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Article

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

Brain : a journal of neurology - 1 Jul 2014

Garrett Caroline A, Barri Muruj, Kuta Anna, Soura Violetta, Deng Wenhan, Fisher Elizabeth M C, Schiavo Giampietro, Hafezparast Majid

Abstract excerpt

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) (DYNC1H1(F580Y)) mouse model for spinal muscular atrophy with lower extremity predominance and a combination of live-cell imaging and biochemical assays to show that the...

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Identifiers

PMID: 24755273
DOI: 10.1093/brain/awu097

Genes

BDNF
EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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