Charles Arber

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.

This study compares the effects of PSEN1 and PSEN2 knockout in iPSC-derived brain cells, finding distinct impacts on endo-lysosomal systems and APP cleavage.

The paper generates and characterizes a custom genome assembly for the KOLF2.1J iPSC line to improve genomic analysis accuracy compared to standard references.

The paper uses data-driven analysis of amyloid-beta peptides to identify biomarkers for familial Alzheimer's disease and predict age-at-onset in PSEN1 mutation carriers.

This study shows that PSEN1 mutations disrupt regulated intramembrane proteolysis in astrocytes, leading to enhanced inflammatory responses and contributing to familial Alzheimer's disease progression.

The paper identifies novel APP transcripts that generate Aβ independently of β-secretase, showing their expression and presence in CSF.

This study shows microglia produce ABri peptide in FBD, contributing to amyloid plaques and neurodegeneration, and suggests ITM2B/BRI2 is involved in microglial disease responses.

This study shows that oligodendrocytes produce amyloid beta in Alzheimer's Disease and that suppressing this production improves brain pathology and neuronal function.

The paper shows that sequencing ambiguity between GBA1 and its pseudogene GBAP1 affects transcriptomic analysis, revealing non-lysosomal functions in the brain and widespread annotation inaccuracies.

The paper examines how TREM2 variants affect microglial exosomal proteomes and their functional impact on neurons.

The paper analyzes plasma A{beta} ratios in ADAD mutation carriers and non-carriers, finding significant differences between PSEN1 and APP carriers and associations with parental age at onset.