2021
DOI: 10.1016/j.isci.2021.102841
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Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X

Abstract: Summary Current studies estimate that 1–3% of females with unexplained intellectual disability (ID) present de novo splice site, nonsense, frameshift, or missense mutations in the DDX3X protein (DEAD-Box Helicase 3 X-Linked). However, the cellular and molecular mechanisms by which DDX3X mutations impair brain development are not fully comprehended. Here, we show that the ID-linked missense mutation L556S renders DDX3X prone to aggregation. By using a combination of biophysical… Show more

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Cited by 19 publications
(16 citation statements)
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“…al. proposed that the L556S and R376C de novo variants observed in female patients render DDX3X prone to protein aggregation 22 .…”
Section: Discussionmentioning
confidence: 99%
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“…al. proposed that the L556S and R376C de novo variants observed in female patients render DDX3X prone to protein aggregation 22 .…”
Section: Discussionmentioning
confidence: 99%
“…Alternatively, we may lack power to discern such effects, as most phenotyping studies remain small, employ disparate neuropsychometric tests and not all patients are uniformly assessed 11,20,35,36 . It is also notable that DDX3X escapes X-inactivation to a variable degree between individuals [56][57][58] , and a high incidence of severe skewing of X-inactivation has been observed in patients with DDX3X-related neurodevelopmental disorder 11,22 . Such factors will affect variant expressivity and may obfuscate identification of genotype-phenotype relationships.…”
Section: Discussionmentioning
confidence: 99%
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