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 +3 more
doaj +2 more sources
A hopeful therapy for Niemann-Pick C diseases [PDF]
Lancet, The, 2017 Not abstract ...
Erickson, Robert P. +1 more
core +3 more sources
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 +7 more
doaj +3 more sources
Plasma phosphorylated-tau217 is increased in Niemann-Pick disease type C. [PDF]
Brain CommunNiemann–Pick disease type C and Alzheimer’s disease are distinct neurodegenerative disorders that share the presence of neurofibrillary tangle pathology.
Gonzalez-Ortiz F +7 more
europepmc +4 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. +8 more
core +4 more sources
Tonic prime-boost of STING signalling mediates Niemann-Pick disease type C. [PDF]
Nature, 2021 Chu TT +5 more
europepmc +2 more sources
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. [PDF]
PLoS ONE, 2017 The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in ...
Magali Pettazzoni +12 more
doaj +1 more source
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 +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 +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 +5 more
core +1 more source