Zobrazeno 1 - 10
of 1 363
pro vyhledávání: '"Niemann–Pick type C"'
Autor:
Hedyeh Saneifard, Marjan Shakiba, Mohammadreza Alaei, Asieh Mosallanejad, Shirin Ghanefard, Mehrdad Yasaei, Kimia Karimi Toudeshki
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101124- (2024)
Niemann Pick Type C disease is a rare and progressive neurodegenerative lysosomal storage disorder caused by autosomal recessive mutations in the NPC1 and NPC2 genes. It is characterized by the accumulation of multiple lipid species in the endolysoso
Externí odkaz:
https://doaj.org/article/d77ce205b35a4fb19f0cb8bf467c1076
Publikováno v:
Frontiers in Veterinary Science, Vol 11 (2024)
Besnoitia besnoiti is a cyst-forming apicomplexan parasite and the causal agent of bovine besnoitiosis. During early phase of infection, tachyzoites replicate within host endothelial cells in a host cell cholesterol-dependent process. By applying U18
Externí odkaz:
https://doaj.org/article/0e0e534743d247e097582a915bef7b99
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Objectives To describe Niemann-Pick type C (NP-C) behavioral symptoms (focusing on psychotic symptoms) and its relation to frontal lobe functioning. Methods We retrospectively reviewed medical charts of NP-C-patients followed in the Lysosoma
Externí odkaz:
https://doaj.org/article/0c75d7ce2eda454989ef792d6ca60bef
Autor:
T Fields, T M. Bremova, I Billington, GC Churchill, W Evans, C Fields, A Galione, R Kay, T Mathieson, K Martakis, M Patterson, F Platt, M Factor, M Strupp
Publikováno v:
Trials, Vol 24, Iss 1, Pp 1-9 (2023)
Abstract Background Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative lysosomal disease characterized by multiple symptoms such as progressive cerebellar ataxia and cognitive decline. The modified amino acid N-acetyl-l
Externí odkaz:
https://doaj.org/article/b2d970821a9f469ab49d495161a18d9d
Autor:
Nazgol Motamed-Gorji, Youssef Khalil, Cristina Gonzalez-Robles, Shamsher Khan, Philippa Mills, Hector Garcia-Moreno, Heather Ging, Ambreen Tariq, Peter T. Clayton, Paola Giunti
Publikováno v:
Antioxidants, Vol 13, Iss 5, p 561 (2024)
Ataxia is a common neurological feature of Niemann–Pick disease type C (NPC). In this disease, unesterified cholesterol accumulates in lysosomes of the central nervous system and hepatic cells. Oxidation by reactive oxygen species produces oxystero
Externí odkaz:
https://doaj.org/article/0efdb0f636d045a4a21de458aecaca0b
Akademický článek
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Akademický článek
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Autor:
Jacinda Chen, Rajesh Kumar Soni, Yimeng Xu, Sabrina Simoes, Feng-Xia Liang, Laura DeFreitas, Robert Hwang, Jr., Jorge Montesinos, Joseph H. Lee, Estela Area-Gomez, Renu Nandakumar, Badri Vardarajan, Catherine Marquer
Publikováno v:
EBioMedicine, Vol 92, Iss , Pp 104628- (2023)
Summary: Background: The most common form of neuronal ceroid lipofuscinosis (NCL) is juvenile CLN3 disease (JNCL), a currently incurable neurodegenerative disorder caused by mutations in the CLN3 gene. Based on our previous work and on the premise th
Externí odkaz:
https://doaj.org/article/7c799b4b21b24ad59d3201ed5f5b8cc6
Autor:
Fabiola De Marchi, Ivana Munitic, Lea Vidatic, Eliša Papić, Valentino Rački, Jerneja Nimac, Igor Jurak, Gabriela Novotni, Boris Rogelj, Vladimira Vuletic, Rajka M. Liscic, Jason R. Cannon, Emanuele Buratti, Letizia Mazzini, Silva Hecimovic
Publikováno v:
Biomedicines, Vol 11, Iss 10, p 2793 (2023)
Many potential immune therapeutic targets are similarly affected in adult-onset neurodegenerative diseases, such as Alzheimer’s (AD) disease, Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS), and frontotemporal dementia (FTD), as wel
Externí odkaz:
https://doaj.org/article/473fce8945424961988b168cd6f23534
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-5 (2022)
Abstract Background Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, live
Externí odkaz:
https://doaj.org/article/074536be4de340a388ca2a319c491987