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

PubWeight™: 0.79‹?›

🔗 View Article (PMID 27040688)

Published in Am J Hum Genet on March 31, 2016

Authors

Adriana P Rebelo1, Alexander J Abrams1, Ellen Cottenie2, Alejandro Horga2, Michael Gonzalez1, Dana M Bis1, Avencia Sanchez-Mejias1, Milena Pinto1, Elena Buglo1, Kasey Markel3, Jeffrey Prince3, Matilde Laura2, Henry Houlden4, Julian Blake5, Cathy Woodward2, Mary G Sweeney6, Janice L Holton2, Michael Hanna2, Julia E Dallman3, Michaela Auer-Grumbach7, Mary M Reilly2, Stephan Zuchner8

Author Affiliations

1: Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
2: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
3: Department of Biology, University of Miami, Miami, FL 33146, USA.
4: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
5: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich NR4 7UY, UK.
6: Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
7: Department of Orthopaedics, Medical University Vienna, 1090 Vienna, Austria.
8: Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA. Electronic address: szuchner@med.miami.edu.

Articles cited by this

The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry (1988) 14.72

Protein aggregation and neurodegenerative disease. Nat Med (2004) 9.51

Prediction of sequence-dependent and mutational effects on the aggregation of peptides and proteins. Nat Biotechnol (2004) 7.02

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet (2004) 3.00

Protein aggregation diseases: pathogenicity and therapeutic perspectives. Nat Rev Drug Discov (2010) 2.58

Proteomics of early zebrafish embryos. BMC Dev Biol (2006) 2.36

Neurofilament gene expression: a major determinant of axonal caliber. Proc Natl Acad Sci U S A (1987) 2.36

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat (2013) 2.23

UTRdb and UTRsite (RELEASE 2010): a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs. Nucleic Acids Res (2009) 2.11

Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy. Ann Neurol (2000) 2.01

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. Ann Neurol (2009) 1.83

Alzheimer's disease: Abeta, tau and synaptic dysfunction. Trends Mol Med (2005) 1.78

FoldAmyloid: a method of prediction of amyloidogenic regions from protein sequence. Bioinformatics (2009) 1.59

Neurotoxic effects associated with antibiotic use: management considerations. Br J Clin Pharmacol (2011) 1.57

Binding mode of Thioflavin T and other molecular probes in the context of amyloid fibrils-current status. J Chem Biol (2009) 1.55

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet (1999) 1.54

Sense from nonsense: therapies for premature stop codon diseases. Trends Mol Med (2012) 1.43

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet (1994) 1.42

Mechanisms of mitochondria-neurofilament interactions. J Neurosci (2003) 1.41

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain (2003) 1.40

Aggregation of N-terminal huntingtin is dependent on the length of its glutamine repeats. Hum Mol Genet (1998) 1.38

Protein aggregation in amyotrophic lateral sclerosis. Acta Neuropathol (2013) 1.32

A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. Hum Mol Genet (2005) 1.21

Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. Hum Mol Genet (2002) 1.16

Innovative genomic collaboration using the GENESIS (GEM.app) platform. Hum Mutat (2015) 1.12

Neurofilament proteins in neurodegenerative diseases. Cell Mol Life Sci (2004) 1.12

Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport. J Neurochem (2005) 1.11

PASTA 2.0: an improved server for protein aggregation prediction. Nucleic Acids Res (2014) 1.04

AGGRESCAN: method, application, and perspectives for drug design. Methods Mol Biol (2012) 1.01

Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. Hum Mol Genet (2007) 1.00

A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport. Mol Neurodegener (2010) 0.97

nkx2.2a promotes specification and differentiation of a myelinating subset of oligodendrocyte lineage cells in zebrafish. Neuron Glia Biol (2008) 0.92

Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation. Arch Neurol (1999) 0.91

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature. Am J Med Genet (2002) 0.89

Neurofilament (NF) assembly; divergent characteristics of human and rodent NF-L subunits. J Biol Chem (1998) 0.89

A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease. Hum Genomics (2011) 0.88

Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND). Eur J Hum Genet (2004) 0.82

Role of neurofilament aggregation in motor neuron disease. Ann Neurol (2006) 0.81

Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin. Hum Mol Genet (2014) 0.81

NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. J Neurol (2015) 0.81

How our bodies fight amyloidosis: effects of physiological factors on pathogenic aggregation of amyloidogenic proteins. Arch Biochem Biophys (2015) 0.79

Toxic neurofilamentous axonopathies -- accumulation of neurofilaments and axonal degeneration. J Intern Med (2013) 0.78

Increased severity over generations of Charcot-Marie-Tooth disease type 1A. J Neurol (2008) 0.78

Articles by these authors

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet (2014) 0.98