EEFSEC deficiency underlies a human selenopathy with primary neurodevelopmental origins via midbrain-hindbrain hypoplasia

Summary: Bi-allelic mutations in EEFSEC, a key factor in selenoprotein synthesis, cause a severe human selenopathy characterized by developmental delay, spasticity, and profound cerebellar atrophy. While previous studies in invertebrate models framed this condition as an early-onset neurodegenerativ...

תיאור מלא

מידע ביבליוגרפי

Principais autores:	Zhiyi Xia, Hui Liu, Pengbo Guo, Chongfen Chen, Lili Ge, Longfei Tang, Yaodong Zhang, Yanli Ma
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Elsevier 2026-04-01
סדרה:	HGG Advances
נושאים:	EEFSEC selenopathy neurodevelopmental disorder midbrain-hindbrain hypoplasia motor dysfunction zebrafish model
גישה מקוונת:	http://www.sciencedirect.com/science/article/pii/S2666247726000035
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!