Molecules and Cells

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

Autism-associated NRXN1α deletion rewires the H3K27me3 landscape and epigenetically disrupts human neural induction

Findings indicate that NRXN1α deletion disrupts neural lineage commitment through a multi-layered disruption involving spliceosome dysregulation of chromatin regulatory genes, H3K27me3 redistribution at developmental promoters, and chromatin-level priming into non-neural fates.

Cross-species functional analysis of a de novo DCLK1 variant associated with a neurodevelopmental disorder

The findings implicate DCLK1 in a previously unrecognized progressive neurodevelopmental disorder and demonstrate the power of integrative cross-species functional genomics in resolving ultra-rare disease variants.

The m6A-mediated epi-transcriptomic dysregulation drives synaptic dysfunction in fragile X syndrome.

It is demonstrated that FMRP deficiency drives the aberrant translational upregulation of core m6A writers, a causal relationship definitively validated using CGG-corrected isogenic control lines and suggest a promising avenue for m6A-targeted therapies.

Integrated morphological, multi-omics, and functional profiling reveals microglial plasticity driven by AD risk genes

It is shown that depletion of these AD risk genes disrupts baseline morpho-transcriptomic coupling and fundamentally alters microglial phagocytic capacity, revealing how AD GWAS genes may drive microglia into dysfunctional states characterized by altered morphology, distinct multi-omic signatures, and impaired function...

Comparative Transcriptomics Reveals Shared Downstream Pathways in Craniofacial Pathology.

It is possible to hypothesize that shared chaperone-associated transcriptional changes, together with altered ECM-related gene expression, may contribute to polr1c- and sf3b4-associated craniofacial disorders, warranting further functional validation.