Results 51 to 60 of about 25,991 (220)
Advanced Science, EarlyView.A thiol‐modified alginate hydrogel microsphere‐encapsulated enzyme‐probiotic biohybrid (AKK‐COD) system has been developed to address the spatiotemporal delivery and colonization challenges of small intestine‐targeted probiotic for lipid metabolism regulation. The system exerts sequential functions of intragastric protection, small intestinal adhesion,
Xiaolin Wu +10 more
wiley +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C [PDF]
, 2016 Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by the occurrence of visceral and neurological symptoms. At present, the molecular mechanisms causing neurodegeneration in this disease are unknown.
Bembi, Bruno +9 more
core +3 more sources
Movement Disorders, EarlyView.Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen +27 more
wiley +1 more source
First person – Jorge Rodriguez-Gil
Disease Models & Mechanisms, 2020 First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms (DMM), helping early-career researchers promote themselves alongside their papers.
doaj +1 more source
Neuroimaging Findings in a Brain With Niemann–Pick Type C Disease
Journal of the Formosan Medical Association, 2011 Niemann-Pick type C disease (NPC) is a rare autosomal recessive lipid storage disorder caused by impaired cellular functions in processing and transporting low-density lipoprotein-cholesterol.
Jei-Yie Huang +5 more
doaj +1 more source
Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia
Nature Communications, 2021 Niemann-Pick type C disease is a rare childhood neurodegenerative disorder predominantly caused by mutations in NPC1, resulting in abnormal late endosomal and lysosomal defects.
Alessio Colombo +15 more
doaj +1 more source
Ezetimibe therapy: mechanism of action and clinical update. [PDF]
, 2012 The lowering of low-density lipoprotein cholesterol (LDL-C) is the primary target of therapy in the primary and secondary prevention of cardiovascular events.
Dayspring, Thomas D +2 more
core +1 more source
Risk Prediction for Niemann-Pick Disease
Pediatric Neurology Briefs, 2012 A retrospective chart review of 216 patients with Niemann-Pick disease type C (NP-C) was conducted in 5 centers in Europe including University of Amsterdam and 2 in Australia.
J Gordon Millichap
doaj +1 more source
Oxidative stress in Niemann–Pick disease, type C [PDF]
Molecular Genetics and Metabolism, 2010 Niemann-Pick disease, type C (NPC) is a neurodegenerative lysosomal storage disorder due to impaired intracellular cholesterol and lipid transport. Increased oxidative stress has been reported in human NPC1 mutant fibroblasts and in tissues from Npc1 mutant mice. However, oxidative stress in NPC patients has not been established.
Rao, Fu +4 more
openaire +2 more sources