Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Barbara Terzic"'
Autor:
Sheng Tang, Barbara Terzic, I-Ting Judy Wang, Nicolas Sarmiento, Katherine Sizov, Yue Cui, Hajime Takano, Eric D. Marsh, Zhaolan Zhou, Douglas A. Coulter
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Mouse models of CDKL5 deficiency disorder (CDD) recapitulate multiple clinical symptoms of CDD, such as intellectual disability and autism. Here, the authors show that selective loss of CDKL5 from GABAergic neurons leads to social deficits and stereo
Externí odkaz:
https://doaj.org/article/fcc09e9d517f46139fc63936735506c3
Autor:
Barbara Terzic, Yue Cui, Andrew C. Edmondson, Sheng Tang, Nicolas Sarmiento, Daria Zaitseva, Eric D. Marsh, Douglas A. Coulter, Zhaolan Zhou
Publikováno v:
Neurobiology of Disease, Vol 148, Iss , Pp 105176- (2021)
CDKL5 deficiency disorder (CDD) is an infantile, epileptic encephalopathy presenting with early-onset seizures, intellectual disability, motor impairment, and autistic features. The disorder has been linked to mutations in the X-linked CDKL5, and mou
Externí odkaz:
https://doaj.org/article/bbfc407132014f8e9a4c34011aec79ba
Autor:
M. Felicia Davatolhagh, Marc V. Fuccillo, Zijie Xia, Sheng Tang, Barbara Terzic, Zhaolan Zhou, Yue Cui, Yugong Ho, Yu-Ting Liu
Publikováno v:
J Clin Invest
CDKL5 deficiency disorder (CDD) is an early onset, neurodevelopmental syndrome associated with pathogenic variants in the X-linked gene encoding cyclin-dependent kinase-like 5 (CDKL5). CDKL5 has been implicated in neuronal synapse maturation, yet its
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9439770cb824c3c3626bd3ea1edc3c8
https://pubmed.ncbi.nlm.nih.gov/34720088
https://pubmed.ncbi.nlm.nih.gov/34720088
Autor:
Sheng Tang, Andrew C. Edmondson, Eric D. Marsh, Barbara Terzic, Nicolas Sarmiento, Zhaolan Zhou, Yue Cui, Douglas A. Coulter, Daria Zaitseva
Publikováno v:
Neurobiol Dis
Neurobiology of Disease, Vol 148, Iss, Pp 105176-(2021)
Neurobiology of Disease, Vol 148, Iss, Pp 105176-(2021)
CDKL5 deficiency disorder (CDD) is an infantile, epileptic encephalopathy presenting with early-onset seizures, intellectual disability, motor impairment, and autistic features. The disorder has been linked to mutations in the X-linked CDKL5, and mou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16420ce4ed3dbdaa90cac6598688b5c8
https://doi.org/10.1016/j.nbd.2020.105176
https://doi.org/10.1016/j.nbd.2020.105176
Autor:
Jun Y. Lee, Barbara Terzic, Zhaolan Zhou, Sheng Tang, Hajime Takano, Douglas A. Coulter, Katarina Pance, I-Ting Judy Wang, Cuiyong Yue, Yue Cui
Cyclin-dependent kinase-like 5 (CDKL5) deficiency is a neurodevelopmental disorder characterized by epileptic seizures, severe intellectual disability, and autistic features. Mice lacking CDKL5 display multiple behavioral abnormalities reminiscent of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e32eb2b1f2f3a5682acf00b5d90821a
https://europepmc.org/articles/PMC5546111/
https://europepmc.org/articles/PMC5546111/
Autor:
Maria Dimitriadi, Anne C. Hart, Casey Cable, Barrington G. Burnett, Ajay B. Chitnis, Barbara Terzic, Kenneth H. Fischbeck, Deborah Y. Kwon
Publikováno v:
Molecular Biology of the Cell
Spinal muscular atrophy is caused by deficiency of the survival motor neuron (SMN) protein. We show that the E3 ubiquitin ligase, mind bomb 1 (Mib1), ubiquitinates and targets SMN for degradation. Reducing Mib1 increases SMN levels, and decreasing th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46b12153b9ce1cec6d13b964be4d1a75
https://doi.org/10.1091/mbc.e13-01-0042
https://doi.org/10.1091/mbc.e13-01-0042