Christopher J. Minnis

Targeted long-read RNA sequencing reveals the complexity of CLN3 transcription and the consequences of the most common 1-kb deletion in patients with juvenile CLN3 disease

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.

CLN3 transcript complexity revealed by long-read RNA sequencing analysis

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.

The Batten disease protein CLN3 is important for stress granules dynamics and translational activity.

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