Raffaele Gerlini
A5054742998- Adipose Tissue and Metabolism
- RNA Research and Splicing
- RNA modifications and cancer
- Regulation of Appetite and Obesity
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Cancer-related molecular mechanisms research
- MicroRNA in disease regulation
- Adipokines, Inflammation, and Metabolic Diseases
- Genetics, Aging, and Longevity in Model Organisms
- Genetics and Neurodevelopmental Disorders
- Cancer-related Molecular Pathways
- Circadian rhythm and melatonin
- Microtubule and mitosis dynamics
- CRISPR and Genetic Engineering
- Peroxisome Proliferator-Activated Receptors
- Genomics and Chromatin Dynamics
- Pancreatic function and diabetes
- ATP Synthase and ATPases Research
- Birth, Development, and Health
- Dietary Effects on Health
- Congenital heart defects research
- Cancer-related gene regulation
Helmholtz Zentrum München
2018-2024
Deutsches Diabetes-Zentrum e.V.
2018-2023
German Center for Diabetes Research
2018-2023
Heinrich Heine University Düsseldorf
2018-2023
München Klinik
2021
University of Naples Federico II
2014-2019
Helmholtz Association of German Research Centres
2018
Institute for Experimental Endocrinology and Oncology
2015-2017
National Research Council
2015
Abstract Spermatozoa harbour a complex and environment-sensitive pool of small non-coding RNAs (sncRNAs) 1 , which influences offspring development adult phenotypes 1–7 . Whether spermatozoa in the epididymis are directly susceptible to environmental cues is not fully understood 8 Here we used two distinct paradigms preconception acute high-fat diet dissect epididymal versus testicular contributions sperm sncRNA health. We show that spermatozoa, but developing germ cells, sensitive...
RNA methyltransferase METTL6 is implicated in tumor cell growth and mouse energy consumption.
Clinical presentation of congenital heart disease is heterogeneous, making identification the disease-causing genes and their genetic pathways mechanisms action challenging. By using in vivo electrocardiography, transthoracic echocardiography microcomputed tomography imaging to screen 3,894 single-gene-null mouse lines for structural functional cardiac abnormalities, here we identify 705 with arrhythmia, myocardial hypertrophy and/or ventricular dilation. Among these genes, 486 have not been...
Abstract Current concepts regarding the biology of aging are primarily based on studies aimed at identifying factors regulating lifespan. However, lifespan as a sole proxy measure for can be limited value because it may restricted by specific pathologies. Here, we employ large-scale phenotyping to analyze hundreds markers in male C57BL/6J mice. For each phenotype, establish lifetime profiles determine when age-dependent change is first detectable relative young adult baseline. We examine key...
Rare diseases (RDs) are a challenge for medicine due to their heterogeneous clinical manifestations and low prevalence. There is lack of specific treatments only few hundred the approximately 7,000 RDs have an approved regime. Rapid technological development in genome sequencing enables mass identification potential candidates that mutated form could trigger but often not confirmed be causal. Knockout (KO) mouse models essential understand causality genes by allowing highly standardized...
High Mobility Group A1 (HMGA1) is an architectural chromatin protein whose overexpression a feature of malignant neoplasias with causal role in cancer initiation and progression. HMGA1 promotes tumor growth by several mechanisms, including increase cell proliferation survival, impairment DNA repair induction chromosome instability. Autophagy self-degradative process that, providing energy sources removing damaged organelles misfolded proteins, allows survival under stress conditions. On the...
Circadian rhythm is heritable, and paternal circadian disruption affects offspring health via stress hormones in the seminal fluid.
Abstract Sex steroids, such as estrogens and androgens, are important regulators of the humoral immune response. Studies in female mice have demonstrated that alteration circulating estrogen concentration regulates antibody-mediated immunity. As males normally little endogenous estrogen, we hypothesized high low androgens affect system enhance allergic inflammatory Here, studied transgenic male expressing human aromatase (AROM+). These animals a to androgen ratio (E/A), causing traits...
Mitochondrial DNA (mtDNA) maintenance disorders are caused by mutations in ubiquitously expressed nuclear genes and lead to syndromes with variable disease severity tissue-specific phenotypes. Loss of function the gene encoding mitochondrial genome exonuclease 1 (MGME1) result deletions depletion mtDNA leading adult-onset multisystem humans. To better understand vivo MGME1 associated pathophysiology, we characterized a Mgme1 mouse knockout model extensive phenotyping ageing animals. We show...
// Giovanna Maria Pierantoni 1, * , Andrea Conte Cinzia Rinaldo 2 Mara Tornincasa 1 Raffaele Gerlini Antonella Federico Davide Valente Enzo Medico 3 Alfredo Fusco Istituto di Endocrinologia ed Oncologia Sperimentale del CNR and Dipartimento Medicina Molecolare e Biotecnologie Mediche, Università Napoli "Federico II", 80131, Naples, Italy Biologia Patologie Molecolari c/o "Sapienza" Roma, 00185, Rome, Laboratorio Oncogenomica, per la ricerca sul cancro, 10060 Candiolo, Turin, These authors...
Abstract Homeodomain-interacting protein kinase 2 (HIPK2) is a multitalented coregulator of an increasing number transcription factors and cofactors involved in cell death proliferation several organs systems. As Hipk2 −/− mice show behavioral abnormalities consistent with cerebellar dysfunction, we investigated whether these neurological symptoms. To this aim, characterized the postnatal developmental expression profile brain cortex, hippocampus, striatum, cerebellum by real-time PCR,...
Cardiometabolic diseases, such as type 2 diabetes and cardiovascular disease, have a high public health burden. Understanding the genetically determined regulation of proteins that are dysregulated in disease can help to dissect complex biology underpinning them. Here, we perform protein quantitative trait locus (pQTL) analysis 248 serum relevant cardiometabolic processes 2893 individuals. Meta-analyzing whole-genome sequencing (WGS) data from two Greek cohorts, MANOLIS (n = 1356; 22.5× WGS)...
The alternative oxidase, AOX, provides a by-pass of the cytochrome segment mitochondrial respiratory chain when is unavailable. AOX absent from mammals, but Ciona intestinalis benign expressed in mice. Although non-protonmotive, so does not contribute directly to ATP production, it has been shown modify and some cases rescue phenotypes respiratory-chain disease models. Here we studied effect C. on mice engineered express disease-equivalent mutant Uqcrh, encoding hinge subunit complex III,...
Although debated, metabolic health characterizes 10-25% of obese individuals and reduces risk developing life-threatening co-morbidities. Adipose tissue is a recognized endocrine organ important for the maintenance whole-body health. Adipocyte transcriptional signatures healthy unhealthy obesity are largely unknown.
The High Mobility Group A1 proteins (HMGA1) are nonhistone chromatinic with a critical role in development and cancer. We have recently reported that HMGA1 able to increase the expression of spindle assembly checkpoint (SAC) genes, thus impairing SAC function causing chromosomal instability cancer cells. Moreover, we found significant correlation between genes human colon carcinomas. Here, report mouse embryonic fibroblasts null for Hmga1 gene show downregulation Bub1, Bub1b, Mad2l1 Ttk...
Suitable animal models are essential for translational research, especially in the case of complex, multifactorial conditions, such as obesity. The non-inbred mouse (Mus musculus) line Titan, also known DU6, is one world's longest selection experiments high body mass and was previously described a model metabolic healthy (benign) present study further characterizes geno- phenotypes this tests its suitability an interventional obesity model. In contrast to previous findings, our data suggest...
Abstract Obesity is a global health problem characterized by excessive fat accumulation, driven adipogenesis and lipid accumulation. Long non‐coding RNAs (lncRNAs) have recently been implicated in regulating adipose tissue function. Mouse lncRNA U90926 was previously identified as repressor of vitro 3T3‐L1 preadipocytes. Consequently, we hypothesized that, vivo, may repress adipogenesis, hence its deletion would increase weight gain adiposity. We tested the hypothesis applying ‐deficient...
Biofluids contain various circulating cell-free RNAs (ccfRNAs). The composition of these ccfRNAs varies among biofluids. They constitute tantalizing biomarker candidates for several pathologies and have been demonstrated to be mediators cellular communication. Little is known about their function in physiological developmental settings, most works are limited vitro studies. Here, we develop iTAG-RNA, a method the unbiased tagging RNA transcripts mice vivo. We use iTAG-RNA isolate hepatocytes...
Inherited disorders of mitochondrial metabolism, including isolated methylmalonic aciduria, present unique challenges to energetic homeostasis by disrupting energy-producing pathways. To better understand global responses energy shortage, we investigated a hemizygous mouse model methylmalonyl-CoA mutase (Mmut)-type aciduria. We found Mmut mutant mice have reduced appetite, expenditure and body mass compared with littermate controls, along relative reduction in lean but increase fat mass....