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Select item 111456011.

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

Abstract Article PDF–619K

Select item 107604322.

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

Abstract Article PDF–728K

Select item 107136153.

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

Abstract Article PDF–1.8M

Select item 104724914.

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

Abstract Article PDF–874K

Select item 98993105.

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

Abstract Article PDF–346K

Select item 98861326.

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

Abstract Article PDF–368K

Select item 97888337.

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

Abstract Article PDF–747K

Select item 94339388.

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

Abstract Article PDF–9.3M

Select item 86856629.

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

Abstract Article PDF–296K

Select item 831454710.

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

Abstract Article PDF–3.7M

Select item 816503011.

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

Abstract Article PDF–2.2M

Select item 778998112.

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

Abstract Article

Select item 742732713.

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

Abstract Article

Select item 716998314.

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

Abstract Article PDF–5.4M

Select item 712092915.

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

Abstract Article PDF–909K

Select item 711644216.

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

Abstract Article PDF–2.5M

Select item 704973217.

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