Zobrazeno 1 - 10
of 284
pro vyhledávání: '"R. Haeusler"'
Autor:
M. E. Cicardi, V. Kankate, S. Sriramoji, K. Krishnamurthy, S. S. Markandaiah, B. M. Verdone, A. Girdhar, A. Nelson, L. B. Rivas, A. Boehringer, A. R. Haeusler, P. Pasinelli, L. Guo, D. Trotti
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-14 (2024)
Abstract Expanded intronic G4C2 repeats in the C9ORF72 gene cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These intronic repeats are translated through a non-AUG-dependent mechanism into five different dipeptide repeat
Externí odkaz:
https://doaj.org/article/b72bdbd19e0042fc863c148adeca4f6b
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:
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:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract A nucleotide repeat expansion (NRE), (G4C2) n , located in a classically noncoding region of C9orf72 (C9), is the most common genetic mutation associated with ALS/FTD. There is increasing evidence that nucleic acid structures formed by the C
Externí odkaz:
https://doaj.org/article/edad8dd2960745fd93ffe1616ee95aa7
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:
Brigid K. Jensen, Kevin J. McAvoy, Nicolette M. Heinsinger, Angelo C. Lepore, Hristelina Ilieva, Aaron R. Haeusler, Davide Trotti, Piera Pasinelli
Publikováno v:
Glia. 70:1426-1449
Genetic mutations that cause amyotrophic lateral sclerosis (ALS), a progressively lethal motor neuron disease, are commonly found in ubiquitously expressed genes. In addition to direct defects within motor neurons, growing evidence suggests that dysf
Autor:
Piera Pasinelli, Aaron R. Haeusler, Nicolette M. Heinsinger, Davide Trotti, Brigid K. Jensen, Hristelina Ilieva, Angelo C. Lepore, Kevin McAvoy
Genetic mutations that cause Amyotrophic Lateral Sclerosis (ALS), a progressively lethal motor neuron disease, are commonly found in ubiquitously expressed genes. In addition to direct defects within motor neurons, growing evidence suggests that dysf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b09d606802a39619eb4402381c4d0691
https://doi.org/10.1101/2021.11.23.469650
https://doi.org/10.1101/2021.11.23.469650
G-quadruplexes offer a conserved structural motif for NONO recruitment to NEAT1 architectural lncRNA
Autor:
Adan Velasquez, Tao Zhang, Shraddha Teli, Jiou Wang, Hong-he Liu, Eric A J Simko, Aaron R. Haeusler
Publikováno v:
Nucleic Acids Research
The long non-coding RNA NEAT1 serves as a scaffold for the assembly of paraspeckles, membraneless nuclear organelles involved in gene regulation. Paraspeckle assembly requires NEAT1 recruitment of the RNA-binding protein NONO, however the NEAT1 eleme
Autor:
Katelyn Russell, Ashley Boehringer, Dieter Edbauer, Kevin McAvoy, Brigid K. Jensen, Thomas Westergard, Bridget M. Curran, Le Ma, Martin H Schuldi, Piera Pasinelli, Xinmei Wen, Karthik Krishnamurthy, Aaron R. Haeusler, Davide Trotti
Publikováno v:
EMBO molecular medicine 12(5), e10722 (2020). doi:10.15252/emmm.201910722
EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 12, Iss 5, Pp n/a-n/a (2020)
EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 12, Iss 5, Pp n/a-n/a (2020)
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‐associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73196be2a6ddf0e1abed144a6614902a