Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.S498A
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BACE1

NM_012104.6:p.S498A

Associated Papers

Advances in the cell biology of the trafficking and processing of amyloid precursor protein: impact of familial Alzheimer's disease mutations.

Wang J et al.

The Biochemical Journal, 2024

GGA1 regulates signal-dependent sorting of BACE1 to recycling endosomes, which moderates Aβ production.

Toh WH et al.

Molecular Biology of the Cell, 2018

Dysregulation of protein trafficking in neurodegeneration.

Wang X et al.

Molecular Neurodegeneration, 2014

GGA1 overexpression attenuates amyloidogenic processing of the amyloid precursor protein in Niemann-Pick type C cells.

Kosicek M et al.

Biochemical and Biophysical Research Communications, 2014

Adaptor protein 2-mediated endocytosis of the β-secretase BACE1 is dispensable for amyloid precursor protein processing.

Prabhu Y et al.

Molecular Biology of the Cell, 2012

Demonstration of BACE (beta-secretase) phosphorylation and its interaction with GGA1 in cells by fluorescence-lifetime imaging microscopy.

von Arnim CA et al.

Journal of Cell Science, 2004

Memapsin 2 (beta-secretase) cytosolic domain binds to the VHS domains of GGA1 and GGA2: implications on the endocytosis mechanism of memapsin 2.

He X et al.

Febs Letters, 2002

Phosphorylation regulates intracellular trafficking of beta-secretase.

Walter J et al.

The Journal of Biological Chemistry, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."