Accès ouvert
2026
article
OpenAlex
Joana Petrescu, Cláudio Gouveia Roque, Christopher A. Jackson, Aidan C. Daly et autres
Cognitive manifestations, including impairments in language and executive functions, are seen in amyotrophic lateral sclerosis (ALS), but the underlying mechanisms remain unclear. We mapped prefrontal cortex regions from ALS patients by integrating spatial and single-nucleus transcriptomics in a cognitively stratified patient cohort. …
us, gb, ch
(code pays fourni par la source)
Accès ouvert
2026
preprint
OpenAlex
Isobel Bolger, Regina Shaw, Oliver H. Tam, Cláudio Gouveia Roque et autres
TDP-43 is an RNA and DNA binding protein that plays major roles in regulating RNA processing. In particular, TDP-43 dysfunction leads to the accumulation of cryptic splice isoforms that result from improperly spliced mRNAs. In addition to its role in regulating splicing, …
us, gb
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Alejandro Luarte, Javiera Andrea Ojeda Gallardo, Daniela Corvalán, Ankush Chakraborty et autres
The regenerative potential of developing cortical axons depends on intrinsic mechanisms, such as axon-autonomous protein synthesis, that are still not fully understood. An emerging factor in this regenerative response is the bidirectional interplay between microtubule dynamics and the axonal ER. We hypothesize …
bo, cl, us, de
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Zoé Butti, Christopher A. Jackson, Cláudio Gouveia Roque, Pedro Machado Almeida et autres
Abstract Description Abnormal protein aggregation is a central pathological feature of neurodegenerative diseases (PMID: 30258241), notably observed in Amyotrophic Lateral Sclerosis (ALS), with 97% of cases presenting TAR DNA-binding protein 43 (TDP-43) aggregation (PMID: 17469116). Cytoplasmic TDP-43 inclusions manifest not only in …
us
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Accès ouvert
2025
article
OpenAlex
Maximilian Cabaj, Pietro Giuseppe Mazzara, Zachary Gaertner, Ruizhi Wang et autres
The protein α-synuclein, encoded by SNCA, accumulates in Parkinson's disease (PD) and other synucleinopathies for reasons that remain unclear. Here, we investigated whether SNCA is regulated in vivo by the RNA-binding protein PUM1. We establish that PUM1 binds to SNCA's 3' UTR …
us
(code pays fourni par la source)
Accès ouvert
2025
preprint
OpenAlex
Raphaelle Cassel, Félicie Lorenc, Aurélie Bombardier, Claudia De Tapia et autres
Summary Cognitive and behavioral impairment affects up to half of individuals with amyotrophic lateral sclerosis (ALS), but their molecular origin remains unresolved. Here, we identify mislocalization of the RNA-binding protein FUS in cortical neurons as a defining feature in ALS patients with …
fr, us, it, gb
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Accès ouvert
2025
article
OpenAlex
Krystal Herline, Michaela M Pauers, Jessica E. Lipponen, Michael A. Zrzavy et autres
Abstract Alzheimer’s disease (AD) pathology includes transcriptional changes in the neurons, which are in part caused by the heterodimerization of two stress response transcription factors, CREB3L2 and ATF4. We investigated the role of proteasome inhibition and the eIF2α-kinase HRI in the formation …
us
(code pays fourni par la source)
Accès ouvert
2025
preprint
OpenAlex
Joana Petrescu, Cláudio Gouveia Roque, Christopher A. Jackson, Aidan C. Daly et autres
Cognitive manifestations, including impairment in language and executive functions, are seen in amyotrophic lateral sclerosis (ALS), but the mechanisms that underlie these deficits remain unclear. To address this, we mapped prefrontal cortex regions from ALS patients by integrating spatial and single-nucleus transcriptomics …
us, gb, no
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Cláudio Gouveia Roque, Hemali Phatnani, Ulrich Hengst
The complex pathobiology of late-onset Alzheimer's disease (AD) poses significant challenges to therapeutic and preventative interventions. Despite these difficulties, genomics and related disciplines are allowing fundamental mechanistic insights to emerge with clarity, particularly with the introduction of high-resolution sequencing technologies. After all, …
us
(code pays fourni par la source)
Accès ouvert
2023
article
OpenAlex
Cláudio Gouveia Roque, Kyung Min Chung, Ethan P. McCurdy, Radhika Jagannathan et autres
Gene expression is changed by disease, but how these molecular responses arise and contribute to pathophysiology remains less understood. We discover that β-amyloid, a trigger of Alzheimer's disease (AD), promotes the formation of pathological CREB3L2-ATF4 transcription factor heterodimers in neurons. Through a …
us, es
(code pays fourni par la source)
Accès ouvert
2022
article
OpenAlex
Kyung Min Chung, Hyunha Kim, Cláudio Gouveia Roque, Ethan P. McCurdy et autres
Cells possess several conserved adaptive mechanisms to respond to stress. Stress signaling is initiated to reestablish cellular homeostasis, but its effects on the tissue or systemic levels are far less understood. We report that the secreted luminal domain of the endoplasmic reticulum …
us
(code pays fourni par la source)
2021
article
OpenAlex
Radhika Jagannathan, Cláudio Gouveia Roque, Ulrich Hengst
To determine how ATF4 transcription factor heterodimers regulate gene expression changes in Parkinson’s disease (PD).
us
(code pays fourni par la source)