Dwi U. Kemaladewi

Targeting Galectin-3 to modulate inflammation in LAMA2-deficient congenital muscular dystrophy

This study identifies Galectin-3 as a driver of inflammation in LAMA2-CMD and shows that inhibiting it reduces inflammation and fibrosis in a mouse model.

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome

This paper characterizes a mouse model of Snyder-Robinson Syndrome with a missense mutation in the Sms gene, revealing behavioral, neuroanatomical, and metabolic defects.

CRISPRa-induced upregulation of human LAMA1 compensates for LAMA2-deficiency in Merosin-deficient congenital muscular dystrophy

This study shows that CRISPRa-mediated upregulation of LAMA1 compensates for LAMA2 deficiency in MDC1A fibroblasts, reducing cell migration and related pathway activity.

A mutation-independent approach via transcriptional upregulation of a disease modifier gene rescues muscular dystrophy in vivo.

This paper demonstrates that upregulating a disease modifier gene using CRISPR/dCas9 can rescue muscular dystrophy in mice, showing that muscle fibrosis may be reversible.