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ProteomicsSNCA triplication disrupts proteostasis and extracellular architecture prior to neurodegeneration in human midbrain organoids
Synucleinopathies, including Parkinson’s disease, are characterized by α-synuclein aggregation and progressive neurodegeneration, yet the early molecular events linking SNCA gene dosage to disrupted proteostasis remain poorly understood. Here, we used human midbrain organoids carrying an SNCA tri...
ORGANISM(S): Homo sapiens (Human) 
2026-04-06 | PXD063729 | Pride
Translational control Parkinson's disease (pd) Snca 
ProteomicsGABA/Glutamate neuron differentiation imbalance and increased AKT/mTOR signalling in CNTNAP2-/- cerebral organoids
We developed a human cerebral organoid model derived from induced pluripotent stem cells (iPSCs) with targeted genome editing to abolish protein expression of the Contactin Associated Protein-like 2 (CNTNAP2) autism spectrum disorder (ASD) risk gene, mimicking loss-of-function mutations seen in pati...
ORGANISM(S): Homo sapiens (Human) 
2024-11-19 | PXD051473 | Pride
Cntnap2 Gaba/glutamate. akt/mtor Autism Brain organoids 
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