Sara Mole

This study identifies Bro1 as a central integrator linking TOR signalling to metabolic adaptation and longevity in fission yeast.

The paper uses long-read RNA sequencing to analyze CLN3 transcription complexity and the impact of a common 1-kb deletion in juvenile CLN3 disease, revealing multiple transcripts and isoforms.

The paper uses long-read RNA sequencing to analyze CLN3 transcript complexity in healthy samples, identifying over 100 novel transcripts and 48 ORFs, with the canonical isoform being the most abundant.

This study shows that CLN3 deficiency disrupts stress granule dynamics and translation, linking it to neurodegenerative disease mechanisms.

This study identifies a metabolic shift driven by PFKFB3 in CLN7 disease, showing that targeting glycolysis can alleviate disease hallmarks in a mouse model and patient-derived cells.

This study shows that neonatal brain-directed gene therapy using AAV9-CLN6 significantly improves survival, motor function, and reduces neuropathology in a mouse model of CLN6 Batten disease.