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

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Title: Loss of function variants in HPDL impair human cortical development via alterations of mitochondrial function.
Authors: Baggiani M; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy., Desbats MA; Department of Women's and Children's Health, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, Padova, Italy., Naef V; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy., Giacich M; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy., Galatolo D; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy., Mero S; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy., Zampieri S; Department of Women's and Children's Health, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, Padova, Italy., Cappello V; Electron Crystallography, Center for Material Interfaces, Istituto Italiano di Tecnologia, Pontedera, PI, 56025, Italy., Valentino A; Department of Women's and Children's Health, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, Padova, Italy., Salviati L; Department of Women's and Children's Health, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, Padova, Italy., Santorelli FM; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy. filippo3364@gmail.com., Damiani D; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy. devid.damiani@fsm.unipi.it.
Source: Cell death & disease [Cell Death Dis] 2026 Feb 20; Vol. 17 (1). Date of Electronic Publication: 2026 Feb 20.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101524092 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-4889 (Electronic) NLM ISO Abbreviation: Cell Death Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2041-4889
DOI:10.1038/s41419-026-08476-9