Search
Now showing items 1-10 of 155
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 ...
Longitudinal evaluation of neuroinflammation and oxidative stress in a mouse model of Alzheimer disease using positron emission tomography
(BMC, 2022)
[EN] Background: Validation of new biomarkers of Alzheimer disease (AD) is crucial for the successful development and implementation of treatment strategies. Additional to traditional AT(N) biomarkers, neuroinflammation ...
Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement
(Cell Press, 2022-06-17)
Mutations in LRRK2 increase its kinase activity and cause Parkinson's disease. LRRK2 phosphorylates a subset of Rab proteins which allows for their binding to RILPL1. The phospho-Rab/RILPL1 interaction causes deficits in ...
Targeting Myotonic Dystrophy Type 1 with Metformin
(MDPI, 2022-03)
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder of genetic origin. Progressive muscular weakness, atrophy and myotonia are its most prominent neuromuscular features, while additional clinical manifestations in ...
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 ...