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

doi:10.1016/j.stem.2014.03.004

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Article

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

Cell stem cell - 5 Jun 2014

Kiskinis Evangelos, Sandoe Jackson, Williams Luis A, Boulting Gabriella L, Moccia Rob, Wainger Brian J, Han Steve, Peng Theodore, Thams Sebastian, Mikkilineni Shravani, Mellin Cassidy, Merkle Florian T, Davis-Dusenbery Brandi N, Ziller Michael, Oakley Derek, Ichida Justin, Di Costanzo Stefania, Atwater Nick, Maeder Morgan L, Goodwin Mathew J, Nemesh James, Handsaker Robert E, Paull Daniel, Noggle Scott, McCarroll Steven A, Joung J Keith, Woolf Clifford J, Brown Robert H, Eggan Kevin

Abstract excerpt

Although many distinct mutations in a variety of genes are known to cause Amyotrophic Lateral Sclerosis (ALS), it remains poorly understood how they selectively impact motor neuron biology and whether they converge on common pathways to cause neuronal degeneration. Here, we have combined reprogramming and stem cell differentiation approaches with genome engineering and RNA sequencing to define the transcriptional...

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Identifiers

PMID: 24704492
DOI: 10.1016/j.stem.2014.03.004
PMCID: PMC4653065

Genes

SOD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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