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Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction

Glycosylphosphatidylinositol (GPI) anchors correctly localize 1% to 2% of human proteins to the cell membrane. Although biosynthesis of GPI anchors is commonly inactivated by somatic Phosphatidylinositol glycan anchor biosynthesis class A (PIGA) mutations in hematopoietic precursors in paroxysmal no...

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Main Authors: Muckenthaler, Lena (Author) , Marques, Oriana (Author) , Colucci, Silvia (Author) , Kunz, Joachim (Author) , Fabrowski, Piotr (Author) , Bast, Thomas (Author) , Altamura, Sandro (Author) , Höchsmann, Britta Elisabeth Hedwig (Author) , Schrezenmeier, Hubert (Author) , Langlotz, Monika (Author) , Richter-Pechańska, Paulina (Author) , Rausch, Tobias (Author) , Hofmeister-Mielke, Nicole (Author) , Gunkel, Nikolas (Author) , Hentze, Matthias W. (Author) , Kulozik, Andreas (Author) , Muckenthaler, Martina (Author)
Format: Article (Journal) Editorial
Language:English
Published: 2022
In: Blood
Year: 2022, Volume: 139, Issue: 9, Pages: 1418-1422
ISSN:1528-0020
DOI:10.1182/blood.2021013519
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1182/blood.2021013519
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Author Notes:Lena Muckenthaler, Oriana Marques, Silvia Colucci, Joachim Kunz, Piotr Fabrowski, Thomas Bast, Sandro Altamura, Britta Höchsmann, Hubert Schrezenmeier, Monika Langlotz, Paulina Richter-Pechanska, Tobias Rausch, Nicole Hofmeister-Mielke, Nikolas Gunkel, Matthias W. Hentze, Andreas E. Kulozik, and Martina U. Muckenthaler
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Summary:Glycosylphosphatidylinositol (GPI) anchors correctly localize 1% to 2% of human proteins to the cell membrane. Although biosynthesis of GPI anchors is commonly inactivated by somatic Phosphatidylinositol glycan anchor biosynthesis class A (PIGA) mutations in hematopoietic precursors in paroxysmal nocturnal hemoglobinuria (PNH), constitutional PIGA mutations are rare and have been implicated in severe impairment of neurologic development. Here we uncover that hypomorphic constitutional PIGA mutations cause a novel subtype of hereditary hemochromatosis (HH) by severely limiting GPI anchorage of hemojuvelin and ceruloplasmin.
Item Description:Prepublished online on blood first edition December 7, 2021
Gesehen am 08.04.2022
Physical Description:Online Resource
ISSN:1528-0020
DOI:10.1182/blood.2021013519

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