A5032329666- Tryptophan and brain disorders
- Genetic Neurodegenerative Diseases
- Alzheimer's disease research and treatments
- Neuroscience and Neuropharmacology Research
- Stress Responses and Cortisol
- Genetic Associations and Epidemiology
- Nerve injury and regeneration
- Bipolar Disorder and Treatment
- Parkinson's Disease Mechanisms and Treatments
- Neurogenesis and neuroplasticity mechanisms
- Genetics and Neurodevelopmental Disorders
- Treatment of Major Depression
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Receptor Mechanisms and Signaling
- Neurotransmitter Receptor Influence on Behavior
- Autism Spectrum Disorder Research
- Schizophrenia research and treatment
- RNA Research and Splicing
- Electroconvulsive Therapy Studies
- Genomics and Rare Diseases
- Obsessive-Compulsive Spectrum Disorders
- RNA regulation and disease
- Congenital heart defects research
- Dementia and Cognitive Impairment Research
Centro San Giovanni di Dio Fatebenefratelli
2016-2025
University of Brescia
2016-2025
Brescia University
2004-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2013-2024
Amrita Institute of Medical Sciences and Research Centre
2020
University of Verona
2015
Ospedale di Bolzano
2015
Pediatrics and Genetics
2014
Fatebenefratelli Hospital
2006-2011
Ospedale San Raffaele Arcangelo
2011
We report a genome-wide assessment of single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) in schizophrenia. investigated SNPs using 871 patients 863 controls, following up the top hits four independent cohorts comprising 1,460 12,995 all European origin. found no significant associations, nor could we provide support for any previously reported candidate gene or associations. went on to examine CNVs subset 1,013 cases 1,084 controls ancestry, further set 60 64 African...
To improve the 'personalized-medicine' approach to treatment of depression, we need identify biomarkers that, assessed before starting treatment, predict future response antidepressants ('predictors'), as well that are targeted by and change longitudinally during ('targets'). In this study, tested leukocyte mRNA expression levels genes belonging glucocorticoid receptor (GR) function (FKBP-4, FKBP-5, GR), inflammation (interleukin (IL)-1α, IL-1β, IL-4, IL-6, IL-7, IL-8, IL-10, macrophage...
Stress and glucocorticoid hormones regulate hippocampal neurogenesis, but the molecular mechanisms mediating these effects are poorly understood. Here we identify receptor (GR) target gene, serum- glucocorticoid-inducible kinase 1 (SGK1), as one such mechanism. Using a human progenitor cell line, found that small molecule inhibitor for SGK1, GSK650394, counteracted cortisol-induced reduction in neurogenesis. Moreover, gene expression pathway analysis showed inhibition of neurogenic Hedgehog...
Stress and glucocorticoid hormones regulate hippocampal neurogenesis, but the molecular mechanisms underlying their effects are unknown. We, therefore, investigated signaling pathways mediating of cortisol on proliferation, neuronal differentiation, astrogliogenesis, in an immortalized human progenitor cell line. In addition, we examined activated hippocampus prenatally stressed rats, characterized by persistently elevated levels adulthood. cells, found that low concentrations (100 nM)...
It has been recently demonstrated that the 43-kDa transactive response (TAR)-DNA-binding protein (TARDBP) is neuropathological hallmark of Frontotemporal Dementia (FTD) with ubiquitin-positive and tau-negative inclusions. Large series FTD patients without motor neuron disease have previously analysed, but no TARDBP mutation was identified. The aim present study to evaluate whether gene mutations may be associated FTD. We report a pathogenetic causative behavioural variant (bvFTD). An aged...
Myotonic dystrophy (DM; OMIM 160900, also known as dystrophia myotonica, myotonia atrophica and Steinert disease) is an autosomal dominant myotonic myopathy associated with abnormalities of other organs, including eyes, heart, endocrine system, central peripheral nervous systems, gastrointestinal bone, skin.1 The mutation underlying DM expansion unstable cytosine-thymine-guanine (CTG) trinucleotide repeat in the 3' untranslated region protein kinase (DMPK) gene chromosome 19q13.3.2-4 In...
Consistent evidence indicates the involvement of brain-derived neurotrophic factor (BDNF) in neurodegenerative disorders such as Alzheimer's disease (AD) and Parkinson’s (PD). In present study, we compared serum BDNF 624 subjects: 266 patients affected by AD, 28 frontotemporal dementia (FTD), 40 Lewy body (LBD), 91 vascular (VAD), 30 PD, 169 controls. Our results evidenced lower levels FTD, LBD, VAD (<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"...
The antiparkinsonian ropinirole and pramipexole are D3 receptor- (D3R-) preferring dopaminergic (DA) agonists used as adjunctive therapeutics for the treatment resistant depression (TRD). While exact antidepressant mechanism of action remains uncertain, a role D3R in restoration impaired neuroplasticity occurring TRD has been proposed. Since highly expressed on DA neurons humans, we studied effect structural plasticity using translational model human-inducible pluripotent stem cells...
Background: Stressful events increase the risk for treatment-resistant depression (TRD), and trauma-focused psychotherapy can be useful TRD patients exposed to early life stress (ELS). Epigenetic processes are known related ELS, but there is no evidence of effects on methylation alterations.
The trinucleotide expansion mutation causing myotonic dystrophy is in the 3' untranslated region of a protein kinase gene. molecular mechanisms by which expanded repeat causes clinically variable and multisystemic disease, dystrophy, are not understood. It has been particularly difficult to rationalize dominant inheritance with fact that lies outside protein-encoding gene elements, should be translated into protein. Here we use muscle biopsies from classical adult-onset patients study...