Rapid generation of prion disease models using AAV‐delivered PrP variants in knockout mice
Brain Pathology, EarlyView.We developed a rapid AAV‐based system to generate prion disease models in weeks rather than months. Following systemic AAV9P31 delivery of modified PrP to knockout mice, we achieved brain‐wide expression and successful propagation of both classical (RML) and atypical (GSS‐A117V) prion strains.
Maitena San‐Juan‐Ansoleaga +11 more
wiley +1 more source
The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease
Brain Pathology, EarlyView.SIDT2‐immunoreactive inclusions are observed in the striatum, cerebral cortex, and hypothalamus in HD cases with different Vonsattel grades, and the frequency of SIDT2‐immunoreactive inclusions is associated with longer CAG repeats in the huntingtin gene.
Sanaz Gabery +17 more
wiley +1 more source
Role of funders in embedding tests in conservation practice
Conservation Biology, EarlyView.Abstract Effective conservation practice requires decisions based on reliable and relevant evidence, but significant gaps in the evidence base exist. Incorporating well‐designed tests of the effectiveness of interventions for biodiversity in conservation projects is one of the best ways to scale up the rate of evidence generation.
Rebecca K. Smith +28 more
wiley +1 more source
Cell Proliferation, EarlyView.Clinical‐grade HLA‐homozygous iPSC‐derived neural precursor cells restore motor function, rebuild striatal circuitry and reduce neuroinflammation in QA‐lesioned rats. These findings demonstrate robust neuronal replacement and microenvironment modulation, supporting their potential as a regenerative therapy for Huntington's disease.
Hyeonjoong Jeon +6 more
wiley +1 more source
Higher educational attainment in Huntington disease families: evidence from the Enroll-HD study. [PDF]
Orphanet J Rare DisVazquez JE +5 more
europepmc +1 more source
A guide to the types, structures, and multifaceted functions of matrix metalloproteinases in cancer
The FEBS Journal, EarlyView.Matrix metalloproteinases (MMPs) orchestrate cancer progression and metastasis through proteolytic and non‐proteolytic actions. By remodeling the tumor microenvironment, enhancing growth factor availability, and modulating cell behavior, MMPs promote proliferation, migration or invasion, and epithelial‐to‐mesenchymal transition. Alongside extracellular
Zoi Piperigkou +4 more
wiley +1 more source
Life Without Hope? Huntington\u27s Disease and Genetic Futurity [PDF]
, 2013 Canavan, Gerry
core +1 more source
Associations Between Lifetime Stressor Exposure and Externalizing Problems in Youth at Risk for Huntington Disease. [PDF]
Brain BehavMcDonell KE +7 more
europepmc +1 more source
Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1
The FEBS Journal, EarlyView.PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio +12 more
wiley +1 more source
Proteostasis of organelles in aging and disease
The FEBS Journal, EarlyView.Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi +5 more
wiley +1 more source