Varaico: Literature-Extracted Genetic Variants

Gene:MASP2
Variant:p.P301L
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MASP2

NM_006610.4:p.P301L

Associated Papers

Photodynamic studies reveal rapid formation and appreciable turnover of tau inclusions.

Croft CL et al.

Acta Neuropathologica, 2021

Ectopic Expression Induces Abnormal Somatodendritic Distribution of Tau in the Mouse Brain.

Kubo A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2019

TIA1 regulates the generation and response to toxic tau oligomers.

Jiang L et al.

Acta Neuropathologica, 2019

APP/Go protein Gβγ-complex signaling mediates Aβ degeneration and cognitive impairment in Alzheimer's disease models.

Bignante EA et al.

Neurobiology of Aging, 2018

Depletion of Progranulin Reduces GluN2B-Containing NMDA Receptor Density, Tau Phosphorylation, and Dendritic Arborization in Mouse Primary Cortical Neurons.

Longhena F et al.

The Journal of Pharmacology and Experimental Therapeutics, 2017

Human P301L-mutant tau expression in mouse entorhinal-hippocampal network causes tau aggregation and presynaptic pathology but no cognitive deficits.

Harris JA et al.

Plos One, 2012

Hyperphosphorylation of tau and neurofilaments and activation of CDK5 and ERK1/2 in PTEN-deficient cerebella.

Nayeem N et al.

Molecular and Cellular Neurosciences, 2007

Cyclin-dependent kinase inhibitors attenuate protein hyperphosphorylation, cytoskeletal lesion formation, and motor defects in Niemann-Pick Type C mice.

Zhang M et al.

The American Journal of Pathology, 2004

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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."