publication . Article . 2014

DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy

Elizabeth Fisher;
Open Access
  • Published: 22 Apr 2014 Journal: Brain, volume 137, pages 1,883-1,893 (issn: 0006-8950, eissn: 1460-2156, Copyright policy)
  • Publisher: Oxford University Press (OUP)
  • Country: United Kingdom
Abstract
Mutations in the gene encoding the heavy chain subunit (DYNC1H1) of cytoplasmic dynein cause spinal muscular atrophy with lower extremity predominance, Charcot–Marie–Tooth disease and intellectual disability. We used the legs at odd angles ( Loa ) (DYNC1H1F580Y) mouse model for spinal muscular atrophy with lower extremity predominance and a combination of live-cell imaging and biochemical assays to show that the velocity of dynein-dependent microtubule minus-end (towards the nucleus) movement of EGF and BDNF induced signalling endosomes is significantly reduced in Loa embryonic fibroblasts and motor neurons. At the same time, the number of the plus-end (towards ...
Subjects
free text keywords: Clinical Neurology, Kinase, Spinal muscular atrophy, medicine.disease, medicine, Mitogen-activated protein kinase, biology.protein, biology, Signal transduction, Spinal muscular atrophy with lower extremity predominance, MAPK/ERK pathway, Neuroscience, Mutation, medicine.disease_cause, Extracellular, QH0501
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publication . Article . 2014

DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy

Elizabeth Fisher;