Zobrazeno 1 - 10
of 69
pro vyhledávání: '"cyclin‐dependent kinase‐like 5"'
Autor:
Sam Amin, Rikke S. Møller, Angel Aledo‐Serrano, Alexis Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López‐Cabeza, Rima Nabbout, Carol‐Anne Partridge, Susanne Schubert‐Bast, Nicola Specchio, Reetta Kälviäinen
Publikováno v:
Epilepsia Open, Vol 9, Iss 3, Pp 832-849 (2024)
Abstract Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The disorder is characterized by intractable early‐onset seizures, severe neurodevel
Externí odkaz:
https://doaj.org/article/e1b18ace19a548f987304aa2382d5955
Autor:
Sam Amin, Marie Monaghan, Angel Aledo-Serrano, Nadia Bahi-Buisson, Richard F. Chin, Angus J. Clarke, J. Helen Cross, Scott Demarest, Orrin Devinsky, Jenny Downs, Elia M. Pestana Knight, Heather Olson, Carol-Anne Partridge, Graham Stuart, Marina Trivisano, Sameer Zuberi, Tim A. Benke
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from in
Externí odkaz:
https://doaj.org/article/b229f548295447debb7effe4ff9a80e2
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Akademický článek
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Autor:
Isamu Kameshita, Yasunori Sugiyama
Publikováno v:
Biochemistry and Biophysics Reports
Biochemistry and Biophysics Reports, Vol 11, Iss C, Pp 40-45 (2017)
Biochemistry and Biophysics Reports, Vol 11, Iss C, Pp 40-45 (2017)
Diverse biological events are regulated through protein phosphorylation mediated by protein kinases. Some of these protein kinases are known to be involved in the pathogenesis of various diseases. Although 518 protein kinase genes were identified in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f5b283bbad69dae81fc2b25ceca05c8
http://europepmc.org/articles/PMC5614692
http://europepmc.org/articles/PMC5614692
Autor:
Yukihiko Kubota, Tetsuya Inazu, Muhamad Fahmi, Masahiro Ito, Syouichi Katayama, Takako Kaneko-Kawano, Kaito Seki, Gen Yasui
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 22, p 5593 (2019)
International Journal of Molecular Sciences
Volume 20
Issue 22
International Journal of Molecular Sciences
Volume 20
Issue 22
Rett syndrome (RTT), a neurodevelopmental disorder, is mainly caused by mutations in methyl CpG-binding protein 2 (MECP2), which has multiple functions such as binding to methylated DNA or interacting with a transcriptional co-repressor complex. It h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b107a8351882b952e1f772ea5a5c272
https://www.mdpi.com/1422-0067/20/22/5593
https://www.mdpi.com/1422-0067/20/22/5593
Autor:
Muhamad, Fahmi, Gen, Yasui, Kaito, Seki, Syouichi, Katayama, Takako, Kaneko-Kawano, Tetsuya, Inazu, Yukihiko, Kubota, Masahiro, Ito
Publikováno v:
International Journal of Molecular Sciences
Rett syndrome (RTT), a neurodevelopmental disorder, is mainly caused by mutations in methyl CpG-binding protein 2 (MECP2), which has multiple functions such as binding to methylated DNA or interacting with a transcriptional co-repressor complex. It h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a3f60234beafd2445c541c6fca809482
https://pubmed.ncbi.nlm.nih.gov/31717404
https://pubmed.ncbi.nlm.nih.gov/31717404
Publikováno v:
香川大学農学部学術報告. 68(121):17-23
application/pdf
Cyclin‐dependent kinase‐like 5 (CDKL5) is a Ser/Thr protein kinase. Mammalian CDKL5 is predominantly expressed in brain and mutation in mammalian CDKL5 gene causes neurodevelopmental disorders. However, in fishes, functional
Cyclin‐dependent kinase‐like 5 (CDKL5) is a Ser/Thr protein kinase. Mammalian CDKL5 is predominantly expressed in brain and mutation in mammalian CDKL5 gene causes neurodevelopmental disorders. However, in fishes, functional
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=jairo_______::3b2fff9667562f5c143401d1431e1326
https://kagawa-u.repo.nii.ac.jp/records/3602
https://kagawa-u.repo.nii.ac.jp/records/3602