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iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology
(Humana Press, 2018-04)
Gerstmann-Straussler-Scheinker (GSS) syndrome is a fatal autosomal dominant neurodegenerative prionopathy clinically characterized by ataxia, spastic paraparesis, extrapyramidal signs and dementia. In some GSS familiar ...
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. ...
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 ...
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 ...
Perspective: Of Mice and Men - How Widespread Is Adult Neurogenesis?
(Frontiers Media, 2019-08-29)
These are exciting times for research on adult hippocampal neurogenesis (AHN). Debate and controversy regarding the existence of generation of new neurons in the adult, and even diseased human brain flourishes as articles ...
Identification of ncRNAs as Potential Therapeutic Targets in Multiple Sclerosis Through Differential ncRNA – mRNA Network Analysis
(Biomed Central, 2015-03-28)
Background: Several studies have revealed a potential role for both small nucleolar RNAs (snoRNAs) and microRNAs (miRNAs) in the physiopathology of relapsing-remitting multiple sclerosis (RRMS). This potential implication ...
Delayed Diagnosis of an Eating Disorder in a Male Patient With Superior Mesenteric Artery Syndrome: Results From a Case Study
(Frontiers Media, 2019-10-15)
Background: Eating disorders (EDs) are serious and life-threatening mental diseases characterized by abnormal or altered eating habits. The prevalence is variable, being influenced by diverse sociocultural factors. ...
Impacto de la estimulación subtalámica a largo plazo sobre la situación cognitiva de los pacientes con enfermedad de Parkinson avanzada
(Elsevier, 2019-06-13)
Objetivo
El objetivo es evaluar los efectos de la estimulación cerebral profunda del núcleo subtalámico bilateral (STN-DBS) sobre el estado cognitivo de los pacientes con enfermedad de Parkinson 5 años después de la ...