Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia

Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have been associated with a range of paediatric neur...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2024-11, Vol.147 (11), p.3949-3967
Hauptverfasser:	Nakamura, Yuji, Shimada, Issei S, Maroofian, Reza, Falabella, Micol, Zaki, Maha S, Fujimoto, Masanori, Sato, Emi, Takase, Hiroshi, Aoki, Shiho, Miyauchi, Akihiko, Koshimizu, Eriko, Miyatake, Satoko, Arioka, Yuko, Honda, Mizuki, Higashi, Takayoshi, Miya, Fuyuki, Okubo, Yukimune, Ogawa, Isamu, Scardamaglia, Annarita, Miryounesi, Mohammad, Alijanpour, Sahar, Ahmadabadi, Farzad, Herkenrath, Peter, Dafsari, Hormos Salimi, Velmans, Clara, Al Balwi, Mohammed, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Jeanne, Médéric, Civit, Antoine, Abdel-Hamid, Mohamed S, Naderi, Hamed, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C, Carroll, Christopher J, Ghayoor Karimiani, Ehsan, Khailany, Rozhgar A, Abdulqadir, Talib Adil, Ozaslan, Mehmet, Bauer, Peter, Zifarelli, Giovanni, Seifi, Tahere, Zamani, Mina, Al Alam, Chadi, Alvi, Javeria Raza, Sultan, Tipu, Efthymiou, Stephanie, Pope, Simon A S, Haginoya, Kazuhiro, Matsunaga, Tamihide, Osaka, Hitoshi, Matsumoto, Naomichi, Ozaki, Norio, Ohkawa, Yasuyuki, Oki, Shinya, Tsunoda, Tatsuhiko, Pitceathly, Robert D S, Taketomi, Yoshitaka, Houlden, Henry, Murakami, Makoto, Kato, Yoichi, Saitoh, Shinji
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Child Child, Preschool Female Humans Induced Pluripotent Stem Cells - metabolism Infant Lipase - genetics Male Microcephaly - genetics Microcephaly - pathology Neuroglia - metabolism Neuroglia - pathology Original Phospholipases A2, Calcium-Independent - genetics Phospholipases A2, Calcium-Independent - metabolism
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