Results 61 to 70 of about 14,329 (183)
Andrology, EarlyView.ABSTRACT Background Klinefelter syndrome (KS) is characterized by marked phenotypic heterogeneity that might be influenced by genetic modifiers, including androgen receptor (AR) repeat length (CAGn and GGCn). The clinical relevance of these repeat lengths in patients with KS before testosterone replacement therapy (TRT) remains unclear.
Andrea Graziani +8 more
wiley +1 more source
Hunting for the cause: Evidence for prion-like mechanisms in Huntington’s disease
Frontiers in Neuroscience, 2022 The hypothesis that pathogenic protein aggregates associated with neurodegenerative diseases spread from cell-to-cell in the brain in a manner akin to infectious prions has gained substantial momentum due to an explosion of research in the past 10–15 ...
Kirby M. Donnelly +7 more
doaj +1 more source
The FEBS Journal, EarlyView.We investigated the potential of iloperidone as an activator of Sigma‐1 receptor (S1R) neuroprotective function in juvenile Huntington's disease (jHD). We tested iloperidone on cortical neurons differentiated from patient‐derived iPSCs, demonstrating that it acts as a S1R agonist, decreasing apoptosis, huntingtin aggregation, and oxidative stress ...
Ersilia Fornetti +11 more
wiley +1 more source
Sleep Alterations in a Mouse Model of Spinocerebellar Ataxia Type 3
Cells, 2022 Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder showing progressive neuronal loss in several brain areas and a broad spectrum of motor and non-motor symptoms, including ataxia and altered sleep.
Maria-Efstratia Tsimpanouli +6 more
doaj +1 more source
The FEBS Journal, EarlyView.Insoluble protein aggregates are a hallmark of neurodegenerative diseases like amyotrophic lateral sclerosis (ALS). The ubiquitin–proteasome system (UPS) serves as a neuroprotective quality control mechanism that clears aggregates. PML nuclear bodies (NBs) were proposed to serve as hubs for SUMO‐primed ubiquitylation and degradation of misfolded ...
Tabea Stark, Stefan Müller
wiley +1 more source
Polyglutamine inclusion body toxicity [PDF]
Movement Disorders, 2017 Peer Reviewed ; https://deepblue.lib.umich.edu/bitstream/2027.42/141741/1/mds27226_am.pdf ; https://deepblue.lib.umich.edu/bitstream/2027.42/141741/2/mds27226 ...
openaire +3 more sources
Frontiers in Cell and Developmental Biology, 2022 Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited cerebellar ataxia caused by the expansion of a polyglutamine (polyQ) repeat in the gene encoding ATXN3.
Karen Jansen-West +22 more
doaj +1 more source
Technologies for engineering repetitive DNA
Quantitative Biology, Volume 14, Issue 3, September 2026.Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley +1 more source
The emerging role of the first 17 amino acids of huntingtin in Huntington’s disease
Biomolecular Concepts, 2015 Huntington’s disease (HD) is caused by a polyglutamine (polyQ) domain that is expanded beyond a critical threshold near the N-terminus of the huntingtin (htt) protein, directly leading to htt aggregation. While full-length htt is a large (on the order of
Arndt James R. +2 more
doaj +1 more source
Rapid generation of prion disease models using AAV‐delivered PrP variants in knockout mice
Brain Pathology, Volume 36, Issue 4, July 2026.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