Ordered Assembly of Tau Protein and Neurodegeneration.
Sign Up to like & getrecommendations! Published in 2019 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-981-32-9358-8_1
Abstract: Tau filaments with distinct morphologies and/or isoform compositions underlie a large number of human neurodegenerative diseases. Their formation is important, because dominantly inherited mutations in MAPT, the tau gene, cause frontotemporal dementia with abundant filamentous… read more here.
Keywords: tau; amino acids; tau filaments; disease ... See more keywords
Niemann-Pick disease type C in the newborn period: a single-center experience
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-017-3020-y
Abstract: AbstractNiemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the newborn period between… read more here.
Keywords: npc; period; newborn period; pick disease ... See more keywords
Long-Term Neuropsychological Outcomes from an Open-Label Phase I/IIa Trial of 2-Hydroxypropyl-β-Cyclodextrins (VTS-270) in Niemann-Pick Disease, Type C1
Sign Up to like & getrecommendations! Published in 2019 at "CNS Drugs"
DOI: 10.1007/s40263-019-00642-2
Abstract: BackgroundNiemann-Pick disease, type C1 (NPC1) is a neurodegenerative condition that arises from mutations of NPC1 and is often diagnosed in children. Recently, several drug trials have been implemented to minimize neurodegeneration, including a trial of… read more here.
Keywords: hydroxypropyl; disease; vts 270; type ... See more keywords
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population.
Sign Up to like & getrecommendations! Published in 2019 at "Annals of hepatology"
DOI: 10.1016/j.aohep.2018.12.004
Abstract: INTRODUCTION AND AIM Niemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4-0.6/100,000. They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1.… read more here.
Keywords: variant; carrier; pick disease; niemann pick ... See more keywords
Beneficial effects of primidone in Niemann-Pick disease type C (NPC)-model cells and mice: Reduction of unesterified cholesterol levels in cells and extension of lifespan in mice.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of pharmacology"
DOI: 10.1016/j.ejphar.2021.173907
Abstract: Niemann-Pick disease type C (NPC) is caused by a loss of function of either NPC1 or NPC2 protein, resulting in the accumulation of unesterified, free-cholesterol (free-C) in cells/tissues and thus leading to cell/tissue damage. In… read more here.
Keywords: npc1 null; type npc; cholesterol; pick disease ... See more keywords
Recent advances in the treatment of niemann pick disease type c: a mini-review.
Sign Up to like & getrecommendations! Published in 2020 at "International journal of pharmaceutics"
DOI: 10.1016/j.ijpharm.2020.119440
Abstract: Niemann Pick disease Type C (NPC) is a recessive rare disease caused by the mutation on NPC1 and/or NPC2 genes changing the processing of the Low-density proteins (LDL) resulting in an accumulation of lipids in… read more here.
Keywords: treatment; disease; pick disease; disease type ... See more keywords
Niemann-Pick disease, type C and Roscoe Brady.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2016.11.008
Abstract: The Niemann-Pick family of diseases was poorly understood until Roscoe Brady and his colleagues began their investigations in the 1960s. Following Brady's discovery of the defect in acid sphingomyelinase in Niemann-Pick disease, types A and… read more here.
Keywords: roscoe brady; disease; pick disease; disease type ... See more keywords
Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2021.11.005
Abstract: Niemann-Pick C disease (NPC) is a lysosomal disease caused by mutations in NPC1 or NPC2 genes responsible for intracellular accumulation of free cholesterol and glycosphingolipids in a variety of tissues. We collected plasma samples from… read more here.
Keywords: lipidomic analysis; analysis; disease; comprehensive targeted ... See more keywords
Three-Dimensional Imaging of Whole-Body Zebrafish Revealed Lipid Disorders Associated with Niemann-Pick Disease Type C1.
Sign Up to like & getrecommendations! Published in 2021 at "Analytical chemistry"
DOI: 10.1021/acs.analchem.1c00196
Abstract: Imaging of lipids of whole-body specimens in two-dimensional (2D) analysis provides a global picture of the lipid changes in lipid-disturbed diseases, enabling a better understanding of lipid functions and lipid-modulation processes in different organs. However,… read more here.
Keywords: three dimensional; body zebrafish; whole body; pick disease ... See more keywords
Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-00898-7
Abstract: Niemann-Pick disease type C (NP-C) (OMIM#257220) is a rare lysosomal storage disorder caused by pathogenic variants in either the NPC1 or NPC2 genes. It manifests with a wide spectrum of clinical symptoms and variable age… read more here.
Keywords: niemann pick; variant; disease type; pick disease ... See more keywords
An Autopsy Case of Preclinical/Early Clinical Pick Disease.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of neuropathology and experimental neurology"
DOI: 10.1093/jnen/nlz077
Abstract: Here, we report a 74-year-old woman with a long history of schizophrenia but no clinical manifestation of dementia. Cause of death after autopsy was atherosclerotic heart disease. Although neuropathological investigation showed no significant brain atrophy,… read more here.
Keywords: early clinical; preclinical early; disease; clinical pick ... See more keywords