BACKGROUND
Loss-of-function variants in SRRM2, encoding the spliceosomal protein SRm300 involved in pre-messenger RNA splicing, have recently been associated with a neurodevelopmental disorder. Although seizures have been reported in some affected individuals, the electroclinical phenotype of SRRM2-related epilepsy has...
Daniel Fouz-Ruiz, Á. Beltrán-Corbellini, B. D. de Vries et al.· European journal of paediatr...· 0 citations
A robust RNA biomarker for T-loop ReNU syndrome for use in therapeutic development is defined, and a general framework for portable biomarker discovery in spliceopathies is illustrated.
Ruebena Dawes, A. Blakes, Theodora Markati et al.· medRxiv· 0 citations
It is demonstrated that CHD2 dosage bidirectionally regulates lysosomal function and autophagosome flux to set the tempo of neuronal maturation, and that CHD2 and lysosomal homeostasis constitute a critical molecular axis regulating the pace of cortical development across evolution and disease.
O. Leonardi, E. Lewerissa, Davide Aprile et al.· bioRxiv· 3 citations
The results expand the genetic and clinical spectrum of CLCN3-related disease, provide a solid basis for genetic counseling, and uncover an unexpected link between gating-associated conformational changes and inhibition by TMEM9.
Maya M. Polovitskaya, T. Tkemaladze, L. Jensen et al.· EMBO Molecular Medicine· 0 citations
A case series of an additional 13 affected individuals with RNF13 variants (2 missense, 11 truncating) supports and broadens previous reports and helps to define a narrow but critical region of the protein that is intolerant to truncating variation, although the gene is not highly constrained.
D. Latner, S. Hiatt, C. Finnila et al.· American Journal of Medical...· 0 citations
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