Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis

2014/03/11 by Julia K. Götzl, Julia K Götzl, Kohji Mori +19 · 28 citations
Medicine · #Amyotrophic Lateral Sclerosis Research #Parkinson's Disease Mechanisms and Treatments #Neurogenetic and Muscular Disorders Research

paper · doi:10.1007/s00401-014-1262-6

Citations

• Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

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• Peripheral expression of brain-penetrant progranulin rescues pathologies in mouse models of frontotemporal lobar degeneration
• Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia. [europepmc]
• Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation. [europepmc]
• Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease. [europepmc]
• What we know about TMEM106B in neurodegeneration. [europepmc]
• ER stress and impaired autophagy flux in neuronal degeneration and brain injury. [europepmc]
• Opposing effects of progranulin deficiency on amyloid and tau pathologies via microglial TYROBP network. [europepmc]
• Progranulin, lysosomal regulation and neurodegenerative disease. [europepmc]
• Regulation of cathepsin D activity by the FTLD protein progranulin. [europepmc]
• Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice. [europepmc]
• Progranulin deficiency causes impairment of autophagy and TDP-43 accumulation. [europepmc]
• Intracellular Proteolysis of Progranulin Generates Stable, Lysosomal Granulins that Are Haploinsufficient in Patients with Frontotemporal Dementia Caused by GRN Mutations. [europepmc]
• Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency. [europepmc]
• Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis. [europepmc]
• The lysosomal function of progranulin, a guardian against neurodegeneration. [europepmc]
• Early lysosomal maturation deficits in microglia triggers enhanced lysosomal activity in other brain cells of progranulin knockout mice. [europepmc]
• CSF progranulin increases in the course of Alzheimer's disease and is associated with sTREM2, neurodegeneration and cognitive decline. [europepmc]
• Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy. [europepmc]
• Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism. [europepmc]
• Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. [europepmc]
• ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function. [europepmc]
• Loss of TMEM106B and PGRN leads to severe lysosomal abnormalities and neurodegeneration in mice. [europepmc]
• Physiological and pathological functions of TMEM106B: a gene associated with brain aging and multiple brain disorders. [europepmc]
• Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis. [europepmc]
• Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic. [europepmc]
• Loss of TREM2 rescues hyperactivation of microglia, but not lysosomal deficits and neurotoxicity in models of progranulin deficiency. [europepmc]