Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Laura K. K. Pacey"'
Autor:
Lu-Yang Wang, Tian Kong, David R. Hampson, Enea Koxhioni, Yosuke Niibori, James H. Eubanks, Alexander W.M. Hooper, Shervin Gholizadeh, Jason Arsenault, Laura K. K. Pacey
Publikováno v:
Human Molecular Genetics
Several X-linked neurodevelopmental disorders including Rett syndrome, induced by mutations in the MECP2 gene, and fragile X syndrome (FXS), caused by mutations in the FMR1 gene, share autism-related features. The mRNA coding for methyl CpG binding p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5597bf9877fb975144e909fff1b7f96
https://doi.org/10.1093/hmg/ddaa226
https://doi.org/10.1093/hmg/ddaa226
Autor:
Laura K. K. Pacey, Mickael Krzeminski, Alaji Bah, Owen Y. Chao, David R. Hampson, Lu-Yang Wang, Julie D. Forman-Kay, Jason Arsenault, Yi Mei Yang, Adam Fekete, Alexander Wang
Publikováno v:
Molecular Psychiatry
Principal neurons encode information by varying their firing rate and patterns precisely fine-tuned through GABAergic interneurons. Dysregulation of inhibition can lead to neuropsychiatric disorders, yet little is known about the molecular basis unde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d1cf961bfa31a03eb4502d880077dba
https://pubmed.ncbi.nlm.nih.gov/30224722
https://pubmed.ncbi.nlm.nih.gov/30224722
Autor:
Hirokazu Hirai, Ayumu Konno, Enea Koxhioni, Yosuke Niibori, David R. Hampson, Shervin Gholizadeh, Sebok Kumar Halder, Laura K. K. Pacey, Jason Arsenault
Publikováno v:
Human Gene Therapy
Fragile X mental retardation protein (FMRP) is absent or highly reduced in Fragile X Syndrome, a genetic disorder causing cognitive impairment and autistic behaviors. Previous proof-of-principle studies have demonstrated that restoring FMRP in the br
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a83ff2ccc43a93521507a35a21dcb20e
https://pubmed.ncbi.nlm.nih.gov/27604541
https://pubmed.ncbi.nlm.nih.gov/27604541
Publikováno v:
Journal of Pharmacology and Experimental Therapeutics. 338:897-905
The most common cause of inherited mental retardation, fragile X syndrome, results from a triplet repeat expansion in the FMR1 gene and loss of the mRNA binding protein, fragile X mental retardation protein (FMRP). In the absence of FMRP, signaling t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5592aec1e92d73d1590942efcbb1d952
https://doi.org/10.1124/jpet.111.183327
https://doi.org/10.1124/jpet.111.183327
Publikováno v:
Biochemical Pharmacology. 81:1078-1086
Autism spectrum disorders (ASD) and Fragile X Syndrome (FXS) are neurodevelopmental disorders that share overlapping behavioral characteristics. While FXS is known to result from a specific genetic mutation, the causes of the majority of cases of ASD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::256d9fa9a2874f8bcda0471545fbcfdd
https://doi.org/10.1016/j.bcp.2011.02.005
https://doi.org/10.1016/j.bcp.2011.02.005
Publikováno v:
Molecular Pharmacology. 76:18-24
Mice lacking the gene encoding fragile X mental retardation protein (FMR1) are susceptible to audiogenic seizures, and antagonists of the group I metabotropic glutamate receptors (mGluRs) have been shown to block seizures in FMR1 knockout mice. We in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd64d68cbbfaac79a912736cdde98a56
https://doi.org/10.1124/mol.109.056127
https://doi.org/10.1124/mol.109.056127
Autor:
Laura K. K. Pacey, Laurie C. Doering
Publikováno v:
Glia. 55:1601-1609
One of the most common causes of mental retardation in humans, Fragile X syndrome, results from the absence of FMRP, the protein product of the FMR1 gene. In the nervous system, expression of FMRP has been thought to be confined mainly to neurons as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5723c02b3cbfdf181358c784de99e88b
https://doi.org/10.1002/glia.20573
https://doi.org/10.1002/glia.20573
Publikováno v:
Brain and Behavior
Background Fragile X Syndrome, the most common single gene cause of autism, results from loss of the RNA-binding protein FMRP. Although FMRP is highly expressed in neurons, it has also recently been identified in glia. It has been postulated that in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b72747042711d3dbb57fa4b0439e966f
https://pubmed.ncbi.nlm.nih.gov/26516618
https://pubmed.ncbi.nlm.nih.gov/26516618
Autor:
Jason Arsenault, Shervin Gholizadeh, David R. Hampson, Ingrid Cong Yang Xuan, Laura K. K. Pacey
Publikováno v:
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. 39(13)
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a trinucleotide repeat expansion in the FMR1 gene that codes for fragile X mental retardation protein (FMRP). To determine if FMRP expression in the central nervous system could reve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08dd4223db0dfe8fda49d7dc4822736f
https://pubmed.ncbi.nlm.nih.gov/24998620
https://pubmed.ncbi.nlm.nih.gov/24998620
Autor:
David R. Hampson, R. Mark Henkelman, Laura K. K. Pacey, Yan Chen, Ingrid Cong Yang Xuan, Dafna Sussman, Sihui Guan, Christian Thomsen
Publikováno v:
Human molecular genetics. 22(19)
Fragile X Syndrome is the most common inherited cause of autism. Fragile X mental retardation protein (FMRP), which is absent in fragile X, is an mRNA binding protein that regulates the translation of hundreds of different mRNA transcripts. In the ad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b1b9595bd6e5a8d935b8dfd88fb9b10
https://pubmed.ncbi.nlm.nih.gov/23740941
https://pubmed.ncbi.nlm.nih.gov/23740941