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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 ...
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 ...
Dermic-derived fibroblasts for the study of amyotrophic lateral sclerosis
(Wolters Kluwer - Medknow, 2020-11)
Percepciones y vivencias de escolares de 7 a 8 años del País Vasco durante la alerta sanitaria COVID-19
(2020-01)
Objective: To explore the experiences of schoolchildren in an exceptional health alert situation in which strict confinement measures have been applied to the population.Method: Qualitative exploratory study through the ...
Variations of telencephalic development that paved the way for neocortical evolution
(Elsevier, 2020-11)
Charles Darwin stated, "community in embryonic structure reveals community of descent". Thus, to understand how the neocortex emerged during mammalian evolution we need to understand the evolution of the development of the ...
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases
(Wiley, 2020-01)
Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were performed using patient's DNA sample. RT-PCR and ...
Alterations of the Hippocampal Neurogenic Niche in a Mouse Model of Dravet Syndrome
(Frontiers Media, 2020-07-21)
Hippocampal neurogenesis, the process by which neural stem cells (NSCs) continuously generate new neurons in the dentate gyrus (DG) of most mammals including humans, is chiefly regulated by neuronal activity. Thus, severe ...