An ALS-linked mutation in TDP-43 disrupts normal protein interactions in the motor neuron response to oxidative stress.
Feneberg E. et al, (2020), Neurobiol Dis, 144
Mice Carrying ALS Mutant TDP-43, but Not Mutant FUS, Display In Vivo Defects in Axonal Transport of Signaling Endosomes.
Sleigh JN. et al, (2020), Cell Rep, 30, 3655 - 3662.e2
Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo.
Williamson MG. et al, (2019), Hum Mol Genet, 28, 3584 - 3599
Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction.
Gordon D. et al, (2019), Neurobiol Dis, 121, 148 - 162
The interactome of human TDP-43 in a cellular model of amyotrophic lateral sclerosis
Feneberg E. et al, (2019), EUROPEAN JOURNAL OF NEUROLOGY, 26, 221 - 222
Absence of wide-spread mis-splicing in the preclinical phase of a native promoter driven TDP-43 mouse model of ALS
Scaber J. et al, (2016), EUROPEAN JOURNAL OF NEUROLOGY, 23, 797 - 797
Absence of wide-spread mis-splicing in the preclinical phase of a native promoter driven TDP-43 mouse model of ALS
Scaber J. et al, (2016), NEUROMUSCULAR DISORDERS, 26, S31 - S31
TDP-43 is cytoplasmically mislocalized and associated with impaired stress responses and survival of primary neurons from symptomatic amyotrophic lateral sclerosis (ALS) mice
Farrimond L. et al, (2016), EUROPEAN JOURNAL OF NEUROLOGY, 23, 390 - 391
TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca²⁺ signaling in motor neurons.
Mutihac R. et al, (2015), Neurobiol Dis, 75, 64 - 77
Motor disorders
Gordon D. and Talbot K., (2014), Behavioral Genetics of the Mouse Volume II: Genetic Mouse Models of Neurobehavioral Disorders, 63 - 78