Results 11 to 20 of about 24,478,248 (209)
Niemann-Pick disease type C [PDF]
Orphanet Journal of Rare Diseases, 2010 Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births.
Vanier Marie T
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Niemann-Pick type C disease [PDF]
Journal of Lipid Research, 2002 We analyzed Niemann-Pick type C disease 1 (NP44406) gene in 12 patients with Niemann-Pick type C disease by sequencing both cDNA obtained from fibroblasts and genomic DNA. All the patients were compound heterozygotes.
Patrizia Tarugi +9 more
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Aspectes moleculars de dues malalties de transport lisosòmic: la cistinosi i la malaltia de Niemann-Pick tipus C [PDF]
, 2012 [cat] La cistinosi i la malaltia de Niemann-Pick tipus C (NPC) són dues patologies hereditàries monogèniques poc freqüents, per aquest motiu estan classificades dins del grup de malalties anomenades rares.
Macías Vidal, Judit
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Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease [PDF]
Frontiers in Physiology, 2017 Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct ...
Sandra Torres +10 more
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Aproximació terapèutica per a la malaltia de Gaucher basada en xaperones [PDF]
, 2011 [cat] En aquesta tesi s’ha realitzat una aproximació terapèutica per a la malaltia de Gaucher, basada en xaperones farmacològiques. La malaltia de Gaucher és una malaltia d’acúmul lisosòmic d'herència autosòmica recessiva, causada per mutacions en el ...
Sànchez Ollé, Gessamí
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Gelastic Cataplexy in Niemann Pick Type C [PDF]
Movement Disorders Clinical Practice, 2019 View Supplementary Video 1View Supplementary Video 2View Supplementary Video 3View Supplementary Video ...
Narges Yazdi +3 more
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Niemann-Pick type C fibroblasts are resistant against GalSph- and GlcSph-induced cell death.
, 2022 (A-C) Death of fibroblasts from healthy controls or patients with Niemann-Pick type C disease (NPC) treated with indicated concentrations of GalSph (A), GlcSph (B), or ebastine (C) for 48 hours was determined as in Fig 1A.
Kamilla Stahl-Meyer (14149669) +7 more
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Cholesterol in Niemann–Pick Type C disease [PDF]
, 2010 Niemann-Pick Type C (NPC) disease is associated with accumulation of cholesterol and other lipids in late endosomes/lysosomes in virtually every organ; however, neurodegeneration represents the fatal cause for the disease. Genetic analysis has identified loss-of-function mutations in NPC1 and NPC2 genes as the molecular triggers for the disease ...
Xiaoning, Bi, Guanghong, Liao
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A case of Niemann – Pick disease type C
Неврология, нейропсихиатрия, психосоматика, 2013 The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov +2 more
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Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments
Journal of Lipid Research, 2000 Niemann-Pick type C (NPC) disease is characterized by an accumulation of cholesterol and other lipids in the lysosomal compartment. In this report, we use subcellular fractionation and microscopy to determine the localization of the murine Niemann-Pick ...
William S. Garver +4 more
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