Šoltić, D and Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X (2020) Molecular crosstalk between non-SMN-related and SMN-related spinal muscular atrophy. Neuroscience Insights, 15.

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Abstract

Most cases of spinal muscular atrophy are caused by functional loss of the survival of motor neuron 1 (SMN1) gene, while less than 5% of cases are attributed to genes other than SMN. Mutations in LMNA, the lamin A/C encoding gene, cause an adult form of SMA, and in our recent work we highlight a role for lamin A/C in SMN-related SMA pathways. Here, we discuss this apparent molecular crosstalk between different types of SMA in context with previous work, showing that dysregulation of proteins produced by other SMA-causing genes, including UBE1, GARS
and SETX, are also implicated in SMN-related SMA pathways. The perturbation of UBE1, GARS and lamin A/C help explain mechanisms of tissue-specific pathology in SMA, and we propose Wnt/β-catenin signalling as a common molecular pathway upon which they each converge. Therapeutic strategies directed at these proteins, or their convergent pathways, may therefore offer a new approach to targeting tissue-specific pathology in SMN-related SMA.

Item Type: Article
Additional Information: The final version of this article and all relevant information can be found at; https://journals.sagepub.com/doi/10.1177/2633105520914301
Uncontrolled Keywords: Spinal Muscular Atrophy, SMA, SMN, LMNA, Lamin A/C, GARS, UBE1, UBA1, SETX, β-catenin, Wnt/β-catenin
Subjects: R Medicine > R Medicine (General)
R Medicine > RS Pharmacy and materia medica
R Medicine > RZ Other systems of medicine
Divisions: Faculty of Medicine and Health Sciences > School of Pharmacy and Bioengineering
Depositing User: Symplectic
Date Deposited: 03 Mar 2020 15:27
Last Modified: 18 Aug 2020 09:47
URI: https://eprints.keele.ac.uk/id/eprint/7748

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