2024
DOI: 10.1096/fj.202302265rr
|View full text |Cite
|
Sign up to set email alerts
|

DDX58 variant triggers IFN‐β‐induced autophagy in trabecular meshwork and influences intraocular pressure

Xinting Huang,
Xiaoyu Zhou,
Feng Zhang
et al.

Abstract: Singleton–Merten syndrome (SMS) is a rare immunogenetic disorder affecting multiple systems, characterized by dental dysplasia, aortic calcification, glaucoma, skeletal abnormalities, and psoriasis. Glaucoma, a key feature of both classical and atypical SMS, remains poorly understood in terms of its molecular mechanism caused by DDX58 mutation. This study presented a novel DDX58 variant (c.1649A>C [p.Asp550Ala]) in a family with childhood glaucoma. Functional analysis showed that DDX58 variant caused an inc… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

0
0
0

Publication Types

Select...

Relationship

0
0

Authors

Journals

citations
Cited by 0 publications
references
References 47 publications
0
0
0
Order By: Relevance

No citations

Set email alert for when this publication receives citations?