In:
EMBO Molecular Medicine, EMBO, Vol. 9, No. 7 ( 2017-07), p. 890-905
Abstract:
image Loss‐of‐function mutations in the human MPDZ gene lead to congenital hydrocephalus. Here, the generation and examination of mouse models are described that resemble human pathology. Disruption of the murine Mpdz gene causes perinatal‐onset hydrocephalus. Loss of Mpdz impairs expression of the planar cell polarity protein Pals1 in ependymal cells and leads to higher RhoA activity. Loss of Mpdz causes disruption of the ependymal cell layer that lines the ventricular system. Ependymal denudation is associated with astrogliosis and obstruction of the cerebral aqueduct in Mpdz ‐deficient mice.
Type of Medium:
Online Resource
ISSN:
1757-4676
,
1757-4684
DOI:
10.15252/emmm.201606430
Language:
English
Publisher:
EMBO
Publication Date:
2017
detail.hit.zdb_id:
2485479-7
Permalink