A5074408402- Genetics and Neurodevelopmental Disorders
- Reproductive Biology and Fertility
- Epigenetics and DNA Methylation
- Ovarian function and disorders
- Adipose Tissue and Metabolism
- Autophagy in Disease and Therapy
- Endoplasmic Reticulum Stress and Disease
- Regulation of Appetite and Obesity
- Nerve injury and regeneration
- Renal and related cancers
- Diet and metabolism studies
- Ubiquitin and proteasome pathways
- Renal Diseases and Glomerulopathies
- Sperm and Testicular Function
- RNA modifications and cancer
- Chronic Kidney Disease and Diabetes
- Birth, Development, and Health
- Reproductive System and Pregnancy
- Pancreatic function and diabetes
- Adenosine and Purinergic Signaling
- Autism Spectrum Disorder Research
- Cellular transport and secretion
- Neurogenesis and neuroplasticity mechanisms
- Genetics, Aging, and Longevity in Model Organisms
- Pluripotent Stem Cells Research
San Sebastián University
2019-2025
Centro de Estudios Científicos
2010-2024
Austral University of Chile
2019
Oregon National Primate Research Center
2005-2014
Oregon Health & Science University
2006-2014
Imperial College Healthcare NHS Trust
2005
Pontificia Universidad Católica de Chile
2000
Contextual memory formation relies on the induction of new genes in hippocampus. A polymorphism promoter transcription factor XBP1 was identified as a risk for Alzheimer's disease and bipolar disorders. is major regulator unfolded protein response (UPR), mediating adaptation to endoplasmic reticulum (ER) stress. Using phenotypic screen, we uncovered an unexpected function cognition behavior. Mice lacking nervous system showed specific impairment contextual long-term potentiation (LTP),...
Abstract Although protein-folding stress at the endoplasmic reticulum (ER) is emerging as a driver of neuronal dysfunction in models spinal cord injury and neurodegeneration, contribution this pathway to peripheral nerve damage remains poorly explored. Here we targeted unfolded protein response (UPR), an adaptive reaction against ER stress, mouse sciatic found that ablation transcription factor XBP1, but not ATF4, significantly delay locomotor recovery. XBP1 deficiency led decreased...
Neurotrophins (NTs), once believed to be neural-specific trophic factors, are now known also provide developmental cues non-neural cells. In the ovary, NTs contribute both formation and development of follicles. Here we show that oocyte-specific deletion Ntrk2 gene encodes NTRK2 receptor (NTRK2) for neurotrophin-4/5 brain-derived neurotrophic factor (BDNF) results in post-pubertal oocyte death, loss follicular organization, early adulthood infertility. Oocytes lacking do not respond...
Abstract We have previously demonstrated that the CAD catecholaminergic neuronal cell line is an appropriate model system to study regulation of D 1 dopamine receptor expression. In this report, we show brain‐derived neurotrophic factor (BDNF) up‐regulates expression in cells. addition, by comparing mRNA wild‐type, heterozygous and homozygous trkB knockout mice, TrkB signaling vivo . cells expressing receptor, BDNF increased a time‐ dose‐dependent manner with fourfold increase observed as...
Recent studies have demonstrated that neurotrophins (NTs) and their NTRK tyrosine kinase receptors, thought to be exclusively required for the development of nervous system, are also involved in controlling ovarian development. Here, we show primordial follicle formation is decreased absence nerve growth factor (NGF) or its receptor NTRK1, NTRK2, neurotrophin-4 (NTF4) brain-derived neurotrophic (BDNF). This deficiency not due premature oocyte loss, because ovaries Ntrk1(-/-) Ntrk2(-/-) mice...
ERp57 (also known as grp58 and PDIA3) is a protein disulfide isomerase that catalyzes bonds formation of glycoproteins part the calnexin calreticulin cycle. markedly upregulated in most common neurodegenerative diseases downstream endoplasmic reticulum (ER) stress response. Despite accumulating correlative evidence supporting neuroprotective role ERp57, contribution this foldase to physiology nervous system remains unknown. Here we developed transgenic mouse model overexpresses under control...
Previous studies showed that nerve growth factor (NGF) induces the expression of functional FSH receptors (FSHR) in preantral follicles developing rat ovary.The objective this study was to determine whether NGF can affect granulosa cell (GC) function human periovulatory using intact ovaries and isolated GCs.Human GCs were obtained from vitro fertilization patients normal women with elective pelvic surgery for nonovarian indications.In ovaries, trkA (NGF's high-affinity receptor) detected by...
MeCP2 is an abundant protein that binds to methylated cytosine residues in DNA and regulates transcription. Mutations MECP2 cause Rett syndrome, a severe neurological disorder affects approximately 1:10 000 females. Mice lacking have been generated constitute important models of syndrome. However, it yet unclear whether certain physiological events are sensitive decrease, rather than complete lack MeCP2. Here we report Mecp2 floxed allele (Mecp2lox) was allow conditional mutagenesis behaves...
Background Rett syndrome (RTT) is an X-linked postnatal neurodevelopmental disorder caused by mutations in the gene encoding methyl-CpG binding protein 2 (MeCP2) and one of leading causes mental retardation females. RTT characterized psychomotor retardation, purposeless hand movements, autistic-like behavior abnormal gait. We studied effects environmental enrichment (EE) on phenotypic manifestations a mouse model that lacks MeCP2 (Mecp2−/y). Principal Findings found EE delayed attenuated...
In the rat ovary, germ and somatic cells become organized into primordial follicles 48–72 h after birth. Although several genes have been implicated in control of early follicular growth, less is known about factors involved formation follicles. Using method differential display mRNAs, we found differentially expressed at time assembly. One them encodes synaptonemal complex protein-1 (SCP1), a core component protein that maintains recombining chromosomes together during prophase I first...
<b>Background:</b> Sotos syndrome (MIM 117550) is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions at 5q35.3, encompassing <i>NSD1</i>, are responsible for ∼10% of non-Japanese cases Sotos. In contrast, recurrent ∼2 Mb microdeletion has been reported as ∼50% Japanese <b>Methods:</b> We screened 471 <i>NSD1</i> mutations deletions identified 23 with 5q35 microdeletions. investigated the deletion size, parent origin, mechanism generation in...
A growing number of patients are recognized worldwide to have chronic kidney disease. Glomerular and interstitial fibrosis hallmarks renal progression. However, the remains an unresolved challenge, its molecular mechanisms still not fully understood. Gremlin is embryogenic gene that has been shown play a key role in nephrogenesis, expression generally low normal adult kidney. gremlin elevated many human diseases, including diabetic nephropathy, pauci-immune glomerulonephritis allograft...
ABSTRACT Nutritional, endocrine, and neurological signals converge in multiple brain centres to control feeding behaviour food intake as part of the allostatic regulation energy balance. Among several neuroendocrine systems involved, leptin, glucocorticoid, glucagon‐like peptide 1 (GLP1) have been extensively researched. Leptin is at top hierarchical level since its complete absence sufficient trigger severe hyperphagia. Glucocorticoids are key regulators balance adaptation stress their...
Tropomyosin-related kinase (TRK) receptor B (TRKB) mediates the supportive actions of neurotrophin 4/5 and brain-derived neurotrophic factor on early ovarian follicle development. Absence TRKB receptors reduces granulosa cell (GC) proliferation delays growth. In present study, we offer mechanistic insights into this phenomenon. DNA array quantitative PCR analysis ovaries from TrkB-null mice revealed that by end first week postnatal life, Jagged1, Hes1, Hey2 mRNA abundance is reduced in...
Methyl CpG binding protein-2 (MECP2) is a chromatin-remodelling factor with dual role in gene expression. Evidence from patients carrying MECP2 mutations and transgenic mouse models demonstrates that this protein involved the control of body weight. However, mechanism for has not been fully elucidated. To address this, we used previously characterized Mecp2-null model found increase weight associated an increased amount adipose tissue high leptin levels. Appropriate requires proper...
Ubiquitination regulates several biological processes, however the role of specific members ubiquitinome on intracellular membrane trafficking is not yet fully understood. Here, we search for ubiquitin-related genes implicated in protein performing a High-Content siRNA Screening including 1187 human “ubiquitinome” using amyloid precursor (APP) as reporter. We identified deubiquitinating enzyme PSMD14, subunit 19S regulatory particle proteasome, K63-Ub chains cells, novel regulator...