Results 11 to 20 of about 25,991 (220)

Bidirectional links between Alzheimer's disease and Niemann–Pick type C disease [PDF]

Neurobiology of Disease, 2014
Alzheimer's disease (AD) and Niemann–Pick type C (NPC) disease are progressive neurodegenerative diseases with very different epidemiology and etiology.
Martina Malnar, Silva Hecimovic, Niklas Mattsson, Henrik Zetterberg   +3 more
doaj   +2 more sources

A hopeful therapy for Niemann-Pick C diseases [PDF]

Lancet, The, 2017
Not abstract ...
Erickson, Robert P., Fiorenza, Maria Teresa   +1 more
core   +3 more sources

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

EBioMedicine, 2016
Niemann Pick type C (NP-C) is a rare neurodegenerative disorder caused by an impairment of intracellular lipid transport. Due to the heterogeneous clinical phenotype and the lack of a reliable blood test, diagnosis and therapy are often delayed for years.
Janine Reunert, Manfred Fobker, Frank Kannenberg, Ingrid Du Chesne, Maria Plate, Judith Wellhausen, Stephan Rust, Thorsten Marquardt   +7 more
doaj   +3 more sources

Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK [PDF]

Autophagy, 2017
Austin, Christopher P., Dai, Sheng, Dulcey, Andres E., Hu, Xin, Marugan, Juan, Ory, Daniel S., Porter, Forbes D., Wassif, Christopher A., Zheng, Wei   +8 more
core   +4 more sources

Plasma phosphorylated-tau217 is increased in Niemann-Pick disease type C. [PDF]

Brain Commun
Niemann–Pick disease type C and Alzheimer’s disease are distinct neurodegenerative disorders that share the presence of neurofibrillary tangle pathology.
Gonzalez-Ortiz F, Karikari TK, Taylor-Te Vruchte D, Shepherd D, Kirsebom BE, Fladby T, Platt F, Blennow K.   +7 more
europepmc   +4 more sources

Tonic prime-boost of STING signalling mediates Niemann-Pick disease type C. [PDF]

Nature, 2021
Chu TT, Tu X, Yang K, Wu J, Repa JJ, Yan N.   +5 more
europepmc   +2 more sources

Molecular basis for a new bovine model of Niemann-Pick type C disease.

PLoS ONE, 2020
Niemann-Pick type C disease is a lysosomal storage disease affecting primarily the nervous system that results in premature death. Here we present the first report and investigation of Niemann-Pick type C disease in Australian Angus/Angus-cross calves ...
Shernae A Woolley, Emily R Tsimnadis, Cor Lenghaus, Peter J Healy, Keith Walker, Andrew Morton, Mehar S Khatkar, Annette Elliott, Ecem Kaya, Clarisse Hoerner, David A Priestman, Dawn Shepherd, Frances M Platt, Ben T Porebski, Cali E Willet, Brendon A O'Rourke, Imke Tammen   +16 more
doaj   +1 more source

Estimated prevalence of Niemann–Pick type C disease in Quebec

Scientific Reports, 2021
Niemann–Pick type C (NP-C) disease is an autosomal recessive disease caused by variants in the NPC1 or NPC2 genes. It has a large range of symptoms depending on age of onset, thus making it difficult to diagnose.
Marjorie Labrecque, Lahoud Touma, Claude Bhérer, Antoine Duquette, Martine Tétreault   +4 more
doaj   +1 more source

Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]

, 2019
A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi, Haberkant, Per, Schmid, Ralf, Sillence, Daniel J., Tongue, Paige, Wheeler, S.   +5 more
core   +1 more source

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   +1 more source