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
A Family with Late‐Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12920
Abstract: Niemman Pick type C (NPC) is a treatable neurodegenerative lysosomal disorder characterized by the widespread age of onset and clinical presentation. The adult NPC phenotype frequently includes ataxia, supranuclear gaze palsy, and cognitive and behavioral… read more here.
Keywords: late onset; pick type; choreic; family late ... 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
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
HSP90 inhibitors reduce cholesterol storage in Niemann-Pick type C1 mutant fibroblasts
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Lipid Research"
DOI: 10.1016/j.jlr.2021.100114
Abstract: Niemann-Pick type C1 (NPC1) disease is a lysosomal lipid storage disorder caused by mutations of the NPC1 gene. More than 300 disease-associated mutations are reported in patients, resulting in abnormal accumulation of unesterified cholesterol, glycosphingolipids,… read more here.
Keywords: storage; mutant fibroblasts; cholesterol; pick type ... See more keywords
Niemann Pick type C, une cause rare d’une pancytopénie
Sign Up to like & getrecommendations! Published in 2018 at "Revue Neurologique"
DOI: 10.1016/j.neurol.2018.01.276
Abstract: Introduction La maladie de Niemann Pick type C (NPC) est une pathologie rare. Les troubles hematologiques en particulier la pan-cytopenie ont ete rarement rapportes avec des preuves limitees. Observation Une femme âgee de 26 ans sans… read more here.
Keywords: pick type; type une; maladie npc; niemann pick ... See more keywords
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Sign Up to like & getrecommendations! Published in 2020 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2020.01.007
Abstract: Niemann-Pick type C (NPC) disease is a rare lysosomal storage disorder caused by mutations in either the NPC1 or the NPC2 gene. A new class of lipids, N-acyl-O-phosphocholineserines were recently identified as NPC biomarkers. The… read more here.
Keywords: ppcs; treatment; disease; pick type ... See more keywords
Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann – Pick type C and Sanfilippo diseases
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100477
Abstract: Lysosomal Storage Diseases (LSDs) are rare genetic diseases, the majority of which are caused by specific lysosomal enzyme deficiencies and all are characterized by malfunctioning lysosomes. Lysosomes are key regulators of many different cellular processes… read more here.
Keywords: pick type; sanfilippo; niemann pick; igg ... See more keywords