Huntington's disease (HD) is a rare neurodegenerative disorder that progressively destroys the mental capacity and motor control of patients. This loss of motor control results in abnormal body movements (chorea) - the hallmark of HD. Given that no disease-modifying therapy for HD exists and that available symptomatic treatments are not highly efficacious, the medical need for this 'orphan' disease remains high. The number of compounds that are undergoing discovery and development for the treatment of HD has increased significantly in recent years, spurred by legislative incentives for orphan drug development and by support from non-profit foundations. Thus, hope exists for patients with HD that efficacious medicines will become available.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells.
Cell Mol Biol Lett
January 2025
Enzymology and Metabolism Group, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, L-4367, Belvaux, Luxembourg.
Background: Metabolism is error prone. For instance, the reduced forms of the central metabolic cofactors nicotinamide adenine dinucleotide (NADH) and nicotinamide adenine dinucleotide phosphate (NADPH), can be converted into redox-inactive products, NADHX and NADPHX, through enzymatically catalyzed or spontaneous hydration. The metabolite repair enzymes NAXD and NAXE convert these damaged compounds back to the functional NAD(P)H cofactors.
View Article and Find Full Text PDFActive biomonitoring of stream ecosystems: untargeted metabolomic and proteomic responses and free radical scavenging activities in mussels.
Ecotoxicology
January 2025
Laboratory of Ecology and Conservation, Faculty of Biology, Universitas Gadjah Mada, Sleman, Yogyakarta, Indonesia.
Many contaminants from scattered sources constantly endanger streams that flow through heavily inhabited areas, commercial districts, and industrial hubs. The responses of transplanted mussels in streams in active biomonitoring programs will reflect the dynamics of environmental stream conditions. This study evaluated the untargeted metabolomic and proteomic responses and free radical scavenging activities of transplanted mussels Sinanodonta woodiana in the Winongo Stream at three stations (S1, S2, S3) representing different pollution levels: low (S1), high (S2), and moderate (S3).
View Article and Find Full Text PDFAcidic pH can attenuate immune killing through inactivation of perforin.
EMBO Rep
January 2025
Killer Cell Biology Laboratory, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Cytotoxic lymphocytes are crucial to our immune system, primarily eliminating virus-infected or cancerous cells via perforin/granzyme killing. Perforin forms transmembrane pores in the plasma membrane, allowing granzymes to enter the target cell cytosol and trigger apoptosis. The prowess of cytotoxic lymphocytes to efficiently eradicate target cells has been widely harnessed in immunotherapies against haematological cancers.
View Article and Find Full Text PDFInterpretable identification of cancer genes across biological networks via transformer-powered graph representation learning.
Nat Biomed Eng
January 2025
Xinjiang Technical Institutes of Physics and Chemistry, Chinese Academy of Sciences, Urumqi, China.
Graph representation learning has been leveraged to identify cancer genes from biological networks. However, its applicability is limited by insufficient interpretability and generalizability under integrative network analysis. Here we report the development of an interpretable and generalizable transformer-based model that accurately predicts cancer genes by leveraging graph representation learning and the integration of multi-omics data with the topologies of homogeneous and heterogeneous networks of biological interactions.
View Article and Find Full Text PDFCancer vaccines: platforms and current progress.
Mol Biomed
January 2025
Department of Medical Oncology, Cancer Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Cancer vaccines, crucial in the immunotherapeutic landscape, are bifurcated into preventive and therapeutic types, both integral to combating oncogenesis. Preventive cancer vaccines, like those against HPV and HBV, reduce the incidence of virus-associated cancers, while therapeutic cancer vaccines aim to activate dendritic cells and cytotoxic T lymphocytes for durable anti-tumor immunity. Recent advancements in vaccine platforms, such as synthetic peptides, mRNA, DNA, cellular, and nano-vaccines, have enhanced antigen presentation and immune activation.
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!