Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy
Abstract Autosomal dominant missense mutations in BICD2 cause Spinal Muscular Atrophy Lower Extremity Predominant 2 (SMALED2), a developmental disease of motor neurons. BICD2 is a key component of the cytoplasmic dynein/dynactin motor complex, which in axons drives the microtubule-dependent retrogra...
मुख्य लेखकों: | , , , , , , |
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स्वरूप: | लेख |
भाषा: | English |
प्रकाशित: |
BMC
2020-03-01
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श्रृंखला: | Acta Neuropathologica Communications |
विषय: | |
ऑनलाइन पहुंच: | http://link.springer.com/article/10.1186/s40478-020-00909-6 |