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Previous studies have shown that a loss-of-function mechanism is responsible for VAPB-induced ALS. Recently, a novel mutation in hVAPB (V234I) has been identified but its pathogenic potential has not been assessed. We found that neuronal expression of the V234I mutant allele in Drosophila (DVAP-V260I) induces defects in synaptic structure and microtubule architecture that are opposite to those associated with DVAP mutants and transgenic expression of other ALS-linked alleles. Expression of DVAP-V260I also induces aggregate formation, reduced viability, wing postural defects, abnormal locomotion behavior, nuclear abnormalities, neurodegeneration and upregulation of the heat-shock-mediated stress response. Similar, albeit milder, phenotypes are associated with the overexpression of the wild-type protein. These data show that overexpressing the wild-type DVAP is sufficient to induce the disease and that DVAP-V260I is a pathogenic allele with increased wild-type activity. We propose that a combination of gain- and loss-of-function mechanisms is responsible for VAPB-induced ALS.<\/jats:p>","DOI":"10.1242\/bio.20137070","type":"journal-article","created":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T05:12:25Z","timestamp":1386738745000},"page":"59-71","source":"Crossref","is-referenced-by-count":35,"title":["Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles"],"prefix":"10.1242","volume":"3","author":[{"given":"Mario","family":"Sanhueza","sequence":"first","affiliation":[{"name":"Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neuron Disease Research, School of Biomedical Sciences, University of Edinburgh, Edinburgh EH8 9XD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Zechini","sequence":"additional","affiliation":[{"name":"Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neuron Disease Research, School of Biomedical Sciences, University of Edinburgh, Edinburgh EH8 9XD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trudy","family":"Gillespie","sequence":"additional","affiliation":[{"name":"Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neuron Disease Research, School of Biomedical Sciences, University of Edinburgh, Edinburgh EH8 9XD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppa","family":"Pennetta","sequence":"additional","affiliation":[{"name":"Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neuron Disease Research, School of Biomedical Sciences, University of Edinburgh, Edinburgh EH8 9XD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2013,12,10]]},"reference":[{"key":"2021111216364113800_b1","doi-asserted-by":"publisher","first-page":"4293","DOI":"10.1093\/hmg\/ddt279","article-title":"Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons.","volume":"22","author":"Aliaga","year":"2013","journal-title":"Hum. 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