Article

Disruption of the PAR3/INSC/LGN complex causes microtubule instability and peripheral neuropathy

2023-08-31

Abstract excerpt

PAR3/INSC/LGN form an evolutionarily conserved complex required for asymmetric cell division in the developing brain, but its post-developmental function and disease relevance in the peripheral nervous system (PNS) remains unknown. We mapped a new locus for axonal Charcot-Marie-Tooth disease (CMT2) and identified a missense mutation c.209T>G (p.Met70Arg) in the INSC ( INSC ) gene. Modelling the INSC M70R variant i...

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Literature Corpus work: fa999341-5a60-5c0b-a8ac-f2d76be8ffe7
DOI: 10.1101/2023.08.30.23294746

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