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Increased Calcium-Sensing Receptor Immunoreactivity in the Hippocampus of a Triple Transgenic Mouse Model of Alzheimer's Disease
(Frontiers Media, 2017-02-16)
The Calcium-Sensing Receptor (CaSR) is a G-protein coupled, 7-transmembrane domain receptor ubiquitously expressed throughout the body, brain including. The role of CaSR in the CNS is not well understood; its expression ...
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
(Nature Publishing, 2018-09-18)
Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described. ...
FRZB gene expression regulation in vitro to restore muscle fibre homeostasis in limb-girdle muscular dystrophy type 2A (LGMD2A) and Frzb-/- murine model muscle analysis.
(2018-09-26)
Este trabajo se centra en el estudio de la distrofia muscular de cinturas tipo 2A (LGMD2A) causada por mutaciones en el gen de la calpaina 3. El trabajo ha sido enfocado en el estudio a nivel celular y molecular de esta ...
Pronóstico y calidad de vida tras craniectomía descompresiva
(2017-07-27)
La hipertensión intracraneal es una de las complicaciones más graves de las lesiones cerebrales agudas, que puede comprometer seriamente la evolución de pacientes con traumatismos craneoencefálicos, lesiones ocupantes de ...
Acetylome in Human Fibroblasts From Parkinson's Disease Patients
(Frontiers Media SA, 2018-04-17)
Parkinson's disease (PD) is amultifactorial neurodegenerative disorder. The pathogenesis of this disease is associated with gene and environmental factors. Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most ...
Delivery of microRNAs as a remyelination strategy in multiple sclerosis.
(2019-01-18)
La esclerosis múltiple es una enfermedad del sistema nervioso central para la cual no existen fármacos que promuevan la remielinización. Por ello, la comunidad científica está realizando un gran esfuerzo por desarrollar ...
Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation
(Biomed Central, 2019-01-23)
Background: Mutations in LRRK2 are a common genetic cause of Parkinson's disease (PD). LRRK2 interacts with and phosphorylates a subset of Rab proteins including Rab8a, a protein which has been implicated in various ...
Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons
(Biomed Central, 2016-11-18)
Background: Mutations in leucine-rich repeat kinase 2 (LRRK2) contribute to both familial and idiopathic forms of Parkinson's disease (PD). Neuroinflammation is a key event in neurodegeneration and aging, and there is ...
Role of amyloid B oligomers in oligodendrocyte and myelin pathology in Alzheimers's disease
(2018-01-18)
La enfermedad de Alzheimer (EA) es un desorden neurodegenerativo caracterizado por la presencia de placas seniles compuestas por agregados del péptido beta amiloide (Aß), siendo las formas solubles las que mejor correlacionan ...
How aging, seizures and ATP change the intrinsic properties of adult hippocampal neural stem cells.
(2018-12-14)
El hipocampo del cerebro de la mayoría de los mamíferos, incluyendo humanos, es capaz de generar nuevas neuronas a partir de de células madre neurales (NSCs) lo largo de la vida adulta mediante un proceso llamado neurogénesis ...