Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1

Kiskinis E, Sandoe J, Williams LA, Boulting GL, Moccia R, Wainger B, Han S, Peng T, Thams S, Mikkilineni S, Mellin C, Merkle FT, Davis-Dusenbery BN, Ziller M, Oakley D, Ichida J, Di Costanzo S, Atwater N, Maeder ML, Goodwin MJ, Nemesh J, Handsaker RE, Paull D, Noggle S, McCarroll SA, Joung JK, Woolf CJ, Brown RH, Eggan K.

Cell Stem Cell, 2014


The role of SOD1 mutation in induced motor neurons was evaluated to determine the impact on motor neuron biology, in particular with regard to Amytrophic Lateral Sclerosis (ALS).  Functional changes were evaluated in induced human motor neurons and demonstrated that the mutation perturbed common pathways to cause neuronal degeneration. 

Keywords: Amytrophic Lateral Sclerosis, ALS, motor neuron, SOD1 

Pathways Disrupted in Human ALS Motor Neurons Identified Through Genetic Correction of Mutant SOD1