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Article

Loss of function variants in HPDL impair human cortical development via alterations of mitochondrial function.

Cell death & disease - 20 Feb 2026

Baggiani Matteo, Desbats Maria Andrea, Naef Valentina, Giacich Michela, Galatolo Daniele, Mero Serena, Zampieri Sara, Cappello Valentina, Valentino Agata, Salviati Leonardo, Santorelli Filippo Maria, Damiani Devid

Abstract excerpt

Human brain development is highly regulated by several spatiotemporal processes, which disruption can result in severe neurological disorders. Emerging evidence highlights the pivotal role of mitochondrial function as one of these fundamental pathways involved in neurodevelopment. Our study investigates the role of 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) protein in cortical neurogenesis and mitochondrial...

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Identifiers

PMID: 41720761
DOI: 10.1038/s41419-026-08476-9
PMCID: PMC12948981

Genes

HPDL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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