Results 61 to 70 of about 9,196 (170)

Limited Clinical Impact of Androgen Receptor Repeat Length (CAG and GGC) in Klinefelter Syndrome: A Multivariable Analysis

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, Alberto Scala, Maria Santa Rocca, Cinzia Vinanzi, Giuseppe Grande, Andrea Di Nisio, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +8 more
wiley   +1 more source

Viral-based animal models in polyglutamine disorders

Brain
Abstract Polyglutamine disorders are a complex group of incurable neurodegenerative disorders caused by an abnormal expansion in the trinucleotide cytosine-adenine-guanine tract of the affected gene. To better understand these disorders, our dependence on animal models persists, primarily relying on transgenic models.
Carina Henriques, Miguel M Lopes, Ana C Silva, Diana D Lobo, Romina Aron Badin, Philippe Hantraye, Luís Pereira de Almeida, Rui Jorge Nobre   +7 more
openaire   +3 more sources

Autophagy in polyglutamine disease: Imposing order on disorder or contributing to the chaos? [PDF]

Molecular and Cellular Neuroscience, 2015
Autophagy is an essential, fundamentally important catabolic pathway in which double membrane-bound vesicles form in the cytosol and encircle macromolecules and organelles to permit their degradation after fusion with lysosomes. More than a decade of research has revealed that autophagy is required for normal central nervous system (CNS) function and ...
Constanza J, Cortes, Albert R, La Spada
openaire   +2 more sources

Iloperidone treatment mitigates the Juvenile Huntington's Disease phenotype possibly via Sigma‐1 Receptor Modulation

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, Gaia Galluzzi, Mario Frezzini, Cécile Exertier, Vittorio Brufani, Gianni Colotti, Giancarlo Ruocco, Jessica Rosati, Angelo Luigi Vescovi, Daniele Narzi, Ilaria Genovese, Andrea Ilari   +11 more
wiley   +1 more source

PML as a neuroprotective guardian: Leveraging nuclear protein quality control to mitigate neurotoxicity of an ALS‐associated NEK1 variant

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

Mesenchymal stem cells for lysosomal storage and polyglutamine disorders: Possible shared mechanisms [PDF]

European Journal of Clinical Investigation, 2021
AbstractBackgroundMesenchymal stem cells' (MSC) therapeutic potential has been investigated for the treatment of several neurodegenerative diseases. The fact these cells can mediate a beneficial effect in different neurodegenerative contexts strengthens their competence to target diverse mechanisms.
openaire   +2 more sources

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

Regulation of mRNA translation by MID1: a common mechanism of expanded CAG repeat RNAs

Frontiers in Cellular Neuroscience, 2016
Expansion of CAG repeats, which code for the disease-causing polyglutamine protein, is a common feature in polyglutamine diseases. RNA-mediated mechanisms that contribute to neuropathology in polyglutamine diseases are important. RNA-toxicity describes a
Nadine Griesche, Judith Schilling, Stephanie Weber, Marlena Rohm, Verena Pesch, Frank Matthes, Georg Auburger, Sybille Krauss   +7 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, Eva Fernández‐Muñoz, Jorge M. Charco, Enric Vidal, Diego Herrero‐Martínez, Josu Galarza‐Ahumada, Cristina Sampedro‐Torres‐Quevedo, Samanta Giler, Mariví Geijo, Gloria González‐Aseguinolaza, Hasier Eraña, Joaquín Castilla   +11 more
wiley   +1 more source

Stem cell models of polyglutamine diseases and their use in cell-based therapies

Frontiers in Neuroscience, 2015
Polyglutamine diseases are fatal neurological disorders that affect the central nervous system. They are caused by mutations in disease genes that contain CAG trinucleotide expansions in their coding regions.
Evangelia eSiska, George eKoliakos, George eKoliakos, Spyros ePetrakis   +3 more
doaj   +1 more source