Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of
adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the …

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and
gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding …

Neurodegenerative diseases can occur so early as to affect neurodevelopment. From a
cohort of more than 2,000 consanguineous families with childhood neurological disease, we …

Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders
with prenatal onset. The common characteristics are cerebellar hypoplasia with variable …

Objective Systemic lupus erythematosus (SLE) is a prototype autoimmune disease that is
assumed to occur via a complex interplay of environmental and genetic factors. Rare causes of …

Mutations in spastin are the most common cause of hereditary spastic paraplegia (HSP) but
the mechanisms by which mutant spastin induces disease are not clear. Spastin functions to …

Background We recently observed mutations in ADAR1 to cause a phenotype of bilateral
striatal necrosis (BSN) in a child with the type I interferonopathy Aicardi-Goutières syndrome (…

Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic
causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of …

Background A reduction of ADA2 activity due to autosomal recessive loss of function
mutations in CECR1 results in a newly described vasculopathic phenotype reminiscent of …

The structure of proline prevents it from adopting an optimal position for rapid protein synthesis.
Poly-proline-tract (PPT) associated ribosomal stalling is resolved by highly conserved …