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
Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism
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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
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasis
Sign Up to like & getrecommendations! Published in 2017 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a001966
Abstract: Niemann–Pick type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in NPC1. Although characterized as a progressive neurological disorder, it… read more here.
Keywords: novel homozygous; rapid whole; pick type; type disease ... See more keywords
Normal long‐term neurologic and graft outcome after liver transplantation in an infant with Neimann‐Pick type C disease
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Transplantation"
DOI: 10.1111/ajt.16819
Abstract: Niemann‐Pick type C disease is a rare autosomal recessive lysosomal disorder that leads to the accumulation of lipids in cellular organelles. Affected infants are often cholestatic with hepatosplenomegaly, developmental delay and may present in acute… read more here.
Keywords: long term; pick type; disease; liver transplantation ... See more keywords
Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders
Sign Up to like & getrecommendations! Published in 2022 at "Developmental Medicine and Child Neurology"
DOI: 10.1111/dmcn.15334
Abstract: Using Niemann–Pick type C disease (NPC) as a paradigm, we aimed to improve biomarker discovery in patients with neurometabolic disorders. read more here.
Keywords: neurometabolic disorders; niemann pick; pick type; type disease ... See more keywords
Model construction of Niemann-Pick type C disease in zebrafish
Sign Up to like & getrecommendations! Published in 2018 at "Biological Chemistry"
DOI: 10.1515/hsz-2018-0118
Abstract: Abstract Niemann-Pick type C disease (NPC) is a rare human disease, with limited effective treatment options. Most cases of NPC disease are associated with inactivating mutations of the NPC1 gene. However, cellular and molecular mechanisms… read more here.
Keywords: disease; model; npc1 zebrafish; pick type ... See more keywords
Repurposing Dipyridamole in Niemann Pick Type C Disease: A Proof of Concept Study
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23073456
Abstract: Niemann Pick type C disease (NPC) is a rare disorder characterized by lysosomal lipid accumulation that damages peripheral organs and the central nervous system. Currently, only miglustat is authorized for NPC treatment in Europe, and… read more here.
Keywords: proof concept; pick type; disease; niemann pick ... See more keywords
Mortality in emphysematous pyelonephritis: Can we reduce it further by using a protocol-based treatment? The results of a prospective study
Sign Up to like & getrecommendations! Published in 2022 at "Urology Annals"
DOI: 10.4103/ua.ua_164_20
Abstract: Introduction: Even though the mortality rate in emphysematous pyelonephritis (EPN) is brought down presently to 13%–25%, there is still scope for improvement. The hurdle lies in identifying those patients at risk of mortality earlier in… read more here.
Keywords: patients type; mortality; risk; treatment ... See more keywords