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Galnt17 loss-of-function leads to developmental delay and abnormal coordination, activity, and social interactions with cerebellar vermis pathology

Autor: Chih-Ying Chen, Christopher H. Seward, Yunshu Song, Manasi Inamdar, Analise M. Leddy, Huimin Zhang, Jennifer Yoo, Wei-Chun Kao, Hanna Pawlowski, Lisa J. Stubbs

Publikováno v: Developmental Biology. 490:155-171

GALNT17 encodes a N-acetylgalactosaminyltransferase (GalNAc-T) protein specifically involved in mucin-type O-linked glycosylation of target proteins, a process important for cell adhesion, cell signaling, neurotransmitter activity, neurite outgrowth,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::220fd63fc49e6d92903d31960c05eb71
https://doi.org/10.1016/j.ydbio.2022.08.002

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Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin -lineage cells, generates a specific suite of brain, behavioral and molecular pathologies

Autor: Yunshu Song, Christopher H. Seward, Chih-Ying Chen, Amber LeBlanc, Analise M. Leddy, Lisa Stubbs

Publikováno v: bioRxiv

Rearrangements within theAUTS2region are associated with a rare syndromic disorder with intellectual disability, developmental delay and behavioral abnormalities as core features. In addition, smaller regional variants are linked to wide range of neu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a220a2037b1cd2a9a4cb7898d85e6d95
https://europepmc.org/articles/PMC10187298/

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