Results 41 to 50 of about 28,047,610 (162)
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
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
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
Altered gene expression in the liver and small intestine of horses with equine neuroaxonal dystrophy
Equine Veterinary Journal, EarlyView.Abstract Background Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is the second most common diagnosis of spinal ataxia in horses in the United States. The disease develops due to a combination of vitamin E deficiency and an unknown genetic risk factor(s), and there currently is no effective treatment.
Stephanie Ryan +4 more
wiley +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
Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway +37 more
wiley +1 more source
Defective iron homeostasis and haematological abnormalities in Niemann-Pick disease type C1
, 2022 An investigation of iron-related parameters and haematological parameters in a mouse model of Niemann-Pick disease type C1 and in Niemann-Pick disease type C1 ...
Stephan Siebel +16 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
Yeast, EarlyView.ABSTRACT The knockout strain collection of Saccharomyces cerevisiae has served as a valuable resource for functional genomics and yeast‐based biotechnology studies. A comprehensive single‐gene knockout strain collection, covering nearly all non‐essential genes, together with complementary mutant collections for essential genes, including temperature ...
Takashi Hirasawa
wiley +1 more source
A clinical case of adult onset Niemann–Pick disease type C
Неврология, нейропсихиатрия, психосоматика, 2016 The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease.
E. V. Saifullina +6 more
doaj +1 more source