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SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death.

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Title: SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death.
Authors: Hellicar J; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK., Dattner T; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Sun T; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Percival L; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK., Chrisp R; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK., Pietrobattista A; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy., Witkos T; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK., Mironov A; Electron Microscopy Core Facility, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK., Leghlam L; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Jentsch C; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Koelker S; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Staufner C; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Hong W; Institute of Molecular and Cell Biology, Agency for Science, Technology and Research (A(∗)STAR), 61 Biopolis Drive, Proteos, Singapore138673, Singapore., Lenz D; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Lowe M; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK.
Source: Disease models & mechanisms [Dis Model Mech] 2025 Nov 01; Vol. 18 (11). Date of Electronic Publication: 2025 Nov 27.
Publication Type: Journal Article
Journal Info: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death.
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  Data: <searchLink fieldCode="AU" term="%22Hellicar+J%22">Hellicar J</searchLink>; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK.<br /><searchLink fieldCode="AU" term="%22Dattner+T%22">Dattner T</searchLink>; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Sun+T%22">Sun T</searchLink>; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Percival+L%22">Percival L</searchLink>; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK.<br /><searchLink fieldCode="AU" term="%22Chrisp+R%22">Chrisp R</searchLink>; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK.<br /><searchLink fieldCode="AU" term="%22Pietrobattista+A%22">Pietrobattista A</searchLink>; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Witkos+T%22">Witkos T</searchLink>; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK.<br /><searchLink fieldCode="AU" term="%22Mironov+A%22">Mironov A</searchLink>; Electron Microscopy Core Facility, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK.<br /><searchLink fieldCode="AU" term="%22Leghlam+L%22">Leghlam L</searchLink>; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Jentsch+C%22">Jentsch C</searchLink>; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Koelker+S%22">Koelker S</searchLink>; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Hoffmann+GF%22">Hoffmann GF</searchLink>; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Staufner+C%22">Staufner C</searchLink>; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Hong+W%22">Hong W</searchLink>; Institute of Molecular and Cell Biology, Agency for Science, Technology and Research (A(∗)STAR), 61 Biopolis Drive, Proteos, Singapore138673, Singapore.<br /><searchLink fieldCode="AU" term="%22Lenz+D%22">Lenz D</searchLink>; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Lowe+M%22">Lowe M</searchLink>; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK.
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        Value: 10.1242/dmm.052371
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        Text: English
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      – TitleFull: SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death.
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              Text: 2025 Nov 01
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