Targeting Mutant Phenylalanine Hydroxylase With Pyrimidine-Triazole Conjugates: A Primary Framework for Candidate Chaperone-Based Strategies in Phenylketonuria.

doi:10.1096/fj.202600321R

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Targeting Mutant Phenylalanine Hydroxylase With Pyrimidine-Triazole Conjugates: A Primary Framework for Candidate Chaperone-Based Strategies in Phenylketonuria.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 31 Aug 2026

Chaturvedi Suchi, Mishra Shambhavi, Pandya Nirali, Kumar Shubham, Negi Rohit, Singh Saumya, Patel Yashvant, Tiwari Sonal, Patel Arun, Gupta Rakesh Kumar, Mishra Sunil Kumar, Singh Ankur, Tripathi Garima, Tripathi Anima, Kumar Abhijeet, Dubey Pawan K

Abstract excerpt

Phenylketonuria (PKU) is a rare metabolic disorder caused by pathogenic mutations in the phenylalanine hydroxylase (PAH) gene, which impair the conversion of phenylalanine to tyrosine, leading to subsequent neurotoxicity. Dietary management, sapropterin dihydrochloride, and pegvaliase are the current therapies; however, their limited efficacy and adverse effects highlight the pressing need for pharmacological...

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PMID: 42616575
DOI: 10.1096/fj.202600321R
PMCID: PMC13489167

Genes

PAH
PTS
QDPR
SPR

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