Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene
that prevent the body-wide translation of its protein product, dystrophin. Besides a severe …

Abstract Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD)
characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to …

The RNA-binding protein FUS participates in several RNA biosynthetic processes and has
been linked to the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal …

A common approach to understanding neurodegenerative disease is comparing gene
expression in diseased versus healthy tissues. We illustrate that expression profiles derived …

ABSTRACT RNA-based therapeutics have entered the mainstream with seemingly limitless
possibilities to treat all categories of neurological disease. Here, common RNA-based drug …

Age is the most important risk factor for neurodegeneration; however, the effects of aging
and neurodegeneration on gene expression in the human brain have most often been …

The gene encoding a DNA/RNA binding protein FUS/TLS is frequently mutated in
amyotrophic lateral sclerosis (ALS). Mutations commonly affect its carboxy-terminal nuclear …

Spinal muscular atrophy (SMA) results from reduced levels of the survival of motor neuron
(SMN) protein, which has a well characterized function in spliceosomal small nuclear …

Neurodevelopmental disorders (NDDs) are characterized by aberrant and delayed early-life
development of the brain, leading to deficits in language, cognition, motor behaviour and …

RNA-binding proteins (RBPs) are effectors and regulators of posttranscriptional gene
regulation (PTGR). RBPs regulate stability, maturation, and turnover of all RNAs, often …