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Title:

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Document type:
Article; Journal Article
Author(s):
Wagner, Matias; Osborn, Daniel P S; Gehweiler, Ina; Nagel, Maike; Ulmer, Ulrike; Bakhtiari, Somayeh; Amouri, Rim; Boostani, Reza; Hentati, Faycal; Hockley, Maryam M; Hölbling, Benedikt; Schwarzmayr, Thomas; Karimiani, Ehsan Ghayoor; Kernstock, Christoph; Maroofian, Reza; Müller-Felber, Wolfgang; Ozkan, Ege; Padilla-Lopez, Sergio; Reich, Selina; Reichbauer, Jennifer; Darvish, Hossein; Shahmohammadibeni, Neda; Tafakhori, Abbas; Vill, Katharina; Züchner, Stephan; Kruer, Michael C; Winkelmann, Julia...     »
Abstract:
Alterations of Ca2+ homeostasis have been implicated in a wide range of neurodegenerative diseases. Ca2+ efflux from the endoplasmic reticulum into the cytoplasm is controlled by binding of inositol 1,4,5-trisphosphate to its receptor. Activated inositol 1,4,5-trisphosphate receptors are then rapidly degraded by the endoplasmic reticulum-associated degradation pathway. Mutations in genes encoding the neuronal isoform of the inositol 1,4,5-trisphosphate receptor (ITPR1) and genes involved in inos...     »
Journal title abbreviation:
Nat Commun
Year:
2019
Journal volume:
10
Journal issue:
1
Fulltext / DOI:
doi:10.1038/s41467-019-12620-9
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/31636353
Print-ISSN:
2041-1723
TUM Institution:
611; Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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