Bilal Ahmad Malik

Conserved Aberrant Developmental Trajectories of Human and Mouse SBMA Motor Neurons

This study identifies conserved transcriptional changes in motor neurons from human and mouse SBMA models, revealing shared dysregulation in pathways like spliceosome, cell cycle, and mitochondrial function across developmental and disease stages.

Processivity and BDNF-dependent modulation of signalling endosome axonal transport are impaired in aged mice

The paper investigates how aging affects signaling endosome transport in motor axons and finds that processivity is impaired, which is not rescued by BDNF treatment due to reduced TrkB receptor expression.

Plasma pNfH differentiate SBMA from ALS

The paper measures plasma pNfH levels in SBMA and ALS patients, finding no increase in SBMA but a significant increase in ALS, suggesting pNfH could differentiate the two diseases.

Post-transcriptional remodelling is temporally deregulated during motor neurogenesis in human ALS models

The paper identifies post-transcriptional changes during motor neurogenesis in ALS models, showing premature intron retention in VCP-mutant cells and similar effects in SOD1 and FUS mutations.