The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease, characterized
genetically by a disproportionately large contribution of rare genetic variation. Driven by …

RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …

Several neurodegenerative disorders like amyotrophic lateral sclerosis (ALS) and
spinocerebellar ataxia (SCA) are caused by non‐coding nucleotide repeat expansions …

Hexanucleotide repeat expansions in C9orf72 are the most common genetic cause of
amyotrophic lateral sclerosis (C9 ALS). The main hypothesized pathogenic mechanisms are …

Nuclear import receptors, also called importins, mediate nuclear import of proteins and
chaperone aggregation-prone cargoes (eg, neurodegeneration-linked RNA-binding …

Frontotemporal dementia (FTD), the second most common form of dementia in people under
65 years of age, is characterized by progressive atrophy of the frontal and/or temporal lobes …

Disruption of nucleocytoplasmic transport is increasingly implicated in the pathogenesis of
neurodegenerative diseases, including ALS caused by a C9orf72 hexanucleotide repeat …

Neurodegenerative diseases (NDs) are becoming increasingly prevalent in the world, with
an aging population. In the last few decades, due to the devastating nature of these …

In Alzheimer's disease (AD), spliceosomal proteins with critical roles in RNA processing
aberrantly aggregate and mislocalize to Tau neurofibrillary tangles. We test the hypothesis …