Zobrazeno 1 - 10
of 479
pro vyhledávání: '"Huda Y Zoghbi"'
Autor:
Sameer S Bajikar, Ashley G Anderson, Jian Zhou, Mark A Durham, Alexander J Trostle, Ying-Wooi Wan, Zhandong Liu, Huda Y Zoghbi
Publikováno v:
eLife, Vol 12 (2023)
Loss- and gain-of-function of MeCP2 causes Rett syndrome (RTT) and MECP2 duplication syndrome (MDS), respectively. MeCP2 binds methyl-cytosines to finely tune gene expression in the brain, but identifying genes robustly regulated by MeCP2 has been di
Externí odkaz:
https://doaj.org/article/6b82cfcf999546bdac0e75edf2ab2c99
Autor:
Meike E van der Heijden, Elizabeth P Lackey, Ross Perez, Fatma S Ișleyen, Amanda M Brown, Sarah G Donofrio, Tao Lin, Huda Y Zoghbi, Roy V Sillitoe
Publikováno v:
eLife, Vol 10 (2021)
Preterm infants that suffer cerebellar insults often develop motor disorders and cognitive difficulty. Excitatory granule cells, the most numerous neuron type in the brain, are especially vulnerable and likely instigate disease by impairing the funct
Externí odkaz:
https://doaj.org/article/5f131a2ee7554ae09af6547cd0701e54
Autor:
Nathan P Achilly, Ling-jie He, Olivia A Kim, Shogo Ohmae, Gregory J Wojaczynski, Tao Lin, Roy V Sillitoe, Javier F Medina, Huda Y Zoghbi
Publikováno v:
eLife, Vol 10 (2021)
Rett syndrome is a devastating childhood neurological disorder caused by mutations in MECP2. Of the many symptoms, motor deterioration is a significant problem for patients. In mice, deleting Mecp2 from the cortex or basal ganglia causes motor dysfun
Externí odkaz:
https://doaj.org/article/d3b24f10375f4471b540a38aeb3943f0
Autor:
Callison E Alcott, Hari Krishna Yalamanchili, Ping Ji, Meike E van der Heijden, Alexander Saltzman, Nathan Elrod, Ai Lin, Mei Leng, Bhoomi Bhatt, Shuang Hao, Qi Wang, Afaf Saliba, Jianrong Tang, Anna Malovannaya, Eric J Wagner, Zhandong Liu, Huda Y Zoghbi
Publikováno v:
eLife, Vol 9 (2020)
We previously showed that NUDT21-spanning copy-number variations (CNVs) are associated with intellectual disability (Gennarino et al., 2015). However, the patients’ CNVs also included other genes. To determine if reduced NUDT21 function alone can c
Externí odkaz:
https://doaj.org/article/31585665f6474631989096c543a84a1e
Autor:
Laura A Lavery, Kerstin Ure, Ying-Wooi Wan, Chongyuan Luo, Alexander J Trostle, Wei Wang, Haijing Jin, Joanna Lopez, Jacinta Lucero, Mark A Durham, Rosa Castanon, Joseph R Nery, Zhandong Liu, Margaret Goodell, Joseph R Ecker, M Margarita Behrens, Huda Y Zoghbi
Publikováno v:
eLife, Vol 9 (2020)
Methylated cytosine is an effector of epigenetic gene regulation. In the brain, Dnmt3a is the sole ‘writer’ of atypical non-CpG methylation (mCH), and MeCP2 is the only known ‘reader’ for mCH. We asked if MeCP2 is the sole reader for Dnmt3a d
Externí odkaz:
https://doaj.org/article/b078fc09c47f4ff18e2e3557478a806d
Autor:
Wu Chen, Zhao-Lin Cai, Eugene S Chao, Hongmei Chen, Colleen M Longley, Shuang Hao, Hsiao-Tuan Chao, Joo Hyun Kim, Jessica E Messier, Huda Y Zoghbi, Jianrong Tang, John W Swann, Mingshan Xue
Publikováno v:
eLife, Vol 9 (2020)
Mutations in genes encoding synaptic proteins cause many neurodevelopmental disorders, with the majority affecting postsynaptic apparatuses and much fewer in presynaptic proteins. Syntaxin-binding protein 1 (STXBP1, also known as MUNC18-1) is an esse
Externí odkaz:
https://doaj.org/article/5451bf743be645e0ad751bf6c73b334d
Autor:
Xiangling Meng, Christopher M McGraw, Wei Wang, Junzhan Jing, Szu-Ying Yeh, Li Wang, Joanna Lopez, Amanda M Brown, Tao Lin, Wu Chen, Mingshan Xue, Roy V Sillitoe, Xiaolong Jiang, Huda Y Zoghbi
Publikováno v:
eLife, Vol 8 (2019)
Neurexophilins are secreted neuropeptide-like glycoproteins, and neurexophilin1 and neurexophilin3 are ligands for the presynaptic cell adhesion molecule α-neurexin. Neurexophilins are more selectively expressed in the brain than α-neurexins, howev
Externí odkaz:
https://doaj.org/article/ee4b5412662f4e2b8cf2bc5b400ed7db
Publikováno v:
eLife, Vol 7 (2018)
The Mecp2+/- mouse model recapitulates many phenotypes of patients with Rett syndrome (RTT), including learning and memory deficits. It is unknown, however, how the disease state alters memory circuit functions in vivo in RTT mice. Here we recorded f
Externí odkaz:
https://doaj.org/article/56bf96e319d64501812ab4a3d363b0f8
Autor:
Meike E van der Heijden, Huda Y Zoghbi
Publikováno v:
eLife, Vol 7 (2018)
Atoh1-null mice die at birth from respiratory failure, but the precise cause has remained elusive. Loss of Atoh1 from various components of the respiratory circuitry (e.g. the retrotrapezoid nucleus (RTN)) has so far produced at most 50% neonatal let
Externí odkaz:
https://doaj.org/article/6adb9acd39b14cd6b69cc99f9611c224
Autor:
Maxime WC Rousseaux, Jean-Pierre Revelli, Gabriel E Vázquez-Vélez, Ji-Yoen Kim, Evelyn Craigen, Kristyn Gonzales, Jaclyn Beckinghausen, Huda Y Zoghbi
Publikováno v:
eLife, Vol 7 (2018)
Alzheimer's and Parkinson's disease are late onset neurodegenerative diseases that will require therapy over decades to mitigate the effects of disease-driving proteins such tau and α-synuclein (α-Syn). Previously we found that TRIM28 regulates the
Externí odkaz:
https://doaj.org/article/9179566631054bf29ed0cce0e8d7d3e3