http://www.ipg.org.br/Rosa_Rademakers_Neuron%20tese%20integra.pdf

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

https://www.hopkinsmedicine.org/neurology_neurosurgery/research/labs/als_center/_docs/rothstein_c9orf72.pdf

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Mechanisms underlying inflammation in neurodegeneration.

A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation

https://www.cell.com/cell/pdf/S0092-8674(15)01176-9.pdf

Phase Separation by Low Complexity Domains Promotes Stress Granule Assembly and Drives Pathological Fibrillization

Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder Ten percent of cases are inherited; most involve unidentified genes We report here 13 mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene on chromosome 16 that were specific for familial ALS The FUS/TLS protein binds to RNA, functions in diverse processes, and is normally located predominantly in the nucleus In contrast, the mutant forms of FUS/TLS accumulated in the cytoplasm of neurons, a pathology that is similar to that of the gene TAR DNA-binding protein 43 (TDP43), whose mutations also cause ALS Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders

/pdf/mutations-in-the-fus-tls-gene-on-chromosome-16-cause-230u9njini.pdf

A. L. LeClerc

Papers

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.