Joseph R. Klim

The paper examines changes in chromosome conformation, nuclear organization, and transcription during motor neuron maturation in control and ALS C9orf72 mutant cells, finding delayed maturation in disease models.

The paper develops NMDq, a next-generation sequencing method to quantify NMD status, and applies it to ALS and FTD, finding no significant PTC differences but showing UPF1 regulates RNA homeostasis through alternative polyadenylation.

The paper shows that reduced Kv8.1 expression in ALS motor neurons with SOD1(A4V) and C9orf72 mutations increases vulnerability to cell death by affecting metabolism and transport pathways.

The paper shows that loss of GRN in human brain organoids leads to TDP-43 pathology, driven by astrocytes, and can be rescued by progranulin.

This study combines Ngn2 overexpression with small molecule patterning to efficiently generate lower induced Motor Neurons (liMoNes) from hPSCs, achieving high yields and functional characteristics.

The paper identifies an enrichment of rare protein-truncating variants in ALS patients, highlighting novel genes like DNAJC7 and known ALS genes such as SOD1, NEK1, and FUS.