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Article

Importance of the long non-coding RNA (lncRNA) transcript HULC for the regulation of phenylalanine hydroxylase and treatment of phenylketonuria.

Molecular genetics and metabolism - 1 Mar 2022

Lin Chunru, Li Yajuan, Zhang Eric, Feillet François, Zhang Shuxing, Blau Nenad

Abstract excerpt

More than 1280 variants in the phenylalanine hydroxylase (PAH) gene are responsible for a broad spectrum of phenylketonuria (PKU) phenotypes. While the genotype-phenotype correlation is reaching 88%, for some inconsistent phenotypes with the same genotype additional factors like tetrahydrobiopterin (BH4), the PAH co-chaperone DNAJC12, phosphorylation of the PAH residues or epigenetic factors may play an important...

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PMID: 35101330
DOI: 10.1016/j.ymgme.2022.01.004

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