1-1 of 1
Keywords: Photoreceptor cell
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells

Open Access
In collection:
Rare Disease Translational Research
Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K. Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B. Agrawal
Journal: Disease Models & Mechanisms
Dis Model Mech (2024) 17 (8): dmm050557.
https://doi.org/10.1242/dmm.050557
Published: 30 July 2024
... profound thinning of the entire retina, specifically of the outer photoreceptor layer, due to extensive photoreceptor cell apoptosis. Loss of Hbs1l resulted in comprehensive proteomic alterations by mass spectrometry analysis, with an increase in the levels of 169 proteins and a decrease in the levels...
View article titled, HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells
Open the PDF for HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells in another window
Includes: Supplementary data