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| http://dx.doi.org/10.3233/JHD-240043 | DOI Listing |
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Advances in Stem Cell Therapy for Huntington's Disease: A Comprehensive Literature Review.
Cells
January 2025
Department of Neurosurgery, University of Florida, Gainesville, FL 32608, USA.
Huntington's disease (HD) is an inherited neurodegenerative disease characterized by uncontrolled movements, emotional disturbances, and progressive cognitive impairment. It is estimated to affect 4.3 to 10.
View Article and Find Full Text PDFCalcium Signalling in Neurological Disorders, with Insights from Miniature Fluorescence Microscopy.
Cells
December 2024
Neural Dynamics Laboratory, Department of Medicine, The University of Melbourne, Melbourne, VIC 3052, Australia.
Neurological disorders (NDs), such as amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and schizophrenia, represent a complex and multifaceted health challenge that affects millions of people around the world. Growing evidence suggests that disrupted neuronal calcium signalling contributes to the pathophysiology of NDs. Additionally, calcium functions as a ubiquitous second messenger involved in diverse cellular processes, from synaptic activity to intercellular communication, making it a potential therapeutic target.
View Article and Find Full Text PDFMsh2-Msh3 DNA-binding is not sufficient to promote trinucleotide repeat expansions in Saccharomyces cerevisiae.
Genetics
January 2025
Department of Biochemistry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14203, USA.
Mismatch repair (MMR) is a highly conserved DNA repair pathway that recognizes mispairs that occur spontaneously during DNA replication and coordinates their repair. In Saccharomyces cerevisiae, Msh2-Msh3 and Msh2-Msh6 initiate MMR by recognizing and binding insertion deletion loops (in/dels) up to ∼ 17 nucleotides (nt.) and base-base mispairs, respectively; the two complexes have overlapping specificity for small (1-2 nt.
View Article and Find Full Text PDFA collaborative network analysis for the interpretation of transcriptomics data in Huntington's disease.
Sci Rep
January 2025
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Rare diseases may affect the quality of life of patients and be life-threatening. Therapeutic opportunities are often limited, in part because of the lack of understanding of the molecular mechanisms underlying these diseases. This can be ascribed to the low prevalence of rare diseases and therefore the lower sample sizes available for research.
View Article and Find Full Text PDFThe Huntington’s Disease Integrated Staging System.
Alzheimers Dement
December 2024
Departments of Psychiatry and Biostatistics, University of Iowa, IA, USA
The Huntington’s Disease Integrated Staging System (HD‐ISS) comprises a biological research definition of HD and evidence‐based staging centered on prognostic biological, clinical, and functional landmarks. It is the result of a formal consensus process within the Huntington’s Disease Regulatory Science Consortium’s Regulatory Science Forum (RSF), a working group made up of expert representatives from industry and academia. The RSF considered prognostic biomarkers, signs, and symptoms of HD, and performed empirical data analysis.
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