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Myotonic Dystrophy type 1 cells display impaired metabolism and mitochondrial dysfunction that are reversed by metformin
(Impact Journals, 2020-04-15)
Myotonic dystrophy type 1 (DM1; MIM #160900) is an autosomal dominant disorder, clinically characterized by progressive muscular weakness and multisystem degeneration. The broad phenotypes observed in patients with DM1 ...
Loss of Dmrt5 Affects the Formation of the Subplate and Early Corticogenesis
(Oxford University Press, 2020-05)
Dmrt5 (Dmrta2) and Dmrt3 are key regulators of cortical patterning and progenitor proliferation and differentiation. In this study, we show an altered apical to intermediate progenitor transition, with a delay in SP ...
Disruption of Oligodendrocyte Progenitor Cells is an Early Sign of Pathology in the Triple Transgenic Mouse Model of Alzheimer's Disease
(Elsevier, 2020-10)
There is increasing evidence that myelin disruption is related to cognitive decline in Alzheimer's disease (AD). In the CNS, myelin is produced by oligodendrocytes, which are generated throughout life by adult oligodendrocyte ...
Metabolic Alterations in Plasma from Patients with Familial and Idiopathic Parkinson's Disease
(Impact Journals LLC, 2020-09-15)
The research of new biomarkers for Parkinson's disease is essential for accurate and precocious diagnosis, as well as for the discovery of new potential disease mechanisms and drug targets. The main objective of this work ...
Astrocytes in Alzheimer’s Disease: Pathological Significance and Molecular Pathways
(MDPI, 2021-03-04)
Astrocytes perform a wide variety of essential functions defining normal operation of the nervous system and are active contributors to the pathogenesis of neurodegenerative disorders such as Alzheimer’s among others. ...
RNA Localization and Local Translation in Glia in Neurological and Neurodegenerative Diseases: Lessons from Neurons
(MDPI, 2021-03-12)
Cell polarity is crucial for almost every cell in our body to establish distinct structural and functional domains. Polarized cells have an asymmetrical morphology and therefore their proteins need to be asymmetrically ...
Neuropathological Characterization of a Dravet Syndrome Knock-In Mouse Model Useful for Investigating Cannabinoid Treatments
(Frontiers Media, 2021-01-29)
Dravet syndrome (DS) is an epileptic syndrome caused by mutations in the Scn1a gene encoding the alpha 1 subunit of the sodium channel Nav1.1, which is associated with febrile seizures that progress to severe tonic-clonic ...
The Anti-Inflammatory Astrocyte Revealed: the Role of the Microbiome in Shaping Brain Defences
(Springer, 2021-04-10)
Astrocytes are a sub-type of neuroglia responsible for homoeostasis and defence of the nervous system. Pathological reactions of neuroglial cells in various neurological disorders have been identified and characterised in ...
Alzheimer's Risk Gene TREM2 Determines Functional Properties of New Type of Human iPSC-Derived Microglia
(Frontiers Media, 2021-02-03)
Microglia are key in the homeostatic well-being of the brain and microglial dysfunction has been implicated in neurodegenerative disorders such as Alzheimer's disease (AD). Due to the many limitations to study microglia ...
Essential Omega-3 Fatty Acids Tune Microglial Phagocytosis of Synaptic Elements in the Mouse Developing Brain
(Nature, 2020-11-30)
Omega-3 fatty acids (n-3 PUFAs) are essential for the functional maturation of the brain. Westernization of dietary habits in both developed and developing countries is accompanied by a progressive reduction in dietary ...