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   Articles with "niemann pick" as a keyword



Primary cilium alterations and expression changes of Patched1 proteins in niemann‐pick type C disease

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recommendations! 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

Dipyridamole Ameliorates Memory Impairment and Increases Hippocampal Calbindin Expression in Niemann Pick C1 Mice

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recommendations! Published in 2024 at "Journal of Neuroscience Research"

DOI: 10.1002/jnr.70011

Abstract: Niemann Pick type C1 (NPC1) is a rare, fatal disorder characterized by endosomal lipid accumulation that leads to damage of both peripheral organs and central nervous system (cerebellum and hippocampus are especially affected). Currently, miglustat… read more here.

Keywords: mice; pathology; drug; dipyridamole ... See more keywords

Gelastic Cataplexy in Niemann Pick Type C

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recommendations! 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

Niemann‐Pick Type C Disease: From Variant of Uncertain Significance to Pathogenic Variant

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recommendations! Published in 2025 at "Movement Disorders Clinical Practice"

DOI: 10.1002/mdc3.14340

Abstract: Niemann-Pick type C (NPC) disease is a slowly progressive lysosomal autosomal recessive disorder with variable age of onset. Adult patients usually have a neurological-dominant phenotype with supranuclear gaze palsy, neuropsychiatric manifestations, early-onset dementia and movement… read more here.

Keywords: disease; variant; pick type; niemann pick ... See more keywords

Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann–Pick type C disease: review of initial published cases

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recommendations! 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

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recommendations! 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

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recommendations! 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.

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recommendations! 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)

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recommendations! 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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recommendations! Published in 2017 at "Brain Research"

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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recommendations! Published in 2019 at "Cell reports"

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