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Creators/Authors contains: "Jefcoat, Hanna J"

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  1. ; ; (, microPublication Biology)
    Attention-deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder that affects 6-7% of people worldwide (Wilcutt, 2012). MAOA is a gene that encodes monoamine oxidase A, an enzyme responsible for the regulation and metabolism of monoamines thought to be associated with ADHD. This study investigates a leucine to serine swap at amino acid position 32 in FAD-binding domain of the enzyme monoamine oxidase A. Results from in silico prediction tools and molecular dynamics modeling provide evidence to support pathogenicity of the L32S missense variant of monoamine oxidase A. 
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  2. ; ; ; ; (, microPublication Biology)
    Parkinson’s disease is the second most common neurodegenerative disease which is caused by a lack of dopamine in the brain. Parkinson 22 is a form of Parkinson’s disease caused by variations in the coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) protein. This study investigates an aspartic acid-to-alanine swap on amino acid position 130 (D130A) of the CHCHD2 protein. We have employed protein modeling, conservation analysis, and molecular dynamics simulations to gain an understanding of the effects of the D130A variant on CHCHD2 protein structure and movement. 
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