Area of research
Molecular Biology · Neurology
Research interest
Research focused on RNA splicing and Frontotemporal dementia, with related work in Exon, Computational biology, Single-nucleotide polymorphism. Notable publications include 'TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A', 'Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD', and 'MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration'.
Collective homeostasis of condensation-prone proteins via their mRNAs
Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD
Creation of de novo cryptic splicing for ALS and FTD precision medicine
From computational models of the splicing code to regulatory mechanisms and therapeutic implications
TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTD
Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation
Common ALS/FTD risk variants in <i>UNC13A</i> exacerbate its cryptic splicing and loss upon TDP-43 mislocalization