The role of neurofilament aggregation in neurodegeneration: lessons from rare inherited neurological disorders

Molecular Neurodegeneration

Alessandro Didonna¹  Puneet Opal² 

[1] 0000 0001 2297 6811, grid.266102.1, Department of Neurology and Weill Institute for Neurosciences, University of California at San Francisco, 94158, San Francisco, CA, USA;0000 0001 2299 3507, grid.16753.36, Davee Department of Neurology, Northwestern University Feinberg School of Medicine, 60611, Chicago, IL, USA;0000 0001 2299 3507, grid.16753.36, Department of Cell and Molecular Biology, Northwestern University Feinberg School of Medicine, 60611, Chicago, IL, USA;

关键词: Neurofilaments;    Protein aggregation;    Protein degradation;    Neurodegeneration;    Giant axonal neuropathy (GAN);    Charcot-Marie-tooth (CMT) disease;   

DOI  :  10.1186/s13024-019-0318-4

来源: publisher

【 摘 要 】

Many neurodegenerative disorders, including Parkinson’s, Alzheimer’s, and amyotrophic lateral sclerosis, are well known to involve the accumulation of disease-specific proteins. Less well known are the accumulations of another set of proteins, neuronal intermediate filaments (NFs), which have been observed in these diseases for decades. NFs belong to the family of cytoskeletal intermediate filament proteins (IFs) that give cells their shape; they determine axonal caliber, which controls signal conduction; and they regulate the transport of synaptic vesicles and modulate synaptic plasticity by binding to neurotransmitter receptors. In the last two decades, a number of rare disorders caused by mutations in genes that encode NFs or regulate their metabolism have been discovered. These less prevalent disorders are providing novel insights into the role of NF aggregation in the more common neurological disorders.

【 授权许可】

CC BY