Jared L. Sterneckert

A Human Neuronal Cell Model of Endogenous TDP-43 A315T Reveals Altered Protein Dynamics and Disease-Relevant Cellular Dysfunction

This study develops a human neuronal model with the TDP-43 A315T mutation to study ALS-related protein dysfunction and therapeutic responses.

Deep axonal proteomics of human iPSC-derived neurons by microfluidic separation and DIA-MS

This paper reports the deepest human axonal proteome to date using microfluidic separation and DIA-MS on iPSC-derived neurons, identifying axon-enriched proteins and disease-related pathways.

RIG-I mediated neuron-specific IFN type 1 signaling in FUS-ALS induces neurodegeneration and offers new biomarker-driven individualized treatment options for (FUS-)ALS

The paper identifies RIG-I-mediated innate immune activation in FUS-ALS spinal motor neurons due to mitochondrial dsRNA accumulation, which can be targeted by JAK-STAT inhibition, offering potential biomarker-driven treatment options.

DJ-1 products glycolic acid and D-lactate restore deficient axonal trafficking and DNA damage response in FUS and SOD1-associated amyotrophic lateral sclerosis

The paper shows that glycolic acid and D-lactate restore axonal trafficking and DNA damage response in FUS and SOD1-ALS patient-derived motoneurons.

Live cell imaging of ATP levels reveals metabolic compartmentalization within motoneurons and early metabolic changes in FUS ALS motoneurons.

The paper uses live cell imaging to show reduced ATP levels in FUS-ALS motoneurons, linking metabolic changes to disease vulnerability.

High content live profiling reveals concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosis.

This study shows that C9ORF72 ALS pathogenesis involves both gain and loss of function mechanisms causing axonal organelle trafficking impairment and DNA damage.

Age-dependent neurodegeneration and organelle transport deficiencies in mutant TDP43 patient-derived neurons are independent of TDP43 aggregation

This study shows that TDP43 mutations cause motor neuron degeneration in ALS through mechanisms unrelated to TDP43 aggregation or mislocalization.