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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 
ProteomicsEvolution from an intronic Alu insertion generates a human-specific TAF8 isoform contributing to TFIID assembly complexity in the human lineage
Despite its centrality in the regulation of RNA polymerase II transcription in all eukaryotes, the general transcription factor TFIID exhibits several layers of variability in different tissues and developmental stages, representing an underexplored hub of evolutionary innovations. Here we describe ...
ORGANISM(S): Homo sapiens (Human) 
2026-10-28 | PXD072860 | Pride
Ribosomes Isoaspartate Rna modificationspas  intronic polyadenylation  alu  primate  human-specific isoform 
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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