Results 11 to 20 of about 14,555 (206)

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

Frontiers in Physiology, 2017
Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct ...
Sandra Torres, Sandra Torres, Elisa Balboa, Silvana Zanlungo, Carlos Enrich, Carmen Garcia-Ruiz, Carmen Garcia-Ruiz, Carmen Garcia-Ruiz, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa   +10 more
doaj   +5 more sources

Priapism associated with Niemann-Pick disease in a 15-year-old boy

Indian Journal of Urology, 2011
A 15-year-old boy presented with priapism of 46 h duration. There was no known cause of priapism detected in him. During evaluation, biopsy of the lymph node and bone marrow aspiration detected patient to be having Niemann-Pick disease.
M V Krishna Shetty, M Udaya Kumar, T K Sen   +2 more
doaj   +2 more sources

Difficult diagnosis. Niemann - Pick disease, type C

Медицинский совет, 2014
Modern diagnostic capabilities and improved medical knowledge allow to detect more diseases that were previously considered extremely rare. Along with the achievements of the pharmaceutical industry, timely diagnosis and adequate therapy often save the ...
L. S. Namazova-baranova, A. K. Gevorkyan, N. D. Vashakmadze, L. S. Vysotskaya, A. M. Mamedyarov, T. V. Margieva   +5 more
doaj   +2 more sources

Cyclodextrin triggers MCOLN1-dependent endo-lysosome secretion in Niemann-Pick type C cells[S]

Journal of Lipid Research, 2019
In specialized cell types, lysosome-related organelles support regulated secretory pathways, whereas in nonspecialized cells, lysosomes can undergo fusion with the plasma membrane in response to a transient rise in cytosolic calcium. Recent evidence also
Fabrizio Vacca, Stefania Vossio, Vincent Mercier, Dimitri Moreau, Shem Johnson, Cameron C. Scott, Jonathan Paz Montoya, Marc Moniatte, Jean Gruenberg   +8 more
doaj   +2 more sources

Defective Autophagy, Mitochondrial Clearance and Lipophagy in Niemann-Pick Type B Lymphocytes. [PDF]

PLoS ONE, 2016
Niemann-Pick disease type A (NP-A) and type B (NP-B) are lysosomal storage diseases (LSDs) caused by sphingomyelin accumulation in lysosomes relying on reduced or absent acid sphingomyelinase.
Barbara Canonico, Erica Cesarini, Sara Salucci, Francesca Luchetti, Elisabetta Falcieri, Gianna Di Sario, Fulvio Palma, Stefano Papa   +7 more
doaj   +3 more sources

Chemical Proteomic Analysis of Serine Hydrolase Activity in Niemann-Pick Type C Mouse Brain [PDF]

Frontiers in Neuroscience, 2018
The endocannabinoid system (ECS) is considered to be an endogenous protective system in various neurodegenerative diseases. Niemann-Pick type C (NPC) is a neurodegenerative disease in which the role of the ECS has not been studied yet.
Eva J. van Rooden, Annelot C. M. van Esbroeck, Marc P. Baggelaar, Hui Deng, Bogdan I. Florea, André R. A. Marques, Roelof Ottenhoff, Rolf G. Boot, Herman S. Overkleeft, Johannes M. F. G. Aerts, Mario van der Stelt   +10 more
doaj   +4 more sources

A case of Niemann – Pick disease type C

Неврология, нейропсихиатрия, психосоматика, 2013
The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova   +2 more
doaj   +3 more sources

Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases

Orphanet Journal of Rare Diseases, 2018
Background Rare diseases are a global public health concern, affecting an estimated 350 million individuals. Only 5% of approximately 7000 known rare diseases have a treatment, and only about half have a patient advocacy organization.
Susan Stein, Elizabeth Bogard, Nicole Boice, Vivian Fernandez, Tessa Field, Alan Gilstrap, Susan R. Kahn, Jane Larkindale, Toni Mathieson   +8 more
doaj   +1 more source

The Influence of a Conjugated Pneumococcal Vaccination on Plasma Antibody Levels against Oxidized Low-Density Lipoprotein in Metabolic Disease Patients: A Single-Arm Pilot Clinical Trial

Antioxidants, 2021
As a mediator between lipid metabolism dysfunction, oxidative stress and inflammation, oxidized low-density lipoprotein (oxLDL) is a promising therapeutical target in a wide range of metabolic diseases.
Ronit Shiri-Sverdlov, Inês Magro dos Reis, Yvonne Oligschlaeger, Tim Hendrikx, Dennis M. Meesters, Annick Vanclooster, Nele Vanhoutvin, Ger H. Koek, Marit Westerterp, Christoph J. Binder, David Cassiman, Tom Houben   +11 more
doaj   +1 more source

A Cross-Disease Microglial Transcriptional Program Characterizes Neurodegeneration and Highlights SPP1 as a Biomarker. [PDF]

Glia
Distinct microglial subpopulations are depicted, highlighting variations in gene expression and functional roles in response to specific disease conditions and the complexity of microglial activation and differentiation in neurodegeneration. ABSTRACT Microglial cells are key players in maintaining brain homeostasis and responding to pathological ...
Palma A, Stefanelli R, Trenta F, Projetti C, Massa G, Canterini S, Fiorenza MT.   +6 more
europepmc   +2 more sources