A5035345621- Nuclear Structure and Function
- RNA Research and Splicing
- Blood disorders and treatments
- Immunodeficiency and Autoimmune Disorders
- RNA and protein synthesis mechanisms
- Lipid metabolism and biosynthesis
- RNA regulation and disease
- PARP inhibition in cancer therapy
- Urban Stormwater Management Solutions
- Mitochondrial Function and Pathology
- Adipose Tissue and Metabolism
- Heavy Metal Exposure and Toxicity
- Heavy metals in environment
- Urban Agriculture and Sustainability
- Muscle Physiology and Disorders
- Urban Green Space and Health
- Olfactory and Sensory Function Studies
- Land Use and Ecosystem Services
- Regulation of Appetite and Obesity
- Endoplasmic Reticulum Stress and Disease
- Peroxisome Proliferator-Activated Receptors
- Biochemical Analysis and Sensing Techniques
Consejo Nacional de Humanidades, Ciencias y Tecnologías
2022
Universidad Nacional Autónoma de México
2022
Universidade de Santiago de Compostela
2008-2020
Center for Research in Molecular Medicine and Chronic Diseases
2016-2020
Biomedical Research Institute
2013
<h3>Background</h3> Seipin/BSCL2 mutations can cause type 2 congenital generalised lipodystrophy (BSCL) or dominant motor neurone diseases. Type BSCL is frequently associated with some degree of intellectual impairment, but not to fatal neurodegeneration. In order unveil the aetiology and pathogenetic mechanisms a new neurodegenerative syndrome novel BSCL2 mutation, six children, four them showing features, were studied. <h3>Methods</h3> Mutational splicing analyses performed. The brain two...
<h3>Background:</h3> Type 2 familial partial lipodystrophy (FPLD2) is characterised by loss of fat in the limbs and buttocks results from mutations <i>LMNA</i> gene. <h3>Aim:</h3> To evaluate role several genes involved adipogenesis order to better understand underlying mechanisms regional subcutaneous adipose tissue (scAT) patients with FPLD2. <h3>Methods:</h3> In total, 7 FPLD2 10 healthy control participants were studied. A minimal model was used calculate insulin sensitivity (IS). scAT...
Lipodystrophies are a group of diseases mainly characterized by loss adipose tissue and frequently associated with insulin resistance, hypertriglyceridemia, hepatic steatosis. In uncommon lipodystrophies, these complications difficult to control conventional therapeutic approaches. This retrospective study addressed the effectiveness recombinant methionyl leptin (metreleptin) for improving glucose metabolism, lipid profile, steatosis in patients genetic lipodystrophic syndromes. We studied...
Summary Objectives Type 2 familial partial lipodystrophy (FPLD2) is a rare adipose tissue (AT) disease caused by mutations in LMNA, which lipomas appear occasionally. In this study, we aimed to histologically characterize FPLD2‐associated lipomatosis and study the expression of genes proteins involved cell cycle control, mitochondrial function, inflammation adipogenesis. Design patients One lipoma perilipoma fat from each four subjects with FPLD2 10 control were analysed optical microscopy....
Diabet. Med. 27, 1178–1187 (2010) Abstract Aims Beradinelli–Seip congenital generalized lipodystrophy is a rare autosomal recessive disorder characterized by near‐complete absence of adipose tissue, Herculean appearance, insulin resistance, hypoleptinaemia and diabetes mellitus. The aim this study was to investigate the in vitro effects pioglitazone on expression genes involved adipogenesis fibroblasts from patient with condition due seipin mutation. Methods Primary cultures skin were...
Seipin is a widely expressed protein but with highest levels found in the brain and testes. function not yet completely understood, therefore aim of this study was to evaluate expression BSCL2 transcripts central nervous system (CNS) humans investigate effect their overexpression on neuron model relationship oxidative stress protection, as well shed light pathogenic mechanisms Celia's Encephalopathy. We analyzed using real-time RT–PCR samples across regions subjects who underwent necropsy...
Type 1 and type 2 familial partial lipodystrophies (FPLD) are characterized by the loss or increase in subcutaneous fat certain body regions, as well metabolic disorders. Higher muscle volume mass have also been described. However, so far, possible bone involvement has not studied. The aim of this study was to evaluate mineral density (BMD) patients with FPLD.A total 143 women were selected distributed into three groups (17 FPLD2, 82 FPLD1 44 nonlipodystrophic obese female controls). A...
Abstract Background Lipodystrophy syndromes are a group of disorders characterized by loss adipose tissue once other situations nutritional deprivation or exacerbated catabolism have been ruled out. With the exception HIV-associated lipodystrophy, they very low prevalence, which together with their large phenotypic heterogeneity makes identification difficult, even for endocrinologists and pediatricians. This leads to significant delays in diagnosis misdiagnosis. Our has developed an...
PELD (Progressive Encephalopathy with or without Lipodystrophy Celia's Encephalopathy) is a fatal and rare neurodegenerative syndrome associated the BSCL2 mutation c.985C>T, that results in an aberrant transcript exon 7 (Celia seipin). The aim of this study was to evaluate both process cellular senescence effect unsaturated fatty acids on preadipocytes from homozygous c.985C>T patient. Also, role seipin isoform adipogenesis studied adipose-derived human mesenchymal stem cells.Cellular...
Green belts are an urban planning approach meant to address sprawl and enhance resilience. Many Latin American cities located in arid lands would benefit from the green belt; however, little is known about factors that determine belt implementation these regions. The purpose of this study fill gap by examining case Hermosillo, Mexico, a rapidly growing city desert environment with envisioned belt. A cross-disciplinary team worked officials NGOs implement portion identifying suitable soils...
Abstract Background: Lipodystrophy syndromes are a group of disorders characterized by loss adipose tissue once other situations nutritional deprivation or exacerbated catabolism have been ruled out. With the exception HIV-associated lipodystrophy, they very low prevalence, which together with their large phenotypic heterogeneity makes identification difficult, even for endocrinologists and pediatricians. This leads to significant delays in diagnosis misdiagnosis. Our has developed an...
Abstract Failures of urban stormwater runoff management can lead to flooding. Potentially toxic elements (PTEs) are commonly found in water and flood. Thus, the population receiving ecosystems be exposed chemical hazards. However, floodwater quality is usually overlooked. In rainy season, flooding a persistent problem city Hermosillo, Sonora, Mexico. present research deals with content PTEs floodwater, possible threats flood-affected population. Aluminum (Al), iron (Fe) zinc (Zn) showed...
Abstract Lipodystrophy syndromes are a group of disorders characterized by loss adipose tissue once other situations nutritional deprivation or exacerbated catabolism have been ruled out. With the exception HIV-associated lipodystrophy, they very low prevalence, which together with their large phenotypic heterogeneity makes identification difficult, even for endocrinologists and pediatricians. This leads to significant delays in diagnosis misdiagnosis. Objective: Our has developed an...
Abstract Background: Lipodystrophy syndromes are a group of disorders characterized by loss adipose tissue once other situations nutritional deprivation or exacerbated catabolism have been ruled out. With the exception HIV-associated lipodystrophy, they very low prevalence, which together with their large phenotypic heterogeneity makes identification difficult, even for endocrinologists and pediatricians. This leads to significant delays in diagnosis misdiagnosis. Our has developed an...