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C-terminally clustered UGDH hypomorphic variants reveal subtle mechanisms of cellular and developmental disruption
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DOI：10.1016/j.matbio.2026.102011.png)
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Abstract
En 中文
• Jamuar Syndrome is an ultrarare disorder caused by variants in the essential gene UGDH • UGDH variants may not alter protein expression but profoundly impact development • Disrupted allosteric control of UGDH in C-terminal variants blunts glycan production • Three novel UGDH variants of undetermined significance were validated in the study
Keywords:
UDP-glucose dehydrogenase
congenital disorders of glycosylation
developmental epileptic encephalopathy
hyaluronan
glycosaminoglycan
enzyme kinetics
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