Jacky Guy

Dysfunction of a SET3-like complex underlies a family of related neurological disorders

The paper identifies a dysfunction in the SET3-like complex involving TBLR1, ANKRD11, and SETD5 as a molecular basis for neurodevelopmental disorders.

Pervasive binding of the stem cell transcription factor SALL4 shapes the chromatin landscape

This study shows SALL4 binds across the genome to shape chromatin and gene expression in stem cells.

Tetramerisation governs SALL transcription factor function in development and disease

This study identifies tetramerisation as essential for SALL transcription factor function, showing its role in DNA binding and linking it to developmental disorders.

Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach

The paper identifies that C-terminal deletions in MECP2 cause Rett syndrome by reducing MeCP2 levels due to a specific reading frame shift, and shows a gene-editing strategy to correct this.

A mutation-led search for novel functional domains in MeCP2

The paper investigates the molecular effects of non-canonical MeCP2 mutations in neurons and mice, finding they impact known domains rather than causing new molecular mechanisms of Rett syndrome.