Rameen Shah

This study identifies mitochondrial dysfunction and metabolic impairments in DHDDS-related juvenile parkinsonism and shows that NMN treatment improves symptoms in patient-derived organoids and clinical cases.

This study identifies shared molecular signatures and potential therapeutic targets across multiple Congenital Disorders of Glycosylation using multi-omics integration and drug prediction.

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.