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Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Elsayed LEO, Mohammed IN, Hamed AAA, Elseed MA, Johnson A, Mairey M, Mohamed HESA, Idris MN, Salih MAM, El-Sadig SM, Koko ME, Mohamed AYO, Raymond L, Coutelier M, Darios F, Siddig RA, Ahmed AKMA, Babai AMA, Malik HMO, Omer ZMBM, Mohamed EOE, Eltahir HB, Magboul NAA, Bushara EE, Elnour A, Rahim SMA, Alattaya A, Elbashir MI, Ibrahim ME, Durr A, Audhya A, Brice A, Ahmed AE, Stevanin G. Elsayed LEO, et al. Among authors: audhya a. Eur J Hum Genet. 2016 Jan;25(1):100-110. doi: 10.1038/ejhg.2016.108. Epub 2016 Sep 7. Eur J Hum Genet. 2016. PMID: 27601211 Free PMC article.
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nürnberg G, Altmüller J, Saxena R, Chapman ER, Dent EW, Nürnberg P, Audhya A. Beetz C, et al. Among authors: audhya a. Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):5091-6. doi: 10.1073/pnas.1217197110. Epub 2013 Mar 11. Proc Natl Acad Sci U S A. 2013. PMID: 23479643 Free PMC article. Clinical Trial.
Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation.
Slosarek EL, Schuh AL, Pustova I, Johnson A, Bird J, Johnson M, Frankel EB, Bhattacharya N, Hanna MG, Burke JE, Ruhl DA, Quinney K, Block S, Peotter JL, Chapman ER, Sheets MD, Butcher SE, Stagg SM, Audhya A. Slosarek EL, et al. Among authors: audhya a. Cell Rep. 2018 Aug 28;24(9):2248-2260. doi: 10.1016/j.celrep.2018.07.081. Cell Rep. 2018. PMID: 30157421 Free PMC article.
TFG regulates secretory and endosomal sorting pathways in neurons to promote their activity and maintenance.
Peotter JL, Pustova I, Lettman MM, Shatadal S, Bradberry MM, Winter-Reed AD, Charan M, Sharkey EE, Alvin JR, Bren AM, Oie AK, Chapman ER, Salamat MS, Audhya A. Peotter JL, et al. Among authors: audhya a. Proc Natl Acad Sci U S A. 2022 Oct 4;119(40):e2210649119. doi: 10.1073/pnas.2210649119. Epub 2022 Sep 26. Proc Natl Acad Sci U S A. 2022. PMID: 36161950 Free PMC article.
TFG-1 function in protein secretion and oncogenesis.
Witte K, Schuh AL, Hegermann J, Sarkeshik A, Mayers JR, Schwarze K, Yates JR 3rd, Eimer S, Audhya A. Witte K, et al. Among authors: audhya a. Nat Cell Biol. 2011 May;13(5):550-8. doi: 10.1038/ncb2225. Epub 2011 Apr 10. Nat Cell Biol. 2011. PMID: 21478858 Free PMC article.
105 results