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
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
Acid Sphingomyelinase Regulates the Localization and Trafficking of Palmitoylated Proteins [PDF]
, 2019 In human, loss of Acid Sphingomeylinase (ASM/SMPD1) causes Niemann-Pick Disease, type A. ASM hydrolyzes sphingomyelins to produce ceramides but protein targets of ASM remain largely unclear. ...
Kim, Yongsoon +7 more
core +2 more sources
Linear cyclodextrin polymer prodrugs as novel yherapeutics for Niemann-Pick type C1 disorder [PDF]
, 2018 Niemann-Pick Type C1 disorder (NPC) is a rare lysosomal storage disease characterized by the accumulation of cholesterol in lysosomes. NPC has no FDA approved treatments yet, however 2-hydroxypropyl-β-cyclodextrin (HPβCD) has shown efficacy for treating ...
Aditya Kulkarni +8 more
core +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
core +3 more sources
A hopeful therapy for Niemann-Pick C diseases [PDF]
, 2017 Not abstract ...
Erickson, Robert P. +1 more
core +1 more source
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
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
doaj +1 more source