Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration

Bernard-Marissal, Nathalie ; Médard, Jean-Jacques ; Azzedine, Hamid ; Chrast, Roman

In: Brain, 2015, vol. 138, no. 4, p. 875-890

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    Mutations in SIGMAR1, which encodes the Sigma 1 receptor, cause a familial form of amyotrophic lateral sclerosis, but the underlying molecular mechanisms are unclear. Bernard-Marissal et al. reveal that disruption of Sigma 1 receptor function disturbs endoplasmic reticulum-mitochondria interactions and functions, resulting in degeneration specifically of motor neurons