Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Kevin McAvoy"'
Autor:
Nicole M. Sayles, Nneka Southwell, Kevin McAvoy, Kihwan Kim, Alba Pesini, Corey J. Anderson, Catarina Quinzii, Suzanne Cloonan, Hibiki Kawamata, Giovanni Manfredi
Publikováno v:
Cell Reports, Vol 38, Iss 10, Pp 110475- (2022)
Summary: Mitochondrial cardiomyopathies are fatal diseases, with no effective treatment. Alterations of heart mitochondrial function activate the mitochondrial integrated stress response (ISRmt), a transcriptional program affecting cell metabolism, m
Externí odkaz:
https://doaj.org/article/5012e15c8bdc4baf984db05e7aaa986a
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
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
Autor:
Zak Doric, Ken Nakamura, Mai K. Nguyen, Giovanni Manfredi, Kevin McAvoy, Iris Lo, Huihui Li, Szu-Chi Liao
Publikováno v:
Human molecular genetics, vol 31, iss 9
Hum Mol Genet
Hum Mol Genet
Mutations in the mitochondrial protein CHCHD2 cause autosomal-dominant PD characterized by the preferential loss of substantia nigra dopamine (DA) neurons. Therefore, understanding the function of CHCHD2 in neurons may provide vital insights into how
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b66cf5700bbfa8545d915e688d50a655
https://escholarship.org/uc/item/7984b8kk
https://escholarship.org/uc/item/7984b8kk
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
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
Publikováno v:
Glia
Mutations in fused in sarcoma (FUS) are linked to amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease affecting both upper and lower motor neurons. While it is established that astrocytes contribute to the death of motor neurons in
Autor:
Jean Philippe Richard, Kevin McAvoy, Shashirekha S. Markandaiah, Mark Sarlo, Piera Pasinelli, Hisham Qosa, Nicholas J. Maragakis, Davide Trotti, Michael R. Jablonski, Jessica Lichter
Publikováno v:
Glia. 64:1298-1313
The efficacy of drugs targeting the CNS is influenced by their limited brain access, which can lead to complete pharmacoresistance. Recently a tissue-specific and selective upregulation of the multidrug efflux transporter ABCB1 or P-glycoprotein (P-g
Autor:
Hibiki Kawamata, Kevin McAvoy
Publikováno v:
Molecular and Cellular Neuroscience. 101:103417
Mitochondria play essential metabolic roles in neural cells. Mitochondrial dysfunction has profound effects on the brain. In primary mitochondrial diseases, mutations that impair specific oxidative phosphorylation (OXPHOS) proteins or OXPHOS assembly
Autor:
Hisham, Qosa, Jessica, Lichter, Mark, Sarlo, Shashirekha S, Markandaiah, Kevin, McAvoy, Jean-Philippe, Richard, Michael R, Jablonski, Nicholas J, Maragakis, Piera, Pasinelli, Davide, Trotti
Publikováno v:
Glia. 64(8)
The efficacy of drugs targeting the CNS is influenced by their limited brain access, which can lead to complete pharmacoresistance. Recently a tissue-specific and selective upregulation of the multidrug efflux transporter ABCB1 or P-glycoprotein (P-g