Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt Conformational Equilibrium and Enhance Product Release(†)

Regulation of 5-aminolevulinate synthase (ALAS) is at the origin of balanced heme production in mammals. Mutations in the C-terminal region of human erythroid-specific ALAS (hALAS2) are associated with X-linked protoporphyria (XLPP), a disease characterized by extreme photosensitivity, with elevated...

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Publicado no:Biochemistry
Main Authors: Fratz, Erica J., Clayton, Jerome, Hunter, Gregory A., Ducamp, Sarah, Breydo, Leonid, Uversky, Vladimir N., Deybach, Jean-Charles, Gouya, Laurent, Puy, Hervé, Ferreira, Gloria C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4573335/
https://ncbi.nlm.nih.gov/pubmed/26300302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/acs.biochem.5b00407
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