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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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