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Truncating mutations in APP cause a distinct neurological phenotype.

Annals of neurology (2016-07-17)
Steven Klein, Alexander Goldman, Hane Lee, Shahnaz Ghahremani, Viraj Bhakta, Stanley F Nelson, Julian A Martinez-Agosto
ABSTRACT

Dominant missense mutations in the amyloid β (Aβ) precursor protein (APP) gene have been implicated in early onset Alzheimer disease. These mutations alter protein structure to favor the pathologic production of Aβ. We report that homozygous nonsense mutations in APP are associated with decreased somatic growth, microcephaly, hypotonia, developmental delay, thinning of the corpus callosum, and seizures. We compare the phenotype of this case to those reported in mouse models and demonstrate multiple similarities, strengthening the role of amyloid precursor protein in normal brain function and development. Ann Neurol 2016;80:456-460.

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Anti-Amyloid Precursor Protein, C-Terminal antibody produced in rabbit, IgG fraction of antiserum, buffered aqueous solution
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