilles, Chetiveaux, Maud, Sénard, Gaylord, Drui, Delphine, Krempf, Michel   +4 more
openaire   +2 more sources

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1 [version 2; peer review: 2 approved]

Wellcome Open Research, 2023
Background: Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal storage disorder characterized by the accumulation of multiple lipids in the late endosome/lysosomal system and reduced acidic store calcium.
David A Smith, Elena-Raluca Nicoli, Oscar C W Chen, Alexandria Colaco, Stephan Siebel, Stephanie Newman, Dawn Shepherd, Nicole Y Farhat, Andrew E Armitage, Claire Smith, George Seligmann, Mylvaganam Jeyakumar, Alaa Abdul-Sada, Forbes D Porter, Hal Drakesmith, Frances M Platt, Nick Platt   +16 more
doaj   +1 more source

Miglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease [PDF]

, 2016
Niemann-Pick type C disease is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endolysosomal compartment of cells and accumulation of gangliosides and other sphingolipids ...
Cardinale, A, Cutarelli, A, D'Arcangelo, G, Frank, C, Grossi, D, Merlo, D, Racaniello, M, Rufini, S, Tancredi, V, Zaratti, A   +9 more
core   +4 more sources

Intercompartmental communication in senescence

FEBS Open Bio, Volume 16, Issue 5, Page 837-856, May 2026.
Senescent cells experience structural changes in the plasma membrane, endoplasmic reticulum, mitochondria, lysosomes, nucleus, and cytoskeleton. These alterations disrupt crosstalk among cellular compartments, impairing vesicular trafficking, contact sites, and molecular flow.
Krystyna Mazan‐Mamczarz, Eleanor J. Wind, Jixiang Leng, Myriam Gorospe   +3 more
wiley   +1 more source

Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway [PDF]

, 2016
Background. Tuberculosis remains a major global health concern. The ability to prevent phagosome-lysosome fusion is a key mechanism by which intracellular mycobacteria, including Mycobacterium tuberculosis, achieve long-term persistence within host cells.
A Morgan, A Pandey, C Chen, C Davidson, C Pacheco, C Ramirez, C Settembre, C Varela, D Bowdish, D Dao, D Höglinger, D Neville, D Russell, D Russell, D Sleat, D te Vruchte, E Lloyd-Evans, E Lloyd-Evans, E Millard, F Camargo, F Chen, F Lu, F Platt, F Stein, G Besra, I Vergne, I Vergne, J Armstrong, J Bilmen, J Carette, J Davies, J Gray, J Indrigo, J Verschoor, J Wraith, J Wu, K Tahlan, K Takayama, M Beukes, M Katti, M Kim, M Majeed, M Patterson, M Patterson, M Pineda, M Tsai, M Vanier, M Vanier, N Lack, P Domenech, P Fineran, P Peyron, P Woodruff, R Hunter, R Infante, R Jayachandran, R Lachmann, R Lang, S Axelrod, S Naureckiene, S Sturgill-Koszycki, S Zimmerli, T Evans, T Schwerd, V Rao, V Stein, W Beatty, W Lee, X Gong, X He, X Li, Y Benadie, Y Fujita, Z Malik   +73 more
core   +3 more sources

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Cholesterol Accumulation in NPC1-Deficient Neurons Is Ganglioside Dependent [PDF]

Current Biology, 2003
Niemann-Pick type C (NPC) disease is a lysosomal disorder commonly caused by a recessive mutation in NPC1, which encodes an integral membrane protein with regions of homology to the morphogen receptor, Patched, and to 3-hydroxy-3-methylglutaryl coenzyme A reductase.
Gondré-Lewis, Marjorie C., McGlynn, Robert, Walkley, Steven U.   +2 more
openaire   +2 more sources

The role of the Niemann-Pick disease, type C1 protein in adipocyte insulin action. [PDF]

PLoS ONE, 2014
The Niemann-Pick disease, type C1 (NPC1) gene encodes a transmembrane protein involved in cholesterol efflux from the lysosome. SNPs within NPC1 have been associated with obesity and type 2 diabetes, and mice heterozygous or null for NPC1 are insulin ...
Rachael Fletcher, Christopher Gribben, Xiuquan Ma, James G Burchfield, Kristen C Thomas, James R Krycer, David E James, Daniel J Fazakerley   +7 more
doaj   +1 more source

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study [PDF]

, 2017
Additional file 1.
Carmen Dominguez, Isabel De Castro-Orós, Jorge Javier Cebolla, María Jesús Pueyo, Miguel Mallén, Miguel Pocoví, null null, Pilar Irún, Pilar Mozas, Victor Rodriguez-Sureda   +9 more
core   +3 more sources

The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts*

Journal of Lipid Research, 2008
The Niemann-Pick C1 (NPC1) protein regulates the transport of cholesterol from late endosomes/lysosomes to other compartments responsible for maintaining intracellular cholesterol homeostasis.
William S. Garver, David Jelinek, Gordon A. Francis, Bruce D. Murphy   +3 more
doaj   +1 more source