Ibrahim Shammas

This study profiles mitochondrial respiration in IBM muscle tissue, identifying sex-specific impairments in respiration and OXPHOS complexes, along with correlations with disease severity.

This study uses cortical organoids to show that ALG13 loss-of-function causes glycosylation defects, neuronal maturation issues, and network hypoactivity in CDG.

This paper investigates the role of PGM1 in cardiomyocytes using patient-derived stem cells, finding disruptions in sarcomere and mitochondrial function, and suggesting potential therapeutic targets.

This study identifies sex-specific metabolic alterations in IBM muscle tissue, showing changes in central carbon metabolism and correlations with clinical parameters.