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Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation

26 Jul 2024

Abstract excerpt

Whether neurodevelopmental defects underlie postnatal neuronal death in neurodegeneration is an intriguing hypothesis only recently explored. Here, we focus on spinal muscular atrophy (SMA), a neuromuscular disorder caused by reduced survival of motor neuron (SMN) protein levels leading to spinal motor neuron (MN) loss and muscle wasting. Using the first isogenic patient-derived induced pluripotent stem cell...

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PMID: 39067446
DOI: 10.1016/j.xcrm.2024.101659

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