Sarah E. Kargbo-Hill

TDP-43 dysfunction induces cryptic circular RNAs in ALS/FTD

This study identifies TDP-43 dysfunction as a cause of cryptic circular RNA formation in ALS/FTD, showing their association with disease-relevant protein loss and potential as biomarkers.

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.

Integrative multiomic analysis links TDP-43-driven splicing defects to cascading proteomic disruption of ALS/FTD pathways

The paper identifies TDP-43-dependent molecular cascades in ALS/FTD by integrating multiomic data from iPSC-derived neurons and validates key genes through experimental assays.

Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD

The paper shows that loss of TDP-43 function leads to the expression of de novo proteins from mis-spliced mRNA transcripts in ALS/FTD.

TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTD

The paper identifies novel cryptic polyadenylation events induced by TDP-43 loss in ALS/FTD using bioinformatic methods and shows their potential disease relevance and impact on protein translation.

The active zone protein Clarinet regulates ATG-9 trafficking at synapses and presynaptic autophagy

This study identifies CLA-1L's role in regulating ATG-9 trafficking and presynaptic autophagy through interactions with endocytic proteins.

Presynaptic autophagy is coupled to the synaptic vesicle cycle via ATG-9

This study identifies ATG-9 trafficking as a mechanism linking presynaptic autophagy to the synaptic vesicle cycle in C. elegans.

Common ALS/FTD risk variants in UNC13A exacerbate its cryptic splicing and loss upon TDP-43 mislocalization

The paper shows that ALS/FTD risk variants in UNC13A increase sensitivity to TDP-43 depletion by promoting cryptic exon inclusion and protein loss.

Neuronal Enhancers are Hotspots For DNA Single-Strand Break Repair

The paper identifies DNA single-strand breaks (SSBs) accumulating at neuronal enhancers and shows their repair involves PARP1, XRCC1, and DNA polymerase β.