A novel Lgi1 mutation causes white matter abnormalities and impairs motor coordination in mice

Autor:	Xiao‐Yu Teng, Ping Hu, Yangyang Chen, Yanyu Zang, Xiaolian Ye, Jingmin Ou, Guiquan Chen, Yun Stone Shi
Rok vydání:	2022
Předmět:	Male Movement Intracellular Signaling Peptides and Proteins Mutation Missense Biochemistry White Matter Mice Inbred C57BL Mice Genetics Animals Female Molecular Biology Postural Balance Biotechnology
Zdroj:	FASEB journal : official publication of the Federation of American Societies for Experimental BiologyREFERENCES. 36(3)
ISSN:	1530-6860
Popis:	Leucine-rich glioma-inactivated protein 1 (LGI1) is known to play a key role in autosomal dominant lateral temporal lobe epilepsy (ADLTE). The ADLTE is an inherited disease characterized by focal seizures with distinctive auditory or aphasic symptoms. A large number of mutations on the Lgi1 gene have been reported and are believed to be the genetic cause for ADLTE. We identified a novel missense mutation, c.152AG (p.Asp51Gly), on Lgi1 from a Chinese ADLTE patient who manifests locomotor imbalance and white matter reduction. However, it remains unknown how mutant LGI1 causes white matter abnormalities at molecular and cellular levels. Here, we generated a knock-in mouse bearing this Lgi1 mutation. We found that Lgi1
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f5ee95cf4584343ad735d4dc3cddee https://pubmed.ncbi.nlm.nih.gov/35167164 Zobrazit plný text záznamu Plný text