Concepedia

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

Michael E. Ward, Robert Y. Chen, Hsin‐Yi Huang, Connor Ludwig, Maria A. Telpoukhovskaia, Ali Taubes, Hélène Boudin, Sakura Minami, Meredith C. Reichert, Philipp Albrecht,

Science Translational Medicine · 2017 · 196 citations · 25 references

DOIFull text

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Concepts

Abstract

Individuals with heterozygous GRN mutations exhibit clinicopathological hallmarks of neuronal ceroid lipofuscinosis.

References

25

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

Matt Baker, Ian R. Mackenzie, Stuart Pickering‐Brown et al. · Nature · 2006 · 2.1K citations

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Seizures and Epileptiform Activity in the Early Stages of Alzheimer Disease

Keith Vossel, Alexander J. Beagle, Gil D. Rabinovici et al. · JAMA Neurology · 2013 · 744 citations · Full text

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Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation

Hansen Lui, Jiasheng Zhang, Stefanie Ritter Makinson et al. · Cell · 2016 · 736 citations · Full text

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Sortilin-Mediated Endocytosis Determines Levels of the Frontotemporal Dementia Protein, Progranulin

Fenghua Hu, Thihan Padukkavidana, Christian Bjerggaard Vægter et al. · Neuron · 2010 · 579 citations · Full text

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Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice

F Yin, Rebecca Banerjee, Bobby Thomas et al. · The Journal of Experimental Medicine · 2009 · 492 citations · Full text

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