Helen S. Bateup

The paper generates a collection of 65 isogenic human stem cell lines with PD-associated mutations to study Parkinson's disease, revealing that most genetic variation comes from cell culture rather than genome editing.

This study creates an isogenic single-cell atlas of familial Parkinson's disease mutations, revealing shared transcriptional changes in dopamine neurons across diverse genetic backgrounds.

This study identifies GRP/GRPR signaling in the nucleus accumbens medial shell as a regulator of neuronal excitability and motivation.

This study shows that loss of Cntnap2 in mice leads to increased striatal neuron excitability and behavioral inflexibility associated with ASD.

This study shows that mTORC1 activation in astrocytes drives reactivity in cortical tubers and brain organoids, linking it to TSC pathology.

The paper investigates how familial Parkinson's disease mutations affect pre-mRNA splicing in dopaminergic neurons, identifying five functional classes of splicing changes and potential biomarkers and therapeutic targets.

The paper shows that STAT3, downstream of mTORC1, regulates astroglia generation in human brain organoids, but mTORC1 is not required for cytokine-induced STAT3 activation.

This paper compares prime editing efficiency to conventional methods in human pluripotent stem cells, showing higher efficiency with optimized mRNA delivery for mutation correction and introduction.

This study shows that reducing Raptor, a component of mTORC1, improves TSC-related brain phenotypes in mouse models, suggesting it as a potential therapeutic target.

This paper introduces Cal-ID, a tool that records calcium signaling and neuronal activity by biotinylating nearby proteins, enabling high-resolution molecular mapping.

This study investigates how mTORC1 and mTORC2 differentially regulate dopamine neuron morphology and function in mice, revealing distinct effects on structure, excitability, and dopamine output.

The paper introduces a DAT-Flp mouse line to selectively label dopaminergic subpopulations using intersectional genetic strategies.

This study shows that loss of Tsc1 in midbrain dopamine neurons leads to structural and functional defects, causing cognitive flexibility deficits that can be mitigated by reducing Raptor.