Pathomechanisms in the neuronal ceroid lipofuscinoses.
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TLDR
While the NCLs share many common down-stream pathologies, there is a growing body of evidence for unique pathogenic pathways in each form and new lessons learnt about unique NCL pathomechanisms will be key for informing the targeting, timing and strategies for future treatments.About:
This article is published in Biochimica et Biophysica Acta.The article was published on 2020-09-01 and is currently open access. It has received 41 citations till now. The article focuses on the topics: Cellular homeostasis & TFEB.read more
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Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Jerry R. Mendell,Jerry R. Mendell,Samiah Al-Zaidy,Louise R. Rodino-Klapac,Kimberly Goodspeed,Steven J. Gray,Christine N. Kay,Sanford L. Boye,Shannon E. Boye,Lindsey A. George,Stephanie Salabarria,Manuela Corti,Barry J. Byrne,Jacques P. Tremblay +13 more
TL;DR: This review is limited to gene therapy using adeno-associated virus (AAV) because the gene delivered by this vector does not integrate into the patient genome and has a low immunogenicity.
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Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy
TL;DR: The involvement of CTSs in inherited lysosomal storage disorders, with a primary focus to the emerging evidence on the role of C TSs in the pathophysiology of Mucopolysaccharidoses (MPSs), is highlighted.
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Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy
Nicola Specchio,Alessandro Ferretti,Marina Trivisano,Nicola Pietrafusa,Chiara Pepi,Chiara Pepi,Costanza Calabrese,Susanna Livadiotti,Alessandra Simonetti,Paolo Rossi,Paolo Rossi,Paolo Curatolo,Federico Vigevano +12 more
TL;DR: An overview of genetics for each CLN disease is provided, and the current understanding from pre-clinical and clinical study of potential therapeutics is discussed, to slow or even halt disease progression.
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Sex- and region-biased depletion of microglia/macrophages attenuates CLN1 disease in mice
TL;DR: A detrimental impact of innate immune reactions in the CNS of CLN1 mice is demonstrated and this findings provide insights into CLN pathogenesis and may guide in the design of immunomodulatory treatment strategies.
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Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum.
TL;DR: Understanding of the molecular networking of NCL proteins is highlighted to help set the stage for future work to reveal the cellular mechanisms underlying the NCLs.
References
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Signals from the lysosome: a control centre for cellular clearance and energy metabolism.
TL;DR: The identification of a master regulator, transcription factor EB (TFEB), that regulates lysosomal biogenesis and autophagy has revealed how the lyssome adapts to environmental cues, such as starvation, and targeting TFEB may provide a novel therapeutic strategy for modulating lysOSomal function in human disease.
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Microglia Function in the Central Nervous System During Health and Neurodegeneration.
Marco Colonna,Oleg Butovsky +1 more
TL;DR: The complexity of targeting microglia for therapeutic intervention in neurodegenerative diseases is highlighted and the spectrum of microglial phenotypes during development, homeostasis, and disease is characterized.
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Microglia in Physiology and Disease
TL;DR: The diversity of microglia phenotypes and their responses in health, aging, and disease are described and treatment options that modulate microglial phenotypes are discussed.
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Autophagy gone awry in neurodegenerative diseases
Esther Wong,Ana Maria Cuervo +1 more
TL;DR: Examples of different types of autophagic dysfunction described in common neurodegenerative disorders are presented and the prospect of exploring some of the recently identified Autophagic variants and the interactions among autphagic and non-autophagic proteolytic systems as possible future therapeutic targets are discussed.