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Cryptic amyloidogenic elements in the 3' UTRs of neurofilament genes trigger axonal neuropathy.

Am J Hum Genet.. 2016-04; 
Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, Sweeney MG, Holton JL, Hanna M, Dallman JE, Auer-Grumbach M, Reilly MM, Zuchner S.
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Mutagenesis Services ... ORF3) (GFP-FS- NEFH), as identified in family UK1 (p.Asp1004Glnfs*58). The gene encoding human NEFH was synthesized by GenScript. Site- directed mutagenesis was used for generating the affected individual's variant ... Get A Quote

摘要

Abnormal protein aggregation is observed in an expanding number of neurodegenerative diseases. Here, we describe a mechanism for intracellular toxic protein aggregation induced by an unusual mutation event in families affected by axonal neuropathy. These families carry distinct frameshift variants in NEFH (neurofilament heavy), leading to a loss of the terminating codon and translation of the 3' UTR into an extra 40 amino acids. In silico aggregation prediction suggested the terminal 20 residues of the altered NEFH to be amyloidogenic, which we confirmed experimentally by serial deletion analysis. The presence of this amyloidogenic motif fused to NEFH caused prominent and toxic protein aggregates in transfected... More

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