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Research progress on the pathogenesis of CDKL5 pathogenic variants and related encephalopathy

  • Published:2023-05-11 Issue:7 Volume:182 Page:3049-3056
  • ISSN:1432-1076
  • Container-title:European Journal of Pediatrics
  • language:en
  • Short-container-title:Eur J Pediatr

Author:

Sun Xuyan,Wang Tiancheng

Funder

the Gansu Provincial Science and Technology Plan Project

the Lanzhou Science and Technology Plan Project

the Second Hospital of Lanzhou University "Cuiying Technological Innovation" Program

the 2017 Lanzhou University Second Hospital "Cuiying Graduate Instructor" Training Program

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference65 articles.

1. Montini E, Andolfi G, Caruso A, Buchner G, Walpole SM, Mariani M, Consalez G, Trump D, Ballabio A, Franco B (1998) Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics 51:427–433. https://doi.org/10.1006/geno.1998.5391

2. Negraes PD, Trujillo CA, Yu NK, Wu W, Yao H, Liang N, Lautz JD, Kwok E, McClatchy D, Diedrich J, de Bartolome SM, Truong J, Szeto R, Tran T, Herai RH, Smith SEP, Haddad GG, Yates JR 3rd, Muotri AR (2021) Altered network and rescue of human neurons derived from individuals with early-onset genetic epilepsy. Mol Psychiatry 26:7047–7068. https://doi.org/10.1038/s41380-021-01104-2

3. Barbiero I, Bianchi M, Kilstrup-Nielsen C (2022) Therapeutic potential of pregnenolone and pregnenolone methyl ether on depressive and CDKL5 deficiency disorders: focus on microtubule targeting. J Neuroendocrinol 34:e13033. https://doi.org/10.1111/jne.13033

4. Barbiero I, Peroni D, Siniscalchi P, Rusconi L, Tramarin M, De Rosa R, Motta P, Bianchi M, Kilstrup-Nielsen C (2020) Pregnenolone and pregnenolone-methyl-ether rescue neuronal defects caused by dysfunctional CLIP170 in a neuronal model of CDKL5 deficiency disorder. Neuropharmacology 164:107897. https://doi.org/10.1016/j.neuropharm.2019.107897

5. Baltussen LL, Negraes PD, Silvestre M, Claxton S, Moeskops M, Christodoulou E, Flynn HR, Snijders AP, Muotri AR, Ultanir SK (2018) Chemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics. The EMBO journal 37. https://doi.org/10.15252/embj.201899763

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