Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.

doi:10.1016/j.ajhg.2016.02.022

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Article

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.

American journal of human genetics - 7 Apr 2016

Rebelo Adriana P, Abrams Alexander J, Cottenie Ellen, Horga Alejandro, Gonzalez Michael, Bis Dana M, Sanchez-Mejias Avencia, Pinto Milena, Buglo Elena, Markel Kasey, Prince Jeffrey, Laura Matilde, Houlden Henry, Blake Julian, Woodward Cathy, Sweeney Mary G, Holton Janice L, Hanna Michael, Dallman Julia E, Auer-Grumbach Michaela, Reilly Mary M, Zuchner Stephan

Abstract excerpt

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...

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Identifiers

PMID: 27040688
DOI: 10.1016/j.ajhg.2016.02.022
PMCID: PMC4833435

Genes

NEFH
FUS
NEFL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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