{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPOMT1 encodes a protein O‐mannosyltransferase that initiates the O‐mannosylation of proteins—most notably, alpha‐dystroglycan—by transferring mannose from dolichol‐phosphate‐mannose to serine or threonine residues. Its proper function requires coexpression and physical association with the homologous partner POMT2, as only the heteromeric complex exhibits enzymatic activity. Studies in mammalian cells and yeast models have demonstrated that the integrity of POMT1 (including proper N‐glycosylation for maintaining its conformation) is essential for effective O‐mannosylation; defects in its catalytic activity lead to loss of alpha‐dystroglycan glycosylation and consequent disruption of extracellular matrix interactions critical for muscle and brain development."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in POMT1 are now recognized to underlie a broad spectrum of neuromuscular disorders, collectively known as alpha‐dystroglycanopathies. The clinical presentations range from the severe Walker–Warburg syndrome—with congenital muscular dystrophy, profound brain malformations, and ocular abnormalities—to milder forms such as limb‐girdle muscular dystrophy sometimes accompanied by mental retardation and even cardiomyopathy in select patients. Detailed genotype–phenotype correlations—including founder mutations, compound heterozygosity, and differences in residual enzyme activity—explain the considerable variability in disease severity observed across diverse populations."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "11", "end_ref": "20"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its established enzymatic role in muscular and brain development, recent investigations have expanded our understanding of POMT1’s functional impact. Advanced biochemical assays, structural analyses, and gene‐editing studies have clarified its interaction with POMT2 and highlighted how specific mutations abrogate enzyme activity without disrupting complex formation. Furthermore, emerging research has implicated aberrant POMT1 function in altered neuronal migration, extracellular matrix organization, and even cross‐reactivity in autoimmunity. Such insights have not only refined diagnostic approaches through enzyme‐activity assays in patient cells but also opened avenues for innovative therapeutic strategies, including the use of mesenchymal stem cell–derived vesicles to deliver functional glycosyltransferase mRNAs."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "21", "end_ref": "30"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al. 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