Dysferlinopathy (Limb Girdle Muscular Dystrophy R2/LGMD2B) causes progressive weakness of limb-girdle muscles. Although gait abnormalities are common, the contribution of spinal muscles to disease symptoms remains poorly understood. Using cross-sectional MRI in patients and longitudinal analyses in a dysferlinopathic m...
Young Jae Moon, Nikki M. McCormack, Thomas Diehn et al.· EMBO Molecular Medicine· 0 citations
Limb-girdle muscular dystrophy type R2 (LGMDR2) is a genetic disorder characterized by progressive skeletal muscle weakness and degeneration. It is caused by mutations in the DYSF gene, which prevent dysferlin expression. Dysferlin protein is essential for muscle cell membrane repair. Gene therapy using adeno-associate...
Nikki M. McCormack, Stephanie Lee-Diaz, Theodore R. Reyes et al.· Science Translational Medici...· 0 citations
This review examines how metabolic pathways, particularly the balance between glycolysis and oxidative phosphorylation, govern macrophage behavior through epigenetic mechanisms, thereby coupling cellular metabolism to inflammatory and regenerative gene expression and how these interconnected pathways are disrupted in c...
Sarah Tiufekchiev-Grieco, James S. Novak, J. Jaiswal· Frontiers in Immunology· 1 citation
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