In:
The EMBO Journal, EMBO, Vol. 35, No. 8 ( 2016-04-15), p. 845-865
Abstract:
image The degeneration of motoneurons in ALS is associated with a chronic endoplasmic reticulum (ER) stress response. Here we report the consequences of mutations of two major ER foldases in ALS known as PDIA 1 and ER p57. Expression of these ALS ‐linked mutants trigger some cardinal features of ALS , including the disruption of motoneuron connectivity and function, highlighting ER proteostasis imbalance as a driver of the initial stages of the disease. ALS ‐linked mutations in PDIA 1 and ER p57 adversely affect PDI structure and function. PDI mutants cause abnormal motoneuron morphology and functionality. Targeting of ER p57 in the CNS results in premature death and impaired motor control. ER p57 deficiency causes alterations of neuromuscular junctions.
Type of Medium:
Online Resource
ISSN:
0261-4189
,
1460-2075
DOI:
10.15252/embj.201592224
Language:
English
Publisher:
EMBO
Publication Date:
2016
detail.hit.zdb_id:
1467419-1
detail.hit.zdb_id:
586044-1
SSG:
12
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