Mahreen Khan

Interventionally targeting somatic CAG expansions can be a rapid disease-modifying therapeutic avenue: Preclinical evidence.

This study shows that reducing somatic CAG expansions in HD mice improves motor function and disease markers, suggesting therapeutic potential for HD and similar repeat expansion diseases.

C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A

This paper shows C9orf72 expansions create a folate-sensitive fragile site FRA9A, leading to chromosomal instability and immune responses in patient cells and mice.

Huntingtin is an RNA-binding protein and participates in NEAT1-mediated paraspeckles

This study identifies huntingtin as an RNA-binding protein that interacts with G-rich RNA sequences, including those in the NEAT1 paraspeckle lncRNA.

Antagonistic roles of canonical and alternative RPA in tandem CAG repeat diseases

The paper investigates the roles of canonical and alternative RPA in CAG repeat diseases, finding that Alt-RPA antagonizes RPA's suppression of CAG expansions, contributing to disease pathogenesis.

Genome-wide tandem repeat expansions contribute to schizophrenia risk

The paper identifies genome-wide rare tandem repeat expansions associated with schizophrenia risk by comparing cases and controls.

FAN1 nuclease processes and pauses on disease-associated slipped-DNA repeats: Mechanism against repeat expansions

The paper shows FAN1 nuclease processes and pauses on slipped-DNA repeats, reducing repeat expansions and delaying disease onset.