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C-terminally clustered UGDH hypomorphic variants reveal subtle mechanisms of cellular and developmental disruption.

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Title: C-terminally clustered UGDH hypomorphic variants reveal subtle mechanisms of cellular and developmental disruption.
Authors: Harwood H; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA., Zimmer BM; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA., Utz AR; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA., Venema M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Allego E; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA., Skirboll SS; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA., Harding A; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA., Enders JR; Molecular Education, Technology and Research Innovation Center, North Carolina State University, Raleigh, NC 27695, USA., Grantham-Hill S; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK., Elmslie F; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK., Ly YR; Synnovis Biochemical Genetics, Guy's Hospital, London, UK., Clarke A; Department of Paediatric Neurology, St George's University Hospitals NHS Foundation Trust, London, UK., Xu M; Manchester Centre for Genomic Medicine, Manchester, UK., Tan HJ; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, UK., Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Jamuar SS; Genetics service, KK Women's and Children's Hospital, Singapore., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Makris TM; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA., Barycki JJ; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA; Molecular Education, Technology and Research Innovation Center, North Carolina State University, Raleigh, NC 27695, USA., Simpson MA; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA. Electronic address: msimpso3@ncsu.edu.
Source: Matrix biology : journal of the International Society for Matrix Biology [Matrix Biol] 2026 Jun; Vol. 146, pp. 102011. Date of Electronic Publication: 2026 Apr 28.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9432592 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1569-1802 (Electronic) Linking ISSN: 0945053X NLM ISO Abbreviation: Matrix Biol Subsets: MEDLINE
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  Data: C-terminally clustered UGDH hypomorphic variants reveal subtle mechanisms of cellular and developmental disruption.
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  Data: <searchLink fieldCode="AU" term="%22Harwood+H%22">Harwood H</searchLink>; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA.<br /><searchLink fieldCode="AU" term="%22Zimmer+BM%22">Zimmer BM</searchLink>; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA.<br /><searchLink fieldCode="AU" term="%22Utz+AR%22">Utz AR</searchLink>; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA.<br /><searchLink fieldCode="AU" term="%22Venema+M%22">Venema M</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Allego+E%22">Allego E</searchLink>; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA.<br /><searchLink fieldCode="AU" term="%22Skirboll+SS%22">Skirboll SS</searchLink>; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA.<br /><searchLink fieldCode="AU" term="%22Harding+A%22">Harding A</searchLink>; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA.<br /><searchLink fieldCode="AU" term="%22Enders+JR%22">Enders JR</searchLink>; Molecular Education, Technology and Research Innovation Center, North Carolina State University, Raleigh, NC 27695, USA.<br /><searchLink fieldCode="AU" term="%22Grantham-Hill+S%22">Grantham-Hill S</searchLink>; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Elmslie+F%22">Elmslie F</searchLink>; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Ly+YR%22">Ly YR</searchLink>; Synnovis Biochemical Genetics, Guy's Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Clarke+A%22">Clarke A</searchLink>; Department of Paediatric Neurology, St George's University Hospitals NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Xu+M%22">Xu M</searchLink>; Manchester Centre for Genomic Medicine, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Tan+HJ%22">Tan HJ</searchLink>; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Stals+K%22">Stals K</searchLink>; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Jamuar+SS%22">Jamuar SS</searchLink>; Genetics service, KK Women's and Children's Hospital, Singapore.<br /><searchLink fieldCode="AU" term="%22Barakat+TS%22">Barakat TS</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Makris+TM%22">Makris TM</searchLink>; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA.<br /><searchLink fieldCode="AU" term="%22Barycki+JJ%22">Barycki JJ</searchLink>; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA; Molecular Education, Technology and Research Innovation Center, North Carolina State University, Raleigh, NC 27695, USA.<br /><searchLink fieldCode="AU" term="%22Simpson+MA%22">Simpson MA</searchLink>; Department of Molecular and Structural Biochemistry, North Carolina State University, Raleigh, NC 27695, USA. Electronic address: msimpso3@ncsu.edu.
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  Data: <searchLink fieldCode="JN" term="%229432592%22">Matrix biology : journal of the International Society for Matrix Biology</searchLink> [Matrix Biol] 2026 Jun; Vol. 146, pp. 102011. <i>Date of Electronic Publication: </i>2026 Apr 28.
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