Nicol Birsa

Glucose concentration of neuronal media formulations influences PINK1-dependent mitophagy in human iNeurons

This study shows that glucose levels in neuronal culture media affect PINK1-dependent mitophagy in human iNeurons, with BrainPhys medium reducing mitophagy compared to N2B27.

Impaired BDNF-TrkB trafficking and signalling in Down syndrome basal forebrain neurons

This study identifies impaired BDNF-TrkB trafficking and signalling in Down syndrome basal forebrain neurons, linking Rab5 hyperactivation to endosomal dysfunction and ERK1/2 signalling deficits.

Characterisation of LAMP1- and LAMP2A-positive organelles in neurons

The paper characterises LAMP1- and LAMP2A-positive organelles in neurons, finding they have distinct transport dynamics and protein compositions.

Innervation and cargo-specific axonal transport impairments in FUS-ALS mice with gain and loss of function

This study identifies sex-dependent motor neuron dysfunction and cargo-specific axonal transport impairments in FUS-ALS mice, linking endosomal transport defects to denervation in ALS.

TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTD

The paper identifies novel cryptic polyadenylation events induced by TDP-43 loss in ALS/FTD using bioinformatic methods and shows their potential disease relevance and impact on protein translation.

FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation

This study shows that FUS-ALS mutants form cytoplasmic condensates that alter FMRP phase separation, leading to translation inhibition in motor neurons.

ALS-FUS mutation affects the activities of HuD/ELAVL4 and FMRP leading to axon phenotypes in motoneurons

This study shows that ALS-FUS mutations disrupt HuD/ELAVL4 and FMRP activities, leading to axon phenotypes in motoneurons through altered transcript stability.

FUS ALS-causative mutations impact FUS autoregulation and the processing of RNA-binding proteins through intron retention

This study identifies how ALS-causative FUS mutations disrupt RNA processing and autoregulation, with implications for broader ALS genetic interactions.

Miro ubiquitination is critical for efficient damage-induced PINK1/Parkin-mediated mitophagy

This study shows that Miro ubiquitination is essential for efficient damage-induced mitophagy, with implications for neurological diseases.