GSE219007 The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells ChIP-seq
This study sought to determine the genes being directly impacted by the epigenetic dysfunction at H3K27. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - May 31, 2023 Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Mus musculus Source Type: research
N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study
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 ... (Source: Trials)
Source: Trials - May 29, 2023 Category: General Medicine Authors: 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 and M Strupp Tags: Study protocol Source Type: research
Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease
EBioMedicine. 2023 May 26;92:104628. doi: 10.1016/j.ebiom.2023.104628. Online ahead of print.ABSTRACTBACKGROUND: 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 that CLN3 affects the trafficking of the cation-independent mannose-6 phosphate receptor and its ligand NPC2, we hypothesised that dysfunction of CLN3 leads to the aberrant accumulation of cholesterol in the late endosomes/lysosomes (LE/Lys) of JNCL patients' brains.METHODS: An immunopurif...
Source: Cancer Control - May 28, 2023 Category: Cancer & Oncology Authors: Jacinda Chen Rajesh Kumar Soni Yimeng Xu Sabrina Simoes Feng-Xia Liang Laura DeFreitas Robert Hwang Jorge Montesinos Joseph H Lee Estela Area-Gomez Renu Nandakumar Badri Vardarajan Catherine Marquer Source Type: research
Current advancements in therapy for Niemann-Pick disease: progress and pitfalls
Expert Opin Pharmacother. 2023 May 21:1-19. doi: 10.1080/14656566.2023.2215386. Online ahead of print.ABSTRACTINTRODUCTION: Niemann-Pick disease type C (NPC) is a rare, autosomal recessive, lysosomal storage disorder. To combat the progressive neurodegeneration in NPC, disease-modifying treatment needs to be introduced early in the course of the disease. The only approved, disease-modifying treatment is a substrate-reduction treatment, miglustat. Given miglustat's limited efficacy, new compounds are under development, including gene therapy; however, many are still far from clinical use. Moreover, the phenotypic heterogene...
Source: Expert Opinion on Pharmacotherapy - May 22, 2023 Category: Drugs & Pharmacology Authors: Tatiana Bremova-Ertl Susanne Schneider Source Type: research
Niemann-Pick type C disease: Case report and review of the literature
We report a case of a 23-year-old woman who initially showed ataxia, altered gait and tremor. She subsequently developed cognitive decline and psychiatric symptoms. She had asphyxia at birth and was diagnosed as hypoxic-ischemic encephalopathy and cerebral palsy before. The chest computed tomography (CT) incidentally showed splenomegaly. Brain magnetic resonance imaging (MRI) showed no significant abnormalities. Genetic analysis revealed compound heterozygous mutations of NPC1. The clinical picture of NPC can be markedly variable, so comprehensive clinical evaluation, neurological examination and laboratory test are quite ...
Source: Neuroendocrinology Letters - May 14, 2023 Category: Endocrinology Authors: Chang Liu Jiamin Li Tao Xu Min Song Haiyan Luo Source Type: research
