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Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?
J Inherit Metab Dis. 2024 Sep;47(5):841-859. doi: 10.1002/jimd.12767. Epub 2024 Jun 14.
J Inherit Metab Dis. 2024.
PMID: 38873792
Review.
Cellular turnover and degradation of the most common missense cystathionine beta-synthase variants causing homocystinuria.
Mijatovic E, Ascenção K, Szabo C, Majtan T.
Mijatovic E, et al.
Protein Sci. 2024 Aug;33(8):e5123. doi: 10.1002/pro.5123.
Protein Sci. 2024.
PMID: 39041895
Free PMC article.
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Impact of primary sequence changes on the self-association properties of mammalian cystathionine beta-synthase enzymes.
Lee HO, Gupta K, Wang L, Dunbrack RL, Majtan T, Kruger WD.
Lee HO, et al.
Protein Sci. 2024 Dec;33(12):e5223. doi: 10.1002/pro.5223.
Protein Sci. 2024.
PMID: 39548832
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