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000271721 1001_ $$00000-0001-9908-1151$$aBanks, Emily$$b0
000271721 245__ $$aLoss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
000271721 260__ $$a[London]$$bNature Publishing Group UK$$c2024
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000271721 520__ $$aDevelopmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a membrane trafficking protein, and develop animal models with phenotypes like the human syndrome. We demonstrate that DENND5A interacts with Pals1/MUPP1, components of the Crumbs apical polarity complex required for symmetrical division of neural progenitor cells. Human induced pluripotent stem cells lacking DENND5A fail to undergo symmetric cell division with an inherent propensity to differentiate into neurons. These phenotypes result from misalignment of the mitotic spindle in apical neural progenitors. Cells lacking DENND5A orient away from the proliferative apical domain surrounding the ventricles, biasing daughter cells towards a more fate-committed state, ultimately shortening the period of neurogenesis. This study provides a mechanism for DENND5A-related DEE that may be generalizable to other developmental conditions and provides variant-specific clinical information for physicians and families.
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000271721 650_7 $$2NLM Chemicals$$aMembrane Proteins
000271721 650_7 $$2NLM Chemicals$$aGuanine Nucleotide Exchange Factors
000271721 650_2 $$2MeSH$$aNeural Stem Cells: metabolism
000271721 650_2 $$2MeSH$$aNeural Stem Cells: cytology
000271721 650_2 $$2MeSH$$aHumans
000271721 650_2 $$2MeSH$$aAnimals
000271721 650_2 $$2MeSH$$aCell Division
000271721 650_2 $$2MeSH$$aInduced Pluripotent Stem Cells: metabolism
000271721 650_2 $$2MeSH$$aInduced Pluripotent Stem Cells: cytology
000271721 650_2 $$2MeSH$$aMice
000271721 650_2 $$2MeSH$$aNeurogenesis: genetics
000271721 650_2 $$2MeSH$$aMale
000271721 650_2 $$2MeSH$$aFemale
000271721 650_2 $$2MeSH$$aMembrane Proteins: metabolism
000271721 650_2 $$2MeSH$$aMembrane Proteins: genetics
000271721 650_2 $$2MeSH$$aGuanine Nucleotide Exchange Factors: metabolism
000271721 650_2 $$2MeSH$$aGuanine Nucleotide Exchange Factors: genetics
000271721 650_2 $$2MeSH$$aDisease Models, Animal
000271721 650_2 $$2MeSH$$aCell Polarity
000271721 7001_ $$aFrancis, Vincent$$b1
000271721 7001_ $$00000-0002-7559-6529$$aLin, Sheng-Jia$$b2
000271721 7001_ $$aKharfallah, Fares$$b3
000271721 7001_ $$00000-0003-3402-7749$$aFonov, Vladimir$$b4
000271721 7001_ $$00000-0002-1593-7037$$aLévesque, Maxime$$b5
000271721 7001_ $$aHan, Chanshuai$$b6
000271721 7001_ $$aKulasekaran, Gopinath$$b7
000271721 7001_ $$aTuznik, Marius$$b8
000271721 7001_ $$00000-0002-5960-0479$$aBayati, Armin$$b9
000271721 7001_ $$00000-0002-7965-2532$$aAl-Khater, Reem$$b10
000271721 7001_ $$00000-0003-4158-341X$$aAlkuraya, Fowzan S$$b11
000271721 7001_ $$aArgyriou, Loukas$$b12
000271721 7001_ $$aBabaei, Meisam$$b13
000271721 7001_ $$00000-0001-5132-0774$$aBahlo, Melanie$$b14
000271721 7001_ $$aBakhshoodeh, Behnoosh$$b15
000271721 7001_ $$00000-0002-6330-4680$$aBarr, Eileen$$b16
000271721 7001_ $$aBartik, Lauren$$b17
000271721 7001_ $$00000-0002-7690-8029$$aBassiony, Mahmoud$$b18
000271721 7001_ $$aBertrand, Miriam$$b19
000271721 7001_ $$00000-0002-4340-4334$$aBraun, Dominique$$b20
000271721 7001_ $$00000-0001-7576-3326$$aBuchert, Rebecca$$b21
000271721 7001_ $$aBudetta, Mauro$$b22
000271721 7001_ $$aCadieux-Dion, Maxime$$b23
000271721 7001_ $$aCalame, Daniel G$$b24
000271721 7001_ $$aCope, Heidi$$b25
000271721 7001_ $$aCushing, Donna$$b26
000271721 7001_ $$00000-0003-4900-9877$$aEfthymiou, Stephanie$$b27
000271721 7001_ $$00000-0001-5827-4459$$aElmaksoud, Marwa Abd$$b28
000271721 7001_ $$aEl Said, Huda G$$b29
000271721 7001_ $$00000-0002-2862-0733$$aFroukh, Tawfiq$$b30
000271721 7001_ $$aGill, Harinder K$$b31
000271721 7001_ $$00000-0002-0889-9220$$aGleeson, Joseph G$$b32
000271721 7001_ $$aGogoll, Laura$$b33
000271721 7001_ $$00000-0002-2477-1665$$aGoh, Elaine S-Y$$b34
000271721 7001_ $$00000-0001-7244-0492$$aGowda, Vykuntaraju K$$b35
000271721 7001_ $$00000-0001-6033-4836$$aHaack, Tobias B$$b36
000271721 7001_ $$aHashem, Mais O$$b37
000271721 7001_ $$0P:(DE-2719)2810998$$aHauser, Stefan$$b38
000271721 7001_ $$aHoffman, Trevor L$$b39
000271721 7001_ $$aHogue, Jacob S$$b40
000271721 7001_ $$aHosokawa, Akimoto$$b41
000271721 7001_ $$00000-0002-2866-7777$$aHoulden, Henry$$b42
000271721 7001_ $$00000-0002-2512-7812$$aHuang, Kevin$$b43
000271721 7001_ $$aHuynh, Stephanie$$b44
000271721 7001_ $$aKarimiani, Ehsan G$$b45
000271721 7001_ $$aKaulfuß, Silke$$b46
000271721 7001_ $$aKorenke, G Christoph$$b47
000271721 7001_ $$aKritzer, Amy$$b48
000271721 7001_ $$00000-0002-4736-0412$$aLee, Hane$$b49
000271721 7001_ $$00000-0001-9907-9246$$aLupski, James R$$b50
000271721 7001_ $$aMarco, Elysa J$$b51
000271721 7001_ $$00000-0002-1654-9036$$aMcWalter, Kirsty$$b52
000271721 7001_ $$aMinassian, Arakel$$b53
000271721 7001_ $$aMinassian, Berge A$$b54
000271721 7001_ $$aMurphy, David$$b55
000271721 7001_ $$aNeira-Fresneda, Juanita$$b56
000271721 7001_ $$00000-0002-2892-0840$$aNorthrup, Hope$$b57
000271721 7001_ $$00000-0001-6240-4017$$aNyaga, Denis M$$b58
000271721 7001_ $$aOehl-Jaschkowitz, Barbara$$b59
000271721 7001_ $$aOsmond, Matthew$$b60
000271721 7001_ $$aPerson, Richard$$b61
000271721 7001_ $$aPehlivan, Davut$$b62
000271721 7001_ $$aPetree, Cassidy$$b63
000271721 7001_ $$aSadleir, Lynette G$$b64
000271721 7001_ $$00000-0002-7407-7735$$aSaunders, Carol$$b65
000271721 7001_ $$0P:(DE-2719)2810795$$aSchoels, Ludger$$b66$$udzne
000271721 7001_ $$aShashi, Vandana$$b67
000271721 7001_ $$aSpillmann, Rebecca C$$b68
000271721 7001_ $$aSrinivasan, Varunvenkat M$$b69
000271721 7001_ $$aTorbati, Paria N$$b70
000271721 7001_ $$aTos, Tulay$$b71
000271721 7001_ $$aNetwork, Undiagnosed Diseases$$b72$$eCollaboration Author
000271721 7001_ $$00000-0001-7840-0002$$aZaki, Maha S$$b73
000271721 7001_ $$aZhou, Dihong$$b74
000271721 7001_ $$00000-0001-8002-2020$$aZweier, Christiane$$b75
000271721 7001_ $$00000-0002-6543-3371$$aTrempe, Jean-François$$b76
000271721 7001_ $$aDurcan, Thomas M$$b77
000271721 7001_ $$00000-0003-0332-234X$$aGan-Or, Ziv$$b78
000271721 7001_ $$aAvoli, Massimo$$b79
000271721 7001_ $$aAlves, Cesar$$b80
000271721 7001_ $$00000-0002-0429-1904$$aVarshney, Gaurav K$$b81
000271721 7001_ $$00000-0001-6763-1542$$aMaroofian, Reza$$b82
000271721 7001_ $$aRudko, David A$$b83
000271721 7001_ $$00000-0001-7806-5662$$aMcPherson, Peter S$$b84
000271721 7001_ $$aCope, Heidi$$b85$$eContributor
000271721 773__ $$0PERI:(DE-600)2553671-0$$a10.1038/s41467-024-51310-z$$gVol. 15, no. 1, p. 7239$$n1$$p7239$$tNature Communications$$v15$$x2041-1723$$y2024
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