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Article

Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy

17 Mar 2020

Abstract excerpt

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 retrograde transport of intracellular cargo towards the cell soma. Patients with pathological mutations in BICD2 develop...

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PMID: 32183910
DOI: 10.1186/s40478-020-00909-6

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Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophyPMID 32183910Read ↗

Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophySemantic proximity Read ↗

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