Primary cilium alterations and expression changes of Patched1 proteins in niemann‐pick type C disease
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Cellular Physiology"
DOI: 10.1002/jcp.25926
Abstract: Niemann‐Pick type C disease (NPC) is a disorder characterized by abnormal intracellular accumulation of unesterified cholesterol and glycolipids. Two distinct disease‐causing genes have been isolated, NPC1 and NPC2. The NPC1 protein is involved in the… read more here.
Keywords: disease; pick type; expression; type disease ... See more keywords
Gelastic Cataplexy in Niemann Pick Type C
Sign Up to like & getrecommendations! Published in 2019 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12786
Abstract: Cataplexy delineates a brief episode of generalized loss of muscle tone without alteration in consciousness. When cataplexy is triggered by laughter, the term “gelastic” is utilized. Gelastic cataplexy and vertical supranuclear gaze palsy (VSGP) are… read more here.
Keywords: pick type; cataplexy niemann; gelastic cataplexy; cataplexy ... See more keywords
Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann–Pick type C disease: review of initial published cases
Sign Up to like & getrecommendations! Published in 2017 at "Neurological Sciences"
DOI: 10.1007/s10072-017-2833-9
Abstract: Niemann–Pick type C (NP-C) is a rare neurodegenerative disorder. Management is mainly supportive and symptomatic. The investigational use of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) showed a promising role in treating NP-C, although efficacy and safety have not been… read more here.
Keywords: use hydroxypropyl; use; compassionate use; pick type ... See more keywords
Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism
Sign Up to like & getrecommendations! Published in 2019 at "Metabolic Brain Disease"
DOI: 10.1007/s11011-019-00445-w
Abstract: Niemann-Pick type C disease (NPC) is a genetically determined neurodegenerative metabolic disease resulting from the mutations in the NPC1 or NPC2 genes. It belongs to the lysosomal storage diseases and its main cause is impaired… read more here.
Keywords: cholesterol; disease; pick type; type disease ... See more keywords
Preliminary development of proxy-rated quality-of-life scales for children and adults with Niemann-Pick type C
Sign Up to like & getrecommendations! Published in 2019 at "Quality of Life Research"
DOI: 10.1007/s11136-019-02234-5
Abstract: Niemann-Pick disease type C (NPC) is a rare life-limiting disease for which there is no cure. No scales currently exist to measure the impact of medication, physical therapy or clinical trials. The aim of this… read more here.
Keywords: children adults; quality life; life; living npc ... 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
Molecular identification and functional analysis of Niemann-Pick type C2 protein in Macrocentrus cingulum Brischke (Hymenoptera: Braconidae)
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Asia-pacific Entomology"
DOI: 10.1016/j.aspen.2020.11.001
Abstract: Abstract Niemann-Pick type C2 (NPC2) proteins in arthropods have been extensively differentiated and possibly duplicated according to environmental conditions and are probable to have different functions. The participation of NPC2 proteins in chemical communication in… read more here.
Keywords: mcinnpc2; pick type; niemann pick; macrocentrus cingulum ... See more keywords
Modeling Niemann Pick type C1 using human embryonic and induced pluripotent stem cells
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DOI: 10.1016/j.brainres.2016.03.007
Abstract: Data generated in Niemann Pick type C1 (NPC1) human embryonic and human induced pluripotent stem cell derived neurons complement on-going studies in animal models and provide the first example, in disease-relevant human cells, of processes… read more here.
Keywords: pick type; pluripotent stem; induced pluripotent; stem ... See more keywords
Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability
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DOI: 10.1016/j.celrep.2019.04.099
Abstract: SUMMARY There is increasing evidence that the lysosome is involved in the pathogenesis of a variety of neurodegenerative disorders. Thus, mechanisms that link lysosome dysfunction to the disruption of neuronal homeostasis offer opportunities to understand… read more here.
Keywords: neuronal excitability; niemann pick; lysosomal cholesterol; disease ... 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
Novel Mutations in the SMPD1 Gene in Jordanian Children with Acid Sphingomyelinase Deficiency (Niemann-Pick Types A and B).
Sign Up to like & getrecommendations! Published in 2020 at "Gene"
DOI: 10.1016/j.gene.2020.144683
Abstract: Acid sphingomyelinase (ASM) deficiency (ASMD) is a spectrum that includes Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). ASMD is characterized by intracellular accumulation of unesterified cholesterol and gangliosides within the endosomal-lysosomal… read more here.
Keywords: mutations smpd1; smpd1 gene; gene; acid sphingomyelinase ... See more keywords