Zobrazeno 1 - 10
of 42
pro vyhledávání: '"ChangHui Pak"'
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Neural organoids have emerged as valuable tools for studying the developing brain, sparking enthusiasm and driving their adoption in disease modeling, drug screening, and investigating fetal neural development. The increasing popularity of neural org
Externí odkaz:
https://doaj.org/article/eee9fa775c064c968aa99ba976cf086f
Autor:
Rebecca Sebastian, Kang Jin, Narciso Pavon, Ruby Bansal, Andrew Potter, Yoonjae Song, Juliana Babu, Rafael Gabriel, Yubing Sun, Bruce Aronow, ChangHui Pak
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Abstract De novo mutations and copy number deletions in NRXN1 (2p16.3) pose a significant risk for schizophrenia (SCZ). It is unclear how NRXN1 deletions impact cortical development in a cell type-specific manner and disease background modulates thes
Externí odkaz:
https://doaj.org/article/e571cbcb7f474cc796ac1dd866a62466
Publikováno v:
iScience, Vol 25, Iss 10, Pp 105187- (2022)
Summary: Loss-of-function (LOF) mutations in CASK cause severe developmental phenotypes, including microcephaly with pontine and cerebellar hypoplasia, X-linked intellectual disability, and autism. Unraveling the pathological mechanisms of CASK-relat
Externí odkaz:
https://doaj.org/article/b92b4bb0925a431f918f66319f34bc34
Autor:
Rick S. Bienkowski, Ayan Banerjee, J. Christopher Rounds, Jennifer Rha, Omotola F. Omotade, Christina Gross, Kevin J. Morris, Sara W. Leung, ChangHui Pak, Stephanie K. Jones, Michael R. Santoro, Stephen T. Warren, James Q. Zheng, Gary J. Bassell, Anita H. Corbett, Kenneth H. Moberg
Publikováno v:
Cell Reports, Vol 20, Iss 6, Pp 1372-1384 (2017)
The Drosophila dNab2 protein is an ortholog of human ZC3H14, a poly(A) RNA binding protein required for intellectual function. dNab2 supports memory and axon projection, but its molecular role in neurons is undefined. Here, we present a network of in
Externí odkaz:
https://doaj.org/article/04da1a1516b5427eb44d99b3fc79f925
Autor:
Soham Chanda, Cheen Euong Ang, Jonathan Davila, ChangHui Pak, Moritz Mall, Qian Yi Lee, Henrik Ahlenius, Seung Woo Jung, Thomas C. Südhof, Marius Wernig
Publikováno v:
Stem Cell Reports, Vol 3, Iss 2, Pp 282-296 (2014)
Direct conversion of nonneural cells to functional neurons holds great promise for neurological disease modeling and regenerative medicine. We previously reported rapid reprogramming of mouse embryonic fibroblasts (MEFs) into mature induced neuronal
Externí odkaz:
https://doaj.org/article/0b12c0647c8849d4aed6bb170936af84
Publikováno v:
Frontiers in Genetics; 2024, p1-16, 16p
Autor:
Pepper Dawes, Liam F. Murray, Meagan N. Olson, Nathaniel J. Barton, Molly Smullen, Madhusoodhanan Suresh, Guang Yan, Yucheng Zhang, Aria Fernandez-Fontaine, Jay English, Mohammed Uddin, ChangHui Pak, George M. Church, Yingleong Chan, Elaine T. Lim
Publikováno v:
Human Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e338a2b1ae745e7881339897d705ba20
https://doi.org/10.1007/s00439-023-02534-4
https://doi.org/10.1007/s00439-023-02534-4
Autor:
Le Wang, Vincent R. Mirabella, Rujia Dai, Xiao Su, Ranjie Xu, Azadeh Jadali, Matteo Bernabucci, Ishnoor Singh, Yu Chen, Jianghua Tian, Peng Jiang, Kevin Y. Kwan, ChangHui Pak, Chunyu Liu, Davide Comoletti, Ronald P. Hart, Chao Chen, Thomas C. Südhof, Zhiping P. Pang
Publikováno v:
Molecular Psychiatry.
Mutations in many synaptic genes are associated with autism spectrum disorders (ASDs), suggesting that synaptic dysfunction is a key driver of ASD pathogenesis. Among these mutations, the R451C-substitution in the NLGN3 gene that encodes the postsyna
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb7d16301586fb64023514cc96ad2d4a
https://doi.org/10.1038/s41380-022-01834-x
https://doi.org/10.1038/s41380-022-01834-x
Autor:
Marc V. Fuccillo, ChangHui Pak
Publikováno v:
Curr Opin Genet Dev
Neurexins are central to trans-synaptic cell adhesion and signaling during synapse specification and maintenance. The past two decades of human genetics research have identified structural variations in the neurexin gene family, in particular NRXN1 c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b57401280c418fe5aff36e900754d009
https://doi.org/10.1016/j.gde.2021.02.010
https://doi.org/10.1016/j.gde.2021.02.010
Autor:
Rebecca Sebastian, Kang Jin, Narciso Pavon, Ruby Bansal, Andrew Potter, Yoonjae Song, Juliana Babu, Rafael Gabriel, Yubing Sun, Bruce Aronow, ChangHui Pak
De novomutations and copy number deletions inNRXN1(2p16.3) pose a significant risk for schizophrenia (SCZ). It is unclear howNRXN1deletions impact cortical development in a cell type-specific manner and disease background modulates these phenotypes.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::742bd2d49d80e38fa7c8032c0a4f1603
https://doi.org/10.1101/2022.08.24.505165
https://doi.org/10.1101/2022.08.24.505165
