2018
DOI: 10.2139/ssrn.3155929
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Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation

Abstract: Length-dependent axonopathy of the corticospinal tract causes lower limb spasticity and is characteristic of several neurological disorders, including hereditary spastic paraplegia (HSP) and amyotrophic lateral sclerosis. Mutations in Trk-fused gene (TFG) have been implicated in both diseases, but the pathomechanisms by which these alterations cause neuropathy remain unclear. Here, we biochemically and genetically define the impact of a mutation within the TFG coiled-coil domain, which underlies earlyonset for… Show more

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“…TFG is also a tumorrelated gene situated on chromosome 3 and is widely expressed in cells. 14 The function of TFG is to maintain the stability of the endoplasmic reticulum (ER) structure 15 and is correlated with the protein secretory pathways. 16 Furthermore, several fusion oncoproteins are encoded partially by TFG, such as TFG-ALK, 17 TFG-RET, 18 and TFG-MET.…”
mentioning
confidence: 99%
“…TFG is also a tumorrelated gene situated on chromosome 3 and is widely expressed in cells. 14 The function of TFG is to maintain the stability of the endoplasmic reticulum (ER) structure 15 and is correlated with the protein secretory pathways. 16 Furthermore, several fusion oncoproteins are encoded partially by TFG, such as TFG-ALK, 17 TFG-RET, 18 and TFG-MET.…”
mentioning
confidence: 99%