Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Adaptive protein synthesis in genetic models of copper deficiency and childhood neurodegeneration.
Mol Biol Cell
January 2025
Department of Cell Biology, Emory University, 615 Michael St, Atlanta, GA, USA, 30322.
Rare inherited diseases caused by mutations in the copper transporters (CTR1) or induce copper deficiency in the brain, causing seizures and neurodegeneration in infancy through poorly understood mechanisms. Here, we used multiple model systems to characterize the molecular mechanisms by which neuronal cells respond to copper deficiency. Targeted deletion of CTR1 in neuroblastoma cells produced copper deficiency that produced a metabolic shift favoring glycolysis over oxidative phosphorylation.
View Article and Find Full Text PDFComprehensive analysis of the cerebellar vasculature of dromedary camels ().
Front Vet Sci
January 2025
Department of Veterinary Medicine, College of Agriculture and Veterinary Medicine, United Arab Emirates University, Al Ain, United Arab Emirates.
The current study performed a comprehensive assessment of blood supply in the cerebellum of dromedary camels. To the best of our knowledge, this study is the first to provide detailed information about the origins, routes, and complicated patterns of branching in the rostral and caudal cerebellar arteries of dromedary camels. In total, 55 heads from male dromedary camels aged 2-6 years were analyzed using advanced casting techniques.
View Article and Find Full Text PDFCARP VIII antibody-related autoimmune cerebellar ataxia in a child after infection: a case report.
Front Immunol
January 2025
First Department of Pediatrics, Weifang People's Hospital Affiliated to Shandong Second Medical University, Weifang, China.
Autoimmune cerebellar ataxia (ACA) is a cerebellar syndrome induced by autoimmune reactions and its onset is induced by malignant tumors, prodromic infection, and gluten allergy. Its clinical symptoms include gait disorder, limb ataxia, dysarthria, and dysphagia. According to , the diagnosis of ACA is based on the following points: 1.
View Article and Find Full Text PDFNatural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients.
Mol Genet Metab
January 2025
Image Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA. Electronic address:
Objective: GM1 gangliosidosis is a rare lysosomal storage disorder characterized by the accumulation of GM1 gangliosides in neuronal cells, resulting in severe neurodegeneration. Currently, limited data exists on the brain volumetric changes associated with this disease. This study focuses on the late-infantile and juvenile subtypes of type II GM1 gangliosidosis, aiming to quantify brain volumetric characteristics to track disease progression.
View Article and Find Full Text PDFSpinocerebellar Ataxia Type 2: A Review and Personal Perspective.
Neurol Genet
February 2025
University of Utah, Salt Lake City.
Spinocerebellar ataxias (SCAs) are dominantly inherited diseases that lead to neurodegeneration in the cerebellum and other parts of the nervous system. This review examines the progress that has been made in SCA2 from its initial clinical description to discovery of DNA CAG-repeat expansions in the gene. repeat alleles cover the range from recessive and dominant mendelian alleles to risk alleles for amyotrophic lateral sclerosis.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!