Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders
J Liu, Y He, C Lwin, M Han, B Guan, A Naik, C Bender… - bioRxiv, 2023 - biorxiv.org
Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders
leading to gait disturbance, visual impairment, anterior hypopituitarism, and hair anomalies …
leading to gait disturbance, visual impairment, anterior hypopituitarism, and hair anomalies …
Global computational mutagenesis of domain structures associated with inherited eye disease
FW Ortiz, YV Sergeev - Scientific Reports, 2019 - nature.com
Multidomain proteins account for 70% of the eukaryotic proteome. In genetic disease,
multidomain proteins are often affected by numerous mutations, but the effects of these …
multidomain proteins are often affected by numerous mutations, but the effects of these …
Inherited Eye Disease-Related Proteins: Molecular Modeling and Global Computational Mutagenesis
YV Sergeev - Advances in Vision Research, Volume IV: From Basic …, 2024 - Springer
Inherited eye diseases are caused by genetic mutations affecting protein structure and
function. The genetic perturbations cause a change in protein activity or even a complete …
function. The genetic perturbations cause a change in protein activity or even a complete …
[HTML][HTML] Homology modeling and global computational mutagenesis of human myosin VIIa
A Kuppa, YV Sergeev - Journal of analytical & pharmaceutical …, 2021 - ncbi.nlm.nih.gov
Usher syndrome type 1B (USH1B) is a genetic disorder caused by mutations in the
unconventional Myosin VIIa (MYO7A) protein. USH1B is characterized by hearing loss due …
unconventional Myosin VIIa (MYO7A) protein. USH1B is characterized by hearing loss due …