Umrao R. Monani

Protein-stabilizing and neurotransmission-potentiating activities of a synaptic chaperone modify spinal muscular atrophy in model mice

This study identifies an Hspa8G470R variant that suppresses SMA in mice by increasing SMN levels and enhancing neuromuscular transmission, suggesting new therapeutic targets.

A transgene harboring the human Glucose Transporter1 (GLUT1) gene locus ameliorates disease in GLUT1 deficiency syndrome model mice.

This study shows that transgenic expression of the human GLUT1 gene in a mouse model of GLUT1 deficiency syndrome improves brain glucose levels, motor function, and seizure frequency.

A therapeutic role for a regulatory glucose transporter1 (Glut1)-associated natural antisense transcript

This paper identifies a natural antisense transcript that regulates Glut1 expression and demonstrates its therapeutic potential in Glut1 deficiency syndrome.