David J. Elliott

Siglec-engaging immunosuppressive sialoglycans are upregulated in prostate cancer and are targetable to suppress bone metastasis

This study identifies Siglec-engaging sialoglycans as upregulated in prostate cancer and shows they can be targeted to suppress bone metastasis using a bisialidase.

An anciently diverged family of RNA binding proteins maintain correct splicing of a class of ultra-long exons through cryptic splice site repression

This study shows RBMX and RBMXL2 proteins regulate splicing of ultra-long exons by repressing cryptic splice sites, with RBMXL2 rescuing splicing defects in somatic cells.

A de novo paradigm for male infertility

The paper identifies de novo mutations as a significant genetic cause of male infertility, finding several candidate genes and an enrichment of loss-of-function and missense mutations in intolerant genes.

RBMX enables productive RNA processing of ultra-long exons important for genome stability

The paper shows RBMX prevents non-productive splicing of ultra-long exons, maintaining genome stability by blocking aberrant splice sites in genes like ETAA1.

Androgen-regulated transcription of ESRP2 drives alternative splicing patterns in prostate cancer

The paper shows androgen-regulated ESRP2 transcription controls alternative splicing in prostate cancer, with implications for metastasis.

SUPPA2 provides fast, accurate, and uncertainty-aware differential splicing analysis across multiple conditions

Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosa

The paper generates patient-specific retinal organoids and RPE from RP type 11 patients to show PRPF31 mutations cause retinal-specific splicing defects and structural/functional impairments, which are corrected by in situ gene editing.