Andrew D. Nguyen

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide

This study identifies deep intronic IGHMBP2 variants causing SMARD1 and CMT2S, showing they activate a shared cryptic splice donor, enabling correction with a single antisense oligonucleotide in patient-derived motor neurons.

Biochemical, biomarker, and behavioral characterization of the GrnR493X mouse model of frontotemporal dementia

This study characterizes the GrnR493X mouse model of frontotemporal dementia, finding similar phenotypes to Grn knockout models but with differences in biomarker levels in heterozygous mice.

Antisense oligonucleotides targeting the miR-29b binding site in the GRN mRNA increase progranulin translation

This study shows that antisense oligonucleotides can increase progranulin protein levels by blocking miR-29b binding in GRN mRNA, offering a potential therapy for FTD.