Neuroscience
Ekaterina Rogaeva, Yan Meng, Joseph H Lee, Yongjun Gu, Toshitaka Kawarai, et al. (2007). The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nature Genetics, Published online: 14 January 2007; | doi:10.1038/ng1943.
The recycling of the amyloid precursor protein (APP) from the cell surface via the endocytic pathways plays a key role in the generation of amyloid peptide (A) in Alzheimer disease. We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease. These variants, which occur in at least two different clusters of intronic sequences within the SORL1 gene (also known as LR11 or SORLA) may regulate tissue-specific expression of SORL1. We also show that SORL1 directs trafficking of APP into recycling pathways and that when SORL1 is underexpressed, APP is sorted into A-generating compartments. These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease.
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Neuroscience
Neuropsychology Abstract of the Day: SORL1 and Alzheimer Disease
Ekaterina Rogaeva, Yan Meng, Joseph H Lee, Yongjun Gu, Toshitaka Kawarai, et al. (2007). The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nature Genetics, Published online: 14 January 2007; | doi:10.1038/ng1943.
The recycling of the amyloid precursor protein (APP) from the cell surface via the endocytic pathways plays a key role in the generation of amyloid peptide (A) in Alzheimer disease. We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease. These variants, which occur in at least two different clusters of intronic sequences within the SORL1 gene (also known as LR11 or SORLA) may regulate tissue-specific expression of SORL1. We also show that SORL1 directs trafficking of APP into recycling pathways and that when SORL1 is underexpressed, APP is sorted into A-generating compartments. These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease.
- Alzheimer's Disease
In Preventing Alzheimer’s, Mutation May Aid Drug Quest The New York Times By GINA KOLATA 11 July 2012 [snip] Two decades ago, researchers began discovering rare gene mutations that cause Alzheimer’s disease in all who inherit them. Now, they have...
- Neuropsychology Abstract Of The Day: Alzheimer's Disease
Amyloid-beta levels are significantly reduced and spatial memory defects are rescued in a novel neuroserpin-deficient Alzheimer's disease transgenic mouse model J Neurochem. 2011 Sep; 118(5): 928-38 Authors: Fabbro S, Schaller K, Seeds NW Abstract...
- Neuropsychology Abstract Of The Day: Alzheimer Drug Development
Today's recommended article to read; abstract from PubMed: Bergmans BA & De Strooper B. gamma-secretases: From cell biology to therapeutic strategies. Lancet Neurology. 2010 Feb; 9(2 ): 215-226. Department of Molecular and Developmental Genetics,...
- World Alzheimer's Day
Today is World Alzheimer's Day. Read something today to increase your knowledge about the disease and dementia. Here's a general-readership resource: Alzheimer's Disease: Unraveling the Mystery ... and a report from the Alzheimer's Association:...
- Alzheimer's Disease: Advances In Genetic Understanding
A report from The Guardian about ongoing genetics research in Alzheimer's disease: Alzheimer's research links three genes to disease Findings hailed as 'huge step' towards earlier testing and better treatment for Alzheimer's Ian Sample,...