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

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...

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Bibliografski detalji
Glavni autori: Alexander M. Rossor, James N. Sleigh, Michael Groves, Francesco Muntoni, Mary M. Reilly, Casper C. Hoogenraad, Giampietro Schiavo
Format: Članak
Jezik:English
Izdano: BMC 2020-03-01
Serija:Acta Neuropathologica Communications
Teme:
Spinal muscular atrophy
SMALED2
Hereditary motor neuropathy
BICD2
DYNC1H1
Muscle
Online pristup:http://link.springer.com/article/10.1186/s40478-020-00909-6

Internet

http://link.springer.com/article/10.1186/s40478-020-00909-6

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