Associated Papers
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.
Yoon JG et al.
American Journal of Human Genetics, 2024
39047730 (PubMed )
Supplement: mmc3.pdf
"Mitochondrial pathogenic mutations and metabolic alterations associated with COVID-19 disease severity".
Kumari D et al.
Journal of Medical Virology, 2023
Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability.
Cornell RB et al.
The Journal of Biological Chemistry, 2019
Coevolutionary analysis enabled rational deregulation of allosteric enzyme inhibition in Corynebacterium glutamicum for lysine production.
Chen Z et al.
Applied and Environmental Microbiology, 2011
Genetic variations of gpx-4 and male infertility in humans.
Maiorino M et al.
Biology of Reproduction, 2003
The ribosomal exit tunnel functions as a discriminating gate.
Nakatogawa H et al.
Cell, 2002
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