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Items: 1 to 20 of 56

1.
First report of Tunisian patients with CDKL5‐related encephalopathy
Chahnez Charfi Triki, Salma Zouari Mallouli, Marwa Ben Jdila, Mariem Ben Said, Fatma Kamoun Feki, Sarah Weckhuysen, Sabeur Masmoudi, Faiza Fakhfakh
Epilepsia Open. 2024 Jun; 9(3): 906–917. Published online 2024 Apr 29. doi: 10.1002/epi4.12824
PMCID:
PMC11145601
AbstractArticlePDF–619K
2.
The Development, Content and Response Process Validation of a Caregiver-Reported Severity Measure for CDKL5 Deficiency Disorder
Sonja I Ziniel, Alexandra Mackie, Jacinta Saldaris, Helen Leonard, Peter Jacoby, Eric D. Marsh, Bernhard Suter, Elia Pestana-Knight, Heather E. Olson, Dana Price, Judith Weisenberg, Rajsekar Rajaraman, Gina VanderVeen, Tim A. Benke, Jenny Downs, Scott Demarest
Epilepsy Res. Author manuscript; available in PMC 2024 Jan 2.
Published in final edited form as: Epilepsy Res. 2023 Nov; 197: 107231. Published online 2023 Sep 20. doi: 10.1016/j.eplepsyres.2023.107231
PMCID:
PMC10760432
AbstractArticlePDF–728K
3.
Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability
Marisol Sampedro-Castañeda, Lucas L. Baltussen, André T. Lopes, Yichen Qiu, Liina Sirvio, Simeon R. Mihaylov, Suzanne Claxton, Jill C. Richardson, Gabriele Lignani, Sila K. Ultanir
Nat Commun. 2023; 14: 7830. Published online 2023 Dec 11. doi: 10.1038/s41467-023-43475-w
PMCID:
PMC10713615
AbstractArticlePDF–1.8M
4.
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome
Nicola Specchio, Marina Trivisano, Matteo Lenge, Alessandro Ferretti, Davide Mei, Elena Parrini, Antonio Napolitano, Camilla Rossi-Espagnet, Giacomo Talenti, Daniela Longo, Jacopo Proietti, Francesca Ragona, Elena Freri, Roberta Solazzi, Tiziana Granata, Francesca Darra, Bernardo Dalla Bernardina, Federico Vigevano, Renzo Guerrini
Cereb Cortex. 2023 Sep 1; 33(17): 9709–9717. Published online 2023 Jul 10. doi: 10.1093/cercor/bhad235
Correction in:
Cereb Cortex. 2024 Feb; 34(2): bhae059.
PMCID:
PMC10472491
AbstractArticlePDF–874K
5.
Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials
Jacinta M. Saldaris, Peter Jacoby, Helen Leonard, Tim A. Benke, Scott Demarest, Eric D. Marsh, Jenny Downs
Epilepsy Behav. Author manuscript; available in PMC 2024 Feb 1.
Published in final edited form as: Epilepsy Behav. 2023 Feb; 139: 109069. Published online 2023 Jan 10. doi: 10.1016/j.yebeh.2022.109069
PMCID:
PMC9899310
AbstractArticlePDF–346K
6.
Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder
Jessica Stansauk, Andrea Fidell, Tim Benke, Michael Schaffer, Scott T. Demarest
Am J Med Genet A. Author manuscript; available in PMC 2023 Jan 30.
Published in final edited form as: Am J Med Genet A. 2023 Jan; 191(1): 108–111. Published online 2022 Nov 13. doi: 10.1002/ajmg.a.62995
PMCID:
PMC9886132
AbstractArticlePDF–368K
7.
CDKL5 deficiency disorder: clinical features, diagnosis, and management
Helen Leonard, Jenny Downs, Tim A Benke, Lindsay Swanson, Heather Olson, Scott Demarest
Lancet Neurol. Author manuscript; available in PMC 2022 Dec 23.
Published in final edited form as: Lancet Neurol. 2022 Jun; 21(6): 563–576. Published online 2022 Apr 25. doi: 10.1016/S1474-4422(22)00035-7
PMCID:
PMC9788833
AbstractArticlePDF–747K
8.
Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB
Fu‐Long Li, Zhengming Wu, Yong‐Qi Gao, Forrest Z Bowling, J Matthew Franklin, Chongze Hu, Raymond T Suhandynata, Michael A Frohman, Michael V Airola, Huilin Zhou, Kun‐Liang Guan
EMBO J. 2022 Sep; 41(17): e110698. Published online 2022 Jul 17. doi: 10.15252/embj.2022110698
PMCID:
PMC9433938
AbstractArticlePDF–9.3M
9.
Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition
Angela Peron, Maria Paola Canevini, Filippo Ghelma, Rosangela Arancio, Miriam Nella Savini, Aglaia Vignoli
J Med Genet. 2022 Jan; 59(1): 39–45. Published online 2020 Oct 26. doi: 10.1136/jmedgenet-2020-107333
PMCID:
PMC8685662
AbstractArticlePDF–296K
10.
SNX27-driven membrane localisation of OTULIN antagonises linear ubiquitination and NF-κB signalling activation
Ruona Shi, Xue Shi, Dajiang Qin, Shibing Tang, Michiel Vermeulen, Xiaofei Zhang
Cell Biosci. 2021; 11: 146. Published online 2021 Jul 27. doi: 10.1186/s13578-021-00659-5
PMCID:
PMC8314547
AbstractArticlePDF–3.7M
11.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
12.
Involvement of the CDKL5-SOX9 signaling axis in rhabdomyolysis-associated acute kidney injury
Ji Young Kim, Yuntao Bai, Laura A. Jayne, Rachel E. Cianciolo, Amandeep Bajwa, Navjot Singh Pabla
Am J Physiol Renal Physiol. 2020 Nov 1; 319(5): F920–F929. Published online 2020 Oct 12. doi: 10.1152/ajprenal.00429.2020
PMCID:
PMC7789981
AbstractArticle
13.
Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases
Marija Buljan, Rodolfo Ciuffa, Audrey van Drogen, Anton Vichalkovski, Martin Mehnert, George Rosenberger, Sohyon Lee, Markku Varjosalo, Lucia Espona Pernas, Vincent Spegg, Berend Snijder, Ruedi Aebersold, Matthias Gstaiger
Mol Cell. 2020 Aug 6; 79(3): 504–520.e9. doi: 10.1016/j.molcel.2020.07.001
PMCID:
PMC7427327
AbstractArticle
14.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
15.
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder: clinical review
Heather E. Olson, Scott T. Demarest, Elia M. Pestana-Knight, Lindsay C. Swanson, Sumaiya Iqbal, Dennis Lal, Helen Leonard, J. Helen Cross, Orrin Devinsky, Tim A. Benke
Pediatr Neurol. Author manuscript; available in PMC 2020 Aug 1.
Published in final edited form as: Pediatr Neurol. 2019 Aug; 97: 18–25. Published online 2019 Feb 23. doi: 10.1016/j.pediatrneurol.2019.02.015
PMCID:
PMC7120929
AbstractArticlePDF–909K
16.
Cyclin-dependent-like kinase 5 is required for pain signaling in human sensory neurons and mouse models
Paolo La Montanara, Arnau Hervera, Lucas Baltussen, Thomas H Hutson, Ilaria Palmisano, Francesco De Virgiliis, Guiping Kong, Jessica Chadwick, Yunan Gao, Katalin Bartus, Qasim A. Majid, Nikos Gorgoraptis, Kingsley Wong, Jenny Downs, Tommaso Pizzorusso, Sila Ultanir, Helen Leonard, Hongwei Yu, David S Millar, Nagy Istvan, Nicholas D Mazarakis, Simone Di Giovanni
Sci Transl Med. Author manuscript; available in PMC 2021 Jan 8.
Published in final edited form as: Sci Transl Med. 2020 Jul 8; 12(551): eaax4846. Published online 2020 Jul 8. doi: 10.1126/scitranslmed.aax4846
PMCID:
PMC7116442
AbstractArticlePDF–2.5M
17.
Artificial escape from XCI by DNA methylation editing of the CDKL5 gene
Julian A N M Halmai, Peter Deng, Casiana E Gonzalez, Nicole B Coggins, David Cameron, Jasmine L Carter, Fiona K B Buchanan, Jennifer J Waldo, Samantha R Lock, Johnathon D Anderson, Henriette O’Geen, David J Segal, Jan Nolta, Kyle D Fink
Nucleic Acids Res. 2020 Mar 18; 48(5): 2372–2387. Published online 2020 Jan 11. doi: 10.1093/nar/gkz1214
PMCID:
PMC7049732
AbstractArticlePDF–3.0M
18.
Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders
Yumei Yan, Dake He, Jing Wu, Ruolin Hou, Kun Sun, Ling Li
Ital J Pediatr. 2020; 46: 27. Published online 2020 Feb 28. doi: 10.1186/s13052-020-0775-y
PMCID:
PMC7048148
AbstractArticlePDF–1.2M
19.
CDKL5 promotes proliferation, migration, and chemotherapeutic drug resistance of glioma cells via activation of the PI3K/AKT signaling pathway
Zhenfu Jiang, Tongtong Gong, Hong Wei
FEBS Open Bio. 2020 Feb; 10(2): 268–277. Published online 2020 Jan 21. doi: 10.1002/2211-5463.12780
PMCID:
PMC6996333
AbstractArticlePDF–1.7M
20.
In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment
Muhamad Fahmi, Gen Yasui, Kaito Seki, Syouichi Katayama, Takako Kaneko-Kawano, Tetsuya Inazu, Yukihiko Kubota, Masahiro Ito
Int J Mol Sci. 2019 Nov; 20(22): 5593. Published online 2019 Nov 8. doi: 10.3390/ijms20225593
PMCID:
PMC6888432
AbstractArticlePDF–4.2M

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