The immediate early gene product Arc (activity-regulated cytoskeleton-associated protein)
is posited as a master regulator of long-term synaptic plasticity and memory. However, the …

Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low
clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) gene, …

Activity‐regulated cytoskeleton‐associated protein (Arc) is a protein interaction hub with
diverse roles in intracellular neuronal signaling, and important functions in neuronal synaptic …

Spinocerebellar ataxia, autosomal recessive 16 (SCAR16) is caused by biallelic mutations
in the STIP1 homology and U-box containing protein 1 (STUB1) gene encoding the ubiquitin …

Activity-regulated cytoskeleton-associated protein (Arc) is a multidomain protein of retroviral
origin with a vital role in the regulation of synaptic plasticity and memory formation in …

Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48)
spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical …

Mutations in hydroxymethylbilane synthase (HMBS) cause acute intermittent porphyria (AIP),
an autosomal dominant disease where typically only one HMBS allele is mutated. In AIP, …

… Bustad designed and performed experiments, analysed data, and wrote the paper with
contributions from all authors. Marta Vorland and Eva Rønneseth performed experiments and …

Hydroxymethylbilane synthase (HMBS) is the third enzyme involved in haem biosynthesis,
in which it catalyses the formation of tetrapyrrole 1‐hydroxymethylbilane (HMB). In this …

Mammalian 14-3-3 protein scaffolds include seven conserved isoforms that bind numerous
phosphorylated protein partners and regulate many cellular processes. Some 14-3-3-…