Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Gaston, Calfa"'
Autor:
Jennifer Larimore, Pearl V Ryder, Kun-Yong Kim, L Alex Ambrose, Christopher Chapleau, Gaston Calfa, Christina Gross, Gary J Bassell, Lucas Pozzo-Miller, Yoland Smith, Konrad Talbot, In-Hyun Park, Victor Faundez
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e65069 (2013)
Clinical, epidemiological, and genetic evidence suggest overlapping pathogenic mechanisms between autism spectrum disorder (ASD) and schizophrenia. We tested this hypothesis by asking if mutations in the ASD gene MECP2 which cause Rett syndrome affec
Externí odkaz:
https://doaj.org/article/e5e9c45d4bc141f79c492ef9d2530021
Autor:
Christopher A. Chapleau, Elena Maria Boggio, Gaston Calfa, Alan K. Percy, Maurizio Giustetto, Lucas Pozzo-Miller
Publikováno v:
Neural Plasticity, Vol 2012 (2012)
Alterations in dendritic spines have been documented in numerous neurodevelopmental disorders, including Rett Syndrome (RTT). RTT, an X chromosome-linked disorder associated with mutations in MECP2, is the leading cause of intellectual disabilities
Externí odkaz:
https://doaj.org/article/f392644bc0b540778fd47b6cb9a52a61
Publikováno v:
Hippocampus. 25:159-168
Rett syndrome (RTT) is a neurodevelopment disorder associated with intellectual disabilities and caused by loss-of-function mutations in the gene encoding the transcriptional regulator Methyl-CpG-binding Protein-2 (MeCP2). Neuronal dysfunction and ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57ee402855f1f4ab2a97fd8303360395
https://doi.org/10.1002/hipo.22360
https://doi.org/10.1002/hipo.22360
Publikováno v:
Proceedings of the National Academy of Sciences. 109:17087-17092
Dysfunction of the neurotrophin brain-derived neurotrophic factor (BDNF) is implicated in Rett syndrome (RTT), but the state of its releasable pool and downstream signaling in mice lacking methyl-CpG-binding protein-2 ( Mecp2 ) is unknown. Here, we s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8c650625f6f7ea7561dd21f6d00eaf6
https://doi.org/10.1073/pnas.1205271109
https://doi.org/10.1073/pnas.1205271109
Publikováno v:
Journal of Neurophysiology. 105:1768-1784
Dysfunctions of neuronal and network excitability have emerged as common features in disorders associated with intellectual disabilities, autism, and seizure activity, all common clinical manifestations of Rett syndrome (RTT), a neurodevelopmental di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::083ede1116752896416f08251904d9a1
https://doi.org/10.1152/jn.00800.2010
https://doi.org/10.1152/jn.00800.2010
Publikováno v:
Experimental Biology and Medicine. 236:3-19
Rett syndrome (RTT) is a neurodevelopmental disorder predominantly occurring in females with an incidence of 1:10,000 births and caused by sporadic mutations in the MECP2 gene, which encodes methyl-CpG-binding protein-2, an epigenetic transcription f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c08114fa47cfaa3e19467e684865802
https://doi.org/10.1258/ebm.2010.010261
https://doi.org/10.1258/ebm.2010.010261
Publikováno v:
Journal of Neurophysiology. 103:2846-2856
Multiple studies have demonstrated that brain-derived neurotrophic factor (BDNF) is a potent modulator of neuronal structure and function in the hippocampus. However, the majority of studies to date have relied on the application of recombinant BDNF.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::902859975e70f3e44b5e1dc8b7dacbb2
https://doi.org/10.1152/jn.01140.2009
https://doi.org/10.1152/jn.01140.2009
Autor:
Alan K. Percy, Shinichi Kudo, Gaston Calfa, Lucas Pozzo-Miller, Jennifer L. Larimore, Dawna L. Armstrong, Asher J. Albertson, Christopher A. Chapleau, Meredith C. Lane
Publikováno v:
Neurobiology of Disease, Vol 35, Iss 2, Pp 219-233 (2009)
Rett syndrome (RTT) is an X chromosome-linked neurodevelopmental disorder associated with the characteristic neuropathology of dendritic spines common in diseases presenting with mental retardation (MR). Here, we present the first quantitative analys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d731d8a0b51be712021abfe3094b544d
http://www.sciencedirect.com/science/article/pii/S0969996109000990
http://www.sciencedirect.com/science/article/pii/S0969996109000990
Publikováno v:
Hippocampus. 25(2)
Rett syndrome (RTT) is a neurodevelopment disorder associated with intellectual disabilities and caused by loss-of-function mutations in the gene encoding the transcriptional regulator Methyl-CpG-binding Protein-2 (MeCP2). Neuronal dysfunction and ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2973e16ba69102cbcc1a61785e4cc4ee
https://pubmed.ncbi.nlm.nih.gov/25209930
https://pubmed.ncbi.nlm.nih.gov/25209930
Chapter 5 reviews the features of Rett syndrome (RTT) and its genetic bases, as well as the role of MECP2 in neurodevelopment at the clinical as well as molecular and cellular levels, exploring potential neurobiological mechanisms shared with other a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b47f71c3ec3f1dbd81b4359d2126c8d0
https://doi.org/10.1093/med/9780199744312.003.0005
https://doi.org/10.1093/med/9780199744312.003.0005
