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
Rok vydání: 2022
Předmět:
Zdroj: Developmental Biology. 490:155-171
ISSN: 0012-1606
DOI: 10.1016/j.ydbio.2022.08.002
Popis: 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, and neurite sensing. GALNT17, also known as WBSCR17, is located at the edge of the Williams-Beuren Syndrome (WBS) critical region and adjacent to the AUTS2 locus, genomic regions associated with neurodevelopmental phenotypes that are thought to be co-regulated. Although previous data have implicated Galnt17 in neurodevelopment, the in vivo functions of this gene have not been investigated. In this study, we have analyzed behavioral, brain pathology, and molecular phenotypes exhibited by Galnt17 knockout (Galnt17
Databáze: OpenAIRE
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