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...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों: Alexander M. Rossor, James N. Sleigh, Michael Groves, Francesco Muntoni, Mary M. Reilly, Casper C. Hoogenraad, Giampietro Schiavo
स्वरूप: लेख
भाषा:English
प्रकाशित: BMC 2020-03-01
श्रृंखला:Acta Neuropathologica Communications
विषय:
ऑनलाइन पहुंच:http://link.springer.com/article/10.1186/s40478-020-00909-6