PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

OBJECTIVE: Intracellular signaling networks rely on proper membrane organization to control an array of cellular processes such as metabolism, proliferation, apoptosis, and macroautophagy in eukaryotic cells and organisms. Phosphatidylinositol 4‐phosphate (PI4P) emerged as an essential regulatory li...

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Detalles Bibliográficos
Autores principales: Dafsari, Hormos Salimi, Pemberton, Joshua G., Ferrer, Elizabeth A., Yammine, Tony, Farra, Chantal, Mohammadi, Mohammad Hasan, Ghayoor Karimiani, Ehsan, Hashemi, Narges, Souaid, Mirna, Sabbagh, Sandra, Najarzadeh Torbati, Paria, Khan, Suliman, Roze, Emmanuel, Moreno‐De‐Luca, Andres, Bertoli‐Avella, Aida M., Houlden, Henry, Balla, Tamas, Maroofian, Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9463957/
https://www.ncbi.nlm.nih.gov/pubmed/35880319
http://dx.doi.org/10.1002/acn3.51634

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