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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...
Gorde:
| Argitaratua izan da: | Biochemistry |
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| Egile Nagusiak: | , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2015
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| Gaiak: | |
| Sarrera elektronikoa: | 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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