Emanuele Buratti

TDP-43 pathology induces CD8+ T cell activation through cryptic epitope recognition

This study identifies cryptic epitopes from de novo proteins caused by TDP-43 pathology as targets of CD8+ T cell activation in ALS and IBM.

Genomic Modifiers of Neurological Resilience in a Niemann-Pick C family

The paper identifies genomic modifiers of neurological resilience in Niemann-Pick C disease by analyzing exomes from a family with diverse phenotypes and validates findings in yeast models.

Axon guidance genes are regulated by TDP-43 and RGNEF through the rate of long-intron processing.

The paper shows TDP-43 and RGNEF regulate axon guidance genes through their opposing effects on long-intron processing in neuronal-like cells.

Mitigation of TDP-43-induced toxic phenotype by expression of RGNEF N-terminal fragment in ALS models

This study shows that expressing a RGNEF N-terminal fragment mitigates TDP-43 toxicity in ALS models by reducing aggregation and neurodegeneration.

Cell environment shapes TDP-43 function: implications in neuronal and muscle disease

The paper compares TDP-43's transcriptional and splicing effects in muscle and neuronal cells, showing tissue-specific roles in disease.

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.