Accès ouvert
2026
article
OpenAlex
Guendalina Bergonzoni, Miguel Pellegrini, Aurora Savino, Martina Lazioli et autres
Abstract Understanding the molecular mechanisms driving selective neuronal vulnerability to different neurodegenerative disorders remains a crucial, unsolved question. Here, we explored the case of Huntington's disease (HD), where the striatum and, specifically, dopamine receptor 1 (D1R) and dopamine receptor 2 (D2R) medium‐sized …
it, be, us, es, lk
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Veronica Galli, Sara Vinciguerra, Marta Biagioli, Jasmin Morandell
Circular RNAs are a large class of non-coding RNA molecules, conserved across species and produced by back-splicing. While their molecular functions are still elusive, the ones primarily retained in the nucleus are usually associated to regulation of transcription and mRNA processing patterns. …
it
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Francesca Di Leva, Michele Arnoldi, Stefania Santarelli, Mathieu Massonot et autres
Loss-of-function mutations in the chromodomain helicase DNA-binding 8 (CHD8) gene are strongly associated with autism spectrum disorders (ASDs). Indeed, the reduction of CHD8 causes transcriptional, epigenetic, and cellular phenotypic changes correlated to disease, which can be monitored in assessing new therapeutic approaches. …
it, fr, us
(code pays fourni par la source)
Accès ouvert
2024
conference-paper
OpenAlex
Guendalina Bergonzoni, Miguel Pellegrini, Aurora Savino, Martina Lazioli et autres
Understanding the molecular mechanisms driving selective neuronal vulnerability to different neurodegenerative disorders remains a crucial, but unsolved question. Here we explored the case of Huntington’s disease (HD), where the striatum and, specifically, dopamine receptor 2 (D2R) medium-sized spiny neurons (MSNs), exhibit an …
it, us, be
(code pays fourni par la source)
Accès ouvert
2024
conference-paper
OpenAlex
Guendalina Bergonzoni, Veronica Galli, Lisa Lionello, Filippo Tell et autres
While central nervous system symptoms in HD are well-documented, less attention has been given to peripheral symptoms like unintended weight-loss1 2 and gastrointestinal (GI) dysfunction,3 4 which greatly affect patients‘ life quality. Composed by more than a dozen of different neuronal types, …
it
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Jasmin Morandell, Alan Monziani, Martina Lazioli, Deborah Donzel et autres
Circular RNA (circRNA) molecules have critical functions during brain development and in brain-related disorders. Here, we identified and validated a circRNA, circHTT(2,3,4,5,6) , stemming from the Huntington's disease (HD) gene locus that is most abundant in the central nervous system (CNS). We …
it, bg, us, mx, de, cz
(code pays fourni par la source)
Accès ouvert
2023
article
OpenAlex
Dilara Ayyildiz, Guendalina Bergonzoni, Alan Monziani, Takshashila Tripathi et autres
Alternative splicing (AS) appears to be altered in Huntington's disease (HD), but its significance for early, pre-symptomatic disease stages has not been inspected. Here, taking advantage of Htt CAG knock-in mouse in vitro and in vivo models, we demonstrate a correlation between …
it, us, de
(code pays fourni par la source)
Accès ouvert
2022
article
OpenAlex
Emanuela Kerschbamer, Michele Arnoldi, Takshashila Tripathi, Miguel Pellegrini et autres
Disruptive mutations in the chromodomain helicase DNA-binding protein 8 gene (CHD8) have been recurrently associated with autism spectrum disorders (ASDs). Here we investigated how chromatin reacts to CHD8 suppression by analyzing a panel of histone modifications in induced pluripotent stem cell-derived neural …
it, us, ca, gb
(code pays fourni par la source)
Accès ouvert
2022
article
OpenAlex
Miguel Pellegrini, Guendalina Bergonzoni, Federica Perrone, Ferdinando Squitieri et autres
Whether as a cause or a symptom, RNA transcription is recurrently altered in pathologic conditions. This is also true for non-coding RNAs, with regulatory functions in a variety of processes such as differentiation, cell identity and metabolism. In line with their increasingly …
it
(code pays fourni par la source)
2022
conference-abstract
OpenAlex
Guendalina Bergonzoni, Denise Ferrarini, Aurora Savino, Tammy Gillis et autres
The first degenerating brain region in Huntington’s disease (HD) is the striatum, with dopamine receptor 2 (D2R) medium-sized spiny neurons (MSNs) displaying relatively greater vulnerability to degeneration compared to dopamine receptor 1 (D1R) MSNs. To dissect this differential sensitivity, we integrated morphological, …
it, us, be
(code pays fourni par la source)
2022
conference-abstract
OpenAlex
Miguel Pellegrini, Dilara Ayyildiz, Guendalina Bergonzoni, Alan Monziani et autres
Alternative Splicing (AS) is crucial for generating protein-coding isoforms and circular RNAs (circRNAs), stable non-coding RNA’s produced by circularization of exons through the back-splicing process. Here, taking advantage of Htt CAG knock-in mouse in vitro and in vivo models, we demonstrate a …
it, us, de
(code pays fourni par la source)
Accès ouvert
2022
book-chapter
OpenAlex
Michele Arnoldi, Giulia Zarantonello, Stefano Espinoza, Stefano Gustincich et autres
SINEUP is a new class of long non-coding RNAs (lncRNAs) which contain an inverted Short Interspersed Nuclear Element (SINE) B2 element (invSINEB2) necessary to specifically upregulate target gene translation. Originally identified in the mouse AS-Uchl1 (antisense Ubiquitin carboxyl-terminal esterase L1) locus, natural …
it
(code pays fourni par la source)