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Genome-wide SNP-typing, linkage analysis, and exome sequencing revealed a homozygous c.316C&gt;T (p.R106C) variant in the Trk-fused gene (\n                    <jats:italic>TFG<\/jats:italic>\n                    ) as the only plausible mutation. Biochemical characterization of the mutant protein demonstrated a defect in its ability to self-assemble into an oligomeric complex, which is critical for normal TFG function. In cell lines, TFG inhibition slows protein secretion from the endoplasmic reticulum (ER) and alters ER morphology, disrupting organization of peripheral ER tubules and causing collapse of the ER network onto the underlying microtubule cytoskeleton. The present study provides a unique link between altered ER architecture and neurodegeneration.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1217197110","type":"journal-article","created":{"date-parts":[[2013,3,11]],"date-time":"2013-03-11T21:09:22Z","timestamp":1363036162000},"page":"5091-5096","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":103,"title":["Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure"],"prefix":"10.1073","volume":"110","author":[{"given":"Christian","family":"Beetz","sequence":"first","affiliation":[{"name":"Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, 07747 Jena, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Biomolecular Chemistry, University of Wisconsin School of Medicine and Public Health, 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