Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Craig M Powell"'
Autor:
Qiang-Qiang Xia, Angela K Walker, Chenghui Song, Jing Wang, Anju Singh, James A Mobley, Zhong X Xuan, Jeffrey D Singer, Craig M Powell
Publikováno v:
PLoS ONE, Vol 18, Iss 7, p e0283299 (2023)
Autism Spectrum Disorder (ASD) is a developmental disorder in which children display repetitive behavior, restricted range of interests, and atypical social interaction and communication. CUL3, coding for a Cullin family scaffold protein mediating as
Externí odkaz:
https://doaj.org/article/3822b5b797b9457ab8bef3f0813fc6a5
Autor:
Cemre Celen, Jen-Chieh Chuang, Xin Luo, Nadine Nijem, Angela K Walker, Fei Chen, Shuyuan Zhang, Andrew S Chung, Liem H Nguyen, Ibrahim Nassour, Albert Budhipramono, Xuxu Sun, Levinus A Bok, Meriel McEntagart, Evelien F Gevers, Shari G Birnbaum, Amelia J Eisch, Craig M Powell, Woo-Ping Ge, Gijs WE Santen, Maria Chahrour, Hao Zhu
Publikováno v:
eLife, Vol 6 (2017)
Sequencing studies have implicated haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders
Externí odkaz:
https://doaj.org/article/ed40f28284084f4c913b487a3f35a670
Autor:
Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals
Externí odkaz:
https://doaj.org/article/c7f7dd3f29da4a4e89819f90781e8706
Publikováno v:
Frontiers in Synaptic Neuroscience, Vol 7 (2015)
ABSTRACTTogether with its presynaptic partner Neurexin 1 (Nxn1), Neuroligin 1 (NL1) participates in synapse specification and synapse maintenance. We and others have shown that NL1 can also modulate glutamatergic synaptic function in the central nerv
Externí odkaz:
https://doaj.org/article/d1d2b52ba6cd4a1bb7485b591f0d2564
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0140638 (2015)
A single, maternally inherited, X-linked point mutation leading to an arginine to cysteine substitution at amino acid 451 (R451C) of Neuroligin 3 (NLGN3R451C) is a likely cause of autism in two brothers. Knockin mice expressing the Nlgn3R451C mutatio
Externí odkaz:
https://doaj.org/article/672808c055e142e080869cdecd078b5a
Autism risk gene Cul3 alters neuronal morphology via caspase-3 activity in mouse hippocampal neurons
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 18 (2024)
Autism Spectrum Disorders (ASDs) are neurodevelopmental disorders (NDDs) in which children display differences in social interaction/communication and repetitive stereotyped behaviors along with variable associated features. Cul3, a gene linked to AS
Externí odkaz:
https://doaj.org/article/b9774902bf764aa3bff2635fdb873842
Autor:
Ammar H Hawasli, Della Koovakkattu, Kanehiro Hayashi, Anne E Anderson, Craig M Powell, Christopher M Sinton, James A Bibb, Donald C Cooper
Publikováno v:
PLoS ONE, Vol 4, Iss 6, p e5808 (2009)
Cyclin-dependent kinase 5 (Cdk5) is a proline-directed serine/threonine kinase that has been implicated in learning, synaptic plasticity, neurotransmission, and numerous neurological disorders. We previously showed that conditional loss of Cdk5 in ad
Externí odkaz:
https://doaj.org/article/f6e00f15a2664251b87080ef205c2063
Autor:
Kleanthi Chalkiadaki, Elpida Statoulla, Maria Zafeiri, Nabila Haji, Jean-Claude Lacaille, Craig M. Powell, Seyed Mehdi Jafarnejad, Arkady Khoutorsky, Christos G. Gkogkas
Publikováno v:
Chalkiadaki, K, Statoulla, E, Zafeiri, M, Haji, N, Lacaille, J-C, Powell, C M, Jafarnejad, S M, Khoutorsky, A & Gkogkas, C G 2023, ' Reversal of memory and autism-related phenotypes in Tsc2 +/− mice via inhibition of Nlgn1 ', Frontiers in Cell and Developmental Biology, vol. 11 . https://doi.org/10.3389/fcell.2023.1205112
Tuberous sclerosis complex (TSC) is a rare monogenic disorder co-diagnosed with high rates of autism and is caused by loss of function mutations in the TSC1 or TSC2 genes. A key pathway hyperactivated in TSC is the mammalian/mechanistic target of rap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59aaedfa2bc63c608afba00cf2f0da5a
https://pure.qub.ac.uk/en/publications/dc27c5da-8df1-4964-b818-a5442aab50c8
https://pure.qub.ac.uk/en/publications/dc27c5da-8df1-4964-b818-a5442aab50c8
Publikováno v:
Neuron. 110(9)
Genetic and environmental factors during development are involved in autism, and in this issue of Neuron Krüttner et al. (2022) find environment may play a more acute role in modulating autism behavior in a Shank3 exon 21 deletion mutant mouse (Shan
Autor:
Guang Ren, Patrick Tae Joon Hwang, Reid Millican, Juhee Shin, Brigitta C. Brott, Thomas van Groen, Craig M. Powell, Sushant Bhatnagar, Martin E. Young, Ho-Wook Jun, Jeong-a Kim
Publikováno v:
ACS Appl Mater Interfaces
Nitric oxide (NO) is a gaseous signaling molecule, which plays crucial roles in various biological processes, including inflammatory responses, metabolism, cardiovascular functions, and cognitive function. NO bioavailability is reduced with aging and