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The Journal of Biological Chemistry|July 29, 2005
ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowthElizabeth L Tudor, Michael S Perkinton, Anja Schmidt, et al.
Plos One|March 22, 2014
Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cellsAgnes L Nishimura, Carole Shum, Emma L Scotter, et al.
Acta Neuropathologica Communications|June 26, 2015
Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALSJacqueline C Mitchell, Remy Constable, Eva So, et al.
Glia|December 17, 2019
Mutant C9orf72 human iPSC-derived astrocytes cause non-cell autonomous motor neuron pathophysiologyChen Zhao, Anna-Claire Devlin, Amit K Chouhan, et al.
Human Molecular Genetics|October 4, 2017
C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicityYoun-Bok Lee, Pranetha Baskaran, Jorge Gomez-Deza, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 2, 2018
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment biasPuja R Mehta, Ashley R Jones, Sarah Opie-Martin, et al.
Human Molecular Genetics|January 12, 2013
Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypesDanielle C Diaper, Yoshitsugu Adachi, Ben Sutcliffe, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|April 2, 2019
Telomere length is greater in ALS than in controls: a whole genome sequencing studyAhmad Al Khleifat, Alfredo Iacoangeli, Aleksey Shatunov, et al.
EMBO Reports|July 16, 2016
ALS/FTD-associated FUS activates GSK-3β to disrupt the VAPB-PTPIP51 interaction and ER-mitochondria associationsRadu Stoica, Sébastien Paillusson, Patricia Gomez-Suaga, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology|December 21, 2011
An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive declineClaire Troakes, Satomi Maekawa, Lokesh Wijesekera, et al.
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