Translational biochemistry for dystroglycanopathies

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ISPD (isoprenoid synthase domain containing) mutations cause a wide clinical spectrum of muscular dystrophies (dystroglycanopathies). Human ISPD is a cytidyltransferase, catalyses the reaction from CTP and Ribitol-5-phosphate to CDP-Ribitol, a novel nucleotide sugar for functional alpha-dystroglycan. hISPD has one conserved cytidyltransferase domain and a second functional unknown non-conserved domain. We aim to correlate clinical phenotypes to structural impacts of ISPD mutations to decipher the underlying molecular mechanisms.

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