Contents

FUS Mutations in Amyotrophic Lateral Sclerosis

Disease Info

Inheritance	Autosomal dominant
Transcription regulation	Acts as a transcriptional activator, interacting with RNA polymerase II and various transcription factors
Alternative splicing	Regulates the splicing of numerous neuronal transcripts through interaction with splicing factors
RNA transport	Facilitates transport of mRNAs to dendritic and axonal compartments
Translation regulation	Modulates translation at synapses
DNA damage response	Participates in non-homologous end joining and other DNA repair pathways
Stress granule formation	FUS is a key component of stress granules, cytoplasmic RNA-protein assemblies that form during cellular stress
Penetrance	Near complete but age-dependent
De novo mutations	Common, particularly for severe mutations like P525L
Anticipation	Not typically observed
Founder effects	Identified in some populations
N-terminal mutations	Less common, affect aggregation propensity
Databases	OMIM Orphanet ClinicalTrials PubMed

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