Anavex Life Sciences Corp (AVXL)

[XenaLives]

Haven't found what I'm looking for yet, but this was also interesting, showing that Sigma1 genetic mutations affect the whole body:

Abstract
Distal hereditary motor neuropathies (dHMNs) are clinically and genetically heterogeneous neurological conditions characterized
by degeneration of the lower motor neurons. So far, 18 dHMN genes have been identified, however, about 80% of dHMN cases
remain without a molecular diagnosis. By a combination of autozygosity mapping, identity-by-descent segment detection and
whole-exome sequencing approaches, we identified two novel homozygous mutations in the SIGMAR1 gene (p.E138Q and p.E150K)
in two distinct Italian families affected by an autosomal recessive form of HMN. Functional analyses in several neuronal cell lines
strongly support the pathogenicity of the mutations and provide insights into the underlying pathomechanisms involving the regulation of ER-mitochondria tethering, Ca2þ homeostasis and autophagy. Indeed, in vitro, both mutations reduce cell viability, the formation of abnormal protein aggregates preventing the correct targeting of sigma-1R protein to the mitochondria-associated ER
membrane (MAM) and thus impinging on the global Ca2þ signalling. Our data definitively demonstrate the involvement of SIGMAR1
in motor neuron maintenance and survival by correlating, for the first time in the Caucasian population, mutations in this gene to
distal motor dysfunction and highlight the chaperone activity of sigma-1R at the MAM as a critical aspect in dHMN pathology.

more...

Link to full paper, all the junk after the "?" is necessary to access:
https://watermark.silverchair.com/ddw220.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAj4wggI6BgkqhkiG9w0BBwagggIrMIICJwIBADCCAiAGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMjuvodQkHg-SUVS9CAgEQgIIB8VX5AFsg5mbjBrcxDJ46OeHOU4h96OGYz4g8szdqRXeHiOXNTX1GaVeNWNTxQprRH5BQ3h9I-6iewBlcF6jRw7mQgzcxAZM25QypNiKhY8goV3qQLjOEhD4IhZ_5Fo9zGTjwc8FwjhHilw4NPJ7ak0N1HT9BA4O_u-lzYDdMRUeGUmv8FU4c56jotvEDTlwDXwVPfhis-8ofzIvjmqqOtA5uqELq8F2x3FbLvNt1lrN3TYzuGh3kueCXy5cAPBG7kIUXUkapM09fw9wqalW7DV-WwY5r_H1tFNiVoe--p4sxcf6UybOlOQQ64-ZN93zWiTbW_7z63zkiSvtxiGmcmhr3_iLAX4YdyD49eeSRyvyZKuwulo68Dx6bQYaT9OeSwAtfZxKDKcci-t1FPNy-oNc8MW1fVVyGtBg6RmOTaPxMW6ayvS09y_9EhrbB_SflXUoqI2UsR9XFPBKJtXUI6ldZSdfodxPuUk8Rg-NozBuHSgG4oOIGiDsOc4cYA_6YU5FusU82AQBwR9DyXJYzHvqKCmMiAX_n_qXbBUoZWEJ6dxtW_8ah7Wgyok20xrahRzpxsMWN8OL7dGeOr_jGcS0a5XEcNSwaEk75f0bVAf14dpckGVTX4BEaay7pA1IcUGLmKlWMvhlZHlvNvGWg18fO