Orphanet Journal of Rare Diseases, 2020 Background Niemann-Pick disease Type C (NP-C) is a rare, progressive neurodegenerative disorder characterized by progressive neurodegeneration and premature death.
M. Patterson +5 more
semanticscholar +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
Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations [PDF]
, 2016 PURPOSE: Predicting the phenotypic effects of mutations has become an important application in clinical genetic diagnostics. Computational tools evaluate the behavior of the variant over evolutionary time and assume that variations seen during the course
Alexander O. Reznik +43 more
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Niemann Pick disease: a rare lysosomal storage disease
Bangabandhu Sheikh Mujib Medical University Journal, 2023 Niemann Pick Disease (NPD) is a rare autosomal recessive lysosomal storage disease characterized by lysosomal lipid storage. The disease is caused by deficiency of enzyme, acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other ...
Gopen Kumar Kundu +8 more
doaj +1 more source
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
Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2023 Introduction. Niemann–Pick disease type B is an autosomal recessive disease caused by sphingomyelinase deficiency resulting in sphingomyelin accumulation in macrophages of various organs. Visceral involvement includes spleen enlargement, thrombocytopenia,
Agić Danijela +4 more
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Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]
, 2017 The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia +7 more
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Bidirectional links between Alzheimer's disease and Niemann-Pick type C disease [PDF]
, 2014 Alzheimer's disease (AD) and Niemann-Pick type C (NPC) disease are progressive neurodegenerative diseases with very different epidemiology and etiology.
Hećimović, Silva +3 more
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Perturbed cholesterol and vesicular trafficking associated with dengue blocking in Wolbachia-infected Aedes aegypti cells [PDF]
, 2017 Wolbachia are intracellular maternally inherited bacteria that can spread through insect populations and block virus transmission by mosquitoes, providing an important approach to dengue control.
Ant, Thomas H. +9 more
core +3 more sources
Ezetimibe therapy: mechanism of action and clinical update. [PDF]
, 2012 The lowering of low-density lipoprotein cholesterol (LDL-C) is the primary target of therapy in the primary and secondary prevention of cardiovascular events.
Dayspring, Thomas D +2 more
core +1 more source