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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
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  Data: Loss of function variants in HPDL impair human cortical development via alterations of mitochondrial function.
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  Data: <searchLink fieldCode="AU" term="%22Baggiani+M%22">Baggiani M</searchLink>; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Desbats+MA%22">Desbats MA</searchLink>; Department of Women's and Children's Health, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Naef+V%22">Naef V</searchLink>; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Giacich+M%22">Giacich M</searchLink>; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Galatolo+D%22">Galatolo D</searchLink>; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Mero+S%22">Mero S</searchLink>; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Zampieri+S%22">Zampieri S</searchLink>; Department of Women's and Children's Health, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Cappello+V%22">Cappello V</searchLink>; Electron Crystallography, Center for Material Interfaces, Istituto Italiano di Tecnologia, Pontedera, PI, 56025, Italy.<br /><searchLink fieldCode="AU" term="%22Valentino+A%22">Valentino A</searchLink>; Department of Women's and Children's Health, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Salviati+L%22">Salviati L</searchLink>; Department of Women's and Children's Health, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatrica-IRP, Fondazione Città della Speranza, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Santorelli+FM%22">Santorelli FM</searchLink>; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy. filippo3364@gmail.com.<br /><searchLink fieldCode="AU" term="%22Damiani+D%22">Damiani D</searchLink>; Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Calambrone, 56128, Pisa, Italy. devid.damiani@fsm.unipi.it.
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  Data: <searchLink fieldCode="JN" term="%22101524092%22">Cell death & disease</searchLink> [Cell Death Dis] 2026 Feb 20; Vol. 17 (1). <i>Date of Electronic Publication: </i>2026 Feb 20.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101524092 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2041-4889 (Electronic) <i>NLM ISO Abbreviation: </i>Cell Death Dis <i>Subsets: </i>MEDLINE
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