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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. ...
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. ...
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 ...