Rohit Budhraja

Mice with mono-allelic p.R37H Dhdds variant show aberrant glycosylation and interneuron deficits

This study describes a mouse model of DHDDS-CDG, showing seizures, myoclonus, and cognitive deficits linked to glycosylation defects and interneuron abnormalities.

Predicting disease-overarching therapeutic approaches for Congenital Disorders of Glycosylation using multi-OMICS

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

ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG

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

PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model

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.

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology

This study creates a mouse model of PMM2-CDG by selectively removing PMM2 from neural precursor cells, revealing cerebellar hypoplasia and ataxia, and showing molecular disturbances in the cerebellum that mirror human disease.