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ProteomicsDual molecular mechanisms and functional compensation by RBMXL1 retrocopy underlie RBMX-associated neurodevelopmental syndrome
Genetic variants in RBMX may cause X-linked neurodevelopmental syndromes, but their pathogenicity and mechanisms remain unclear. Here, we provide definitive evidence from nine unrelated families that RBMX variants lead to neurodevelopmental disorders characterised by intellectual disability, brain m...
ORGANISM(S): Homo sapiens (Human) 
2026-07-28 | PXD066823 | Pride
Neurodevelopmental disorder Evolution Splicing Rbmx Rbmxl1 retrocopy 
ProteomicsGGC repeat expansions within novel open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy
3 to 6% of the human genome is composed of microsatellite sequences, which are short DNA elements composed of 2 to 6 nucleotide motifs repeated in tandem. Expansion of a subset of these microsatellites is the leading cause of >60 diseases. However, most of these mutations are located in sequences an...
ORGANISM(S): Homo sapiens (Human) 
2026-02-03 | PXD071983 | Pride
Polyglycine protein Oculopharyngodistal myopathy Microsatellite sequences 
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