Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Davide Trotti"'
Autor:
Chiara Scopa, Samantha M. Barnada, Maria E. Cicardi, Mo Singer, Davide Trotti, Marco Trizzino
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Adult neurogenic decline, inflammation, and neurodegeneration are phenotypic hallmarks of Alzheimer’s disease (AD). Mobilization of transposable elements (TEs) in heterochromatic regions was recently reported in AD, but the underlying mech
Externí odkaz:
https://doaj.org/article/4512ae3de9b742d5a9a921bd03292325
Autor:
Mark W Urban, Brittany A Charsar, Nicolette M Heinsinger, Shashirekha S Markandaiah, Lindsay Sprimont, Wei Zhou, Eric V Brown, Nathan T Henderson, Samantha J Thomas, Biswarup Ghosh, Rachel E Cain, Davide Trotti, Piera Pasinelli, Megan C Wright, Matthew B Dalva, Angelo C Lepore
Publikováno v:
eLife, Vol 12 (2024)
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by motor neuron loss. Importantly, non-neuronal cell types such as astrocytes also play significant roles in disease pathogenesis. However, mechanisms of astrocyte contr
Externí odkaz:
https://doaj.org/article/018e0a8bf2cb4c7db4d6c298aaf9f962
Autor:
Francesco Antoniani, Marco Cimino, Laura Mediani, Jonathan Vinet, Enza M. Verde, Valentina Secco, Alfred Yamoah, Priyanka Tripathi, Eleonora Aronica, Maria E. Cicardi, Davide Trotti, Jared Sterneckert, Anand Goswami, Serena Carra
Publikováno v:
Cell Death Discovery, Vol 9, Iss 1, Pp 1-16 (2023)
Abstract Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) are two neurodegenerative disorders that share genetic causes and pathogenic mechanisms. The critical genetic players of ALS and FTD are the TARDBP, FUS and C9orf72 genes,
Externí odkaz:
https://doaj.org/article/6a9ffd2c23cc47febd11d60c19088ee9
Publikováno v:
iScience, Vol 26, Iss 6, Pp 106959- (2023)
Summary: The (G4C2)n nucleotide repeat expansion (NRE) mutation in C9orf72 is the most common genetic cause of ALS and FTD. The biological functions of C9orf72 are becoming understood, but it is unclear if this gene is regulated in a neural-specific
Externí odkaz:
https://doaj.org/article/78e90fa33626418c94ba0b12df73e0b4
Autor:
Amanda M. Gleixner, Brandie Morris Verdone, Charlton G. Otte, Eric N. Anderson, Nandini Ramesh, Olivia R. Shapiro, Jenna R. Gale, Jocelyn C. Mauna, Jacob R. Mann, Katie E. Copley, Elizabeth L. Daley, Juan A. Ortega, Maria Elena Cicardi, Evangelos Kiskinis, Julia Kofler, Udai B. Pandey, Davide Trotti, Christopher J. Donnelly
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
ALS and FTLD are both characterized by insoluble cytoplasmic depositions of TDP43. Here the authors show that the nucleopore protein NUP62 is mislocalized in C9orf72 and sporadic ALS/FTLD and propose that it interacts with TDP-43 to promote its insol
Externí odkaz:
https://doaj.org/article/04c38fed278645e2a4a1f52a4ea229f4
Autor:
Brandie Morris Verdone, Maria Elena Cicardi, Xinmei Wen, Sindhu Sriramoji, Katelyn Russell, Shashirekha S. Markandaiah, Brigid K. Jensen, Karthik Krishnamurthy, Aaron R. Haeusler, Piera Pasinelli, Davide Trotti
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)
Abstract Translation of the hexanucleotide G4C2 expansion associated with C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD) produces five different dipeptide repeat protein (DPR) species that can confer toxicity. There is ye
Externí odkaz:
https://doaj.org/article/19ca21d95d3242fdb4694723b5e2de9e
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease that leads to the death of motor and cortical neurons. The clinical manifestations of ALS are heterogenous, and efficacious treatments to significantly slow the pro
Externí odkaz:
https://doaj.org/article/a6ee59e3606b42deaacd5ea9fd863073
Autor:
Brigid K Jensen, Martin H Schuldi, Kevin McAvoy, Katelyn A Russell, Ashley Boehringer, Bridget M Curran, Karthik Krishnamurthy, Xinmei Wen, Thomas Westergard, Le Ma, Aaron R Haeusler, Dieter Edbauer, Piera Pasinelli, Davide Trotti
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 5, Pp n/a-n/a (2020)
Abstract The most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is an intronic hexanucleotide repeat expansion in the C9orf72 gene. In disease, RNA transcripts containing this expanded region undergo repeat‐a
Externí odkaz:
https://doaj.org/article/2b844e943b33490cb8b38258496834ea
Autor:
Thomas Westergard, Brigid K. Jensen, Xinmei Wen, Jingli Cai, Elizabeth Kropf, Lorraine Iacovitti, Piera Pasinelli, Davide Trotti
Publikováno v:
Cell Reports, Vol 17, Iss 3, Pp 645-652 (2016)
Aberrant hexanucleotide repeat expansions in C9orf72 are the most common genetic change underlying amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). RNA transcripts containing these expansions undergo repeat-associated non-ATG tr
Externí odkaz:
https://doaj.org/article/2e4fc1c1a2374d1da63375d78adcbdcb
Repeat‐associated non‐AUG translation in C9orf72‐ALS/FTD is driven by neuronal excitation and stress
Autor:
Thomas Westergard, Kevin McAvoy, Katelyn Russell, Xinmei Wen, Yu Pang, Brandie Morris, Piera Pasinelli, Davide Trotti, Aaron Haeusler
Publikováno v:
EMBO Molecular Medicine, Vol 11, Iss 2, Pp n/a-n/a (2019)
Abstract Nucleotide repeat expansions (NREs) are prevalent mutations in a multitude of neurodegenerative diseases. Repeat‐associated non‐AUG (RAN) translation of these repeat regions produces mono or dipeptides that contribute to the pathogenesis
Externí odkaz:
https://doaj.org/article/357cba24d5134eb4b3da6cedf90a1fe5