TY  - GEN
T1  - Conserved missense variant in ALDH1A3 ortholog impairs fecundity in C. elegans
AU  - Wong, Wan-Rong
AU  - Maher, Shayda
AU  - Oh, Jun Young
AU  - Brugman, Katherine I
AU  - Gharib, Shahla
AU  - Sternberg, Paul W
DO  - 10.17912/micropub.biology.000357
UR  - http://beta.micropublication.org/journals/biology/micropub-biology-000357/
AB  - Retinoic acid (RA), the active metabolite of vitamin A, broadly regulates gene expression. The RA signaling pathway plays an essential role in embryonic development, including the development of the body axis, eye, brain, and heart (Ghyselinck & Duester, 2019). One of the key enzymes in the biosynthesis of RA is aldehyde dehydrogenase 1 family member A3 (ALDH1A3). ALDH1A3 converts retinaldehyde to retinoic acid and it is expressed early in forebrain development (McCaffery & Drager, 1994). Several mutations in ALDH1A3 have been implicated in patients with autosomal recessive microphthalmia and other neurological disorders (Fares-Taie et al., 2013; Roos et al., 2014). However, current animal models of ALDH1A3 have large truncations of the protein. Direct evidence of the effects of missense variants on ALDH1A3 protein activity has not yet been obtained.
PY  - 2021
JO  - microPublication Biology
ER  -