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Examination of two different proteasome inhibitors in reactivating mutant human cystathionine β-synthase in mice
Classic homocystinuria is an inborn error of metabolism caused mainly by missense mutations leading to misfolded and/or unstable human cystathionine β-synthase (CBS) protein, causing the accumulation of excess total homocysteine (tHcy) in tissues. Previously, it has been shown that certain missense...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10270616/ https://www.ncbi.nlm.nih.gov/pubmed/37319242 http://dx.doi.org/10.1371/journal.pone.0286550 |