help  | about  | cite  | software

Publication : The intracellular accumulation of polymeric neuroserpin explains the severity of the dementia FENIB.

First Author  Miranda Elena Year  2008
Journal  Hum. Mol. Genet. Volume  17
Pages  1527-39 PubMed ID  18267959
Abstract Text  Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is an autosomal dominant dementia that is characterized by the retention of polymers of neuroserpin as inclusions within the endoplasmic reticulum (ER) of neurons. We have developed monoclonal antibodies that detect polymerized neuroserpin and have used COS-7 cells, stably transfected PC12 cell lines and transgenic Drosophila melanogaster to characterize the cellular handling of all four mutant forms of neuroserpin that cause FENIB. We show a direct correlation between the severity of the disease-causing mutation and the accumulation of neuroserpin polymers in cell and fly models of the disease. Moreover, mutant neuroserpin causes locomotor deficits in the fly allowing us to demonstrate a direct link between polymer accumulation and neuronal toxicity. Doi  10.1093/hmg/ddn041
Issue  11 Month  Jun

Publication Annotations Displayer

2 Entities

17 Mesh Terms