Valérie Gailus‐Durner
A5062258378- Adipose Tissue and Metabolism
- RNA Research and Splicing
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Congenital heart defects research
- Epigenetics and DNA Methylation
- Regulation of Appetite and Obesity
- Asthma and respiratory diseases
- Genetics, Aging, and Longevity in Model Organisms
- Retinal Development and Disorders
- Thyroid Disorders and Treatments
- Receptor Mechanisms and Signaling
- Genomics and Chromatin Dynamics
- Bioinformatics and Genomic Networks
- Cardiomyopathy and Myosin Studies
- RNA and protein synthesis mechanisms
- Single-cell and spatial transcriptomics
- ATP Synthase and ATPases Research
- Liver Disease Diagnosis and Treatment
- Cellular transport and secretion
- Genomics and Rare Diseases
- Ion channel regulation and function
- Stress Responses and Cortisol
Helmholtz Zentrum München
2016-2025
Heinrich Heine University Düsseldorf
2013-2024
Deutsches Diabetes-Zentrum e.V.
2013-2024
German Center for Diabetes Research
2013-2024
Center for Environmental Health
2005-2023
München Klinik
2021
Technical University of Munich
2009-2018
German Center for Neurodegenerative Diseases
2017
Munich Cluster for Systems Neurology
2017
Else Kröner-Fresenius-Stiftung
2017
Abstract Mutations in the cytosine‐5 RNA methyltransferase NSun2 cause microcephaly and other neurological abnormalities mice human. How post‐transcriptional methylation contributes to human disease is currently unknown. By comparing gene expression data with global methylomes patient fibroblasts NSun2‐deficient mice, we find that loss of increases angiogenin‐mediated endonucleolytic cleavage transfer RNAs ( tRNA ) leading an accumulation 5′ ‐derived small fragments. Accumulation fragments...
The mouse inbred line C57BL/6J is widely used in genetics and its genome has been incorporated into many genetic reference populations. More recently large initiatives such as the International Knockout Mouse Consortium (IKMC) are using C57BL/6N strain to generate null alleles for all genes. Hence both strains now studies. Here we perform a comprehensive genomic phenotypic analysis of two identify differences that may influence their underlying mechanisms.We undertake sequence comparisons...
Aging is a major risk factor for large number of disorders and functional impairments. Therapeutic targeting the aging process may therefore represent an innovative strategy in quest novel broadly effective treatments against age-related diseases. The recent report lifespan extension mice treated with FDA-approved mTOR inhibitor rapamycin represented first demonstration pharmacological maximal mammals. Longevity effects may, however, be due to rapamycin’s on specific life-limiting...
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...
The hormone calcitonin (CT) is primarily known for its pharmacologic action as an inhibitor of bone resorption, yet CT-deficient mice display increased formation. These findings raised the question about underlying cellular and molecular mechanism CT action. Here we show that either ubiquitous or osteoclast-specific inactivation murine receptor (CTR) causes negatively regulates osteoclast expression Spns2 gene, which encodes a transporter signalling lipid sphingosine 1-phosphate (S1P)....
Multiple reports implicated the function of G protein-coupled receptor (GPR)-30 with nongenomic effects estrogen, suggesting that GPR30 might be a G-protein coupled estrogen receptor. However, findings are controversial and expression pattern on cell type level as well its in vivo remains unclear. Therefore, objective this study was to identify types express Gpr30 by analyzing mutant mouse model harbors lacZ reporter (Gpr30-lacZ) locus leading partial deletion coding sequence. Using...
Thyroid hormone transport into cells requires plasma membrane proteins. Mutations in one of these, monocarboxylate transporter 8 (MCT8), have been identified as underlying cause for the Allan–Herndon–Dudley syndrome, an X-linked mental retardation which patients also present with abnormally high 3′,3,5-triiodothyronine (T 3 ) levels. Mice deficient Mct8 replicate thyroid abnormalities observed human condition. However, no neurological deficits described mice lacking . Therefore, we subjected...
Significance Aging-associated diseases are increasingly common in an aging global population. However, the contributors and origins of differential risk for unhealthy remain poorly understood. Using a mouse model, we found that offspring aged fathers exhibited reduced life span more pronounced aging-associated pathologies than animals sired by young fathers. Tissue revealed shared epigenetic signatures showed altered activation states longevity-related cell signaling. Our results suggest...
Covalent chemical modifications of cellular RNAs directly impact all biological processes. However, our mechanistic understanding the enzymes catalyzing these modifications, their substrates and functions, remains vague. Amongst RNA N 6 -methyladenosine (m A) is widespread found in messenger (mRNA), ribosomal (rRNA), noncoding RNAs. Here, we undertook a systematic screen to uncover new methyltransferases. We demonstrate that methyltransferase-like 5 (METTL5) protein catalyzes m A 18S rRNA at...
The majority of amyotrophic lateral sclerosis (ALS) cases as well many patients suffering from frontotemporal lobar dementia (FTLD) with ubiquitinated inclusion bodies show TDP-43 pathology, the protein encoded by TAR DNA-binding (Tardbp) gene. We used recombinase-mediated cassette exchange to introduce an ALS patient cDNA into mouse Tdp-43 locus. Expression levels human A315T were 300% elevated in heterozygotes, whereas endogenous was decreased 20% wild type a result disturbed feedback...
Translation of the expanded (ggggcc)n repeat in C9orf72 patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) causes abundant poly-GA inclusions. To elucidate their role pathogenesis, we generated transgenic mice expressing codon-modified (GA)149 conjugated cyan fluorescent protein (CFP). Transgenic progressively developed inclusions predominantly motoneurons interneurons spinal cord brain stem deep cerebellar nuclei. Poly-GA co-aggregated p62, Rad23b newly...
Thyroid hormone (TH) and TH receptors (TRs) α β act by binding to response elements (TREs) in regulatory regions of target genes. This nuclear signaling is established as the canonical or type 1 pathway for action. Nevertheless, TRs also rapidly activate intracellular second-messenger pathways independently gene expression (noncanonical 3 TR signaling). To test physiological relevance noncanonical signaling, we generated knockin mice with a mutation DNA-binding domain that abrogates DNA...
Genome-wide association studies (GWAS) identified the MEIS1 locus for Restless Legs Syndrome (RLS), but causal single nucleotide polymorphisms (SNPs) and their functional relevance remain unknown. This contains a large number of highly conserved noncoding regions (HCNRs) potentially functioning as cis -regulatory modules. We analyzed these HCNRs allele-dependent enhancer activity in zebrafish mice found that risk allele lead SNP rs12469063 reduces Meis1 expression domain murine embryonic...
Article7 August 2018Open Access Source DataTransparent process RNA editing of Filamin A pre-mRNA regulates vascular contraction and diastolic blood pressure Mamta Jain Corresponding Author [email protected] Division Cell Biology, Center for Anatomy Medical University Vienna, Austria Search more papers by this author Tomer D Mann The Mina Everard Goodman Faculty Life Sciences, Bar Ilan University, Ramat-Gan, Israel Tel Aviv Sourasky Center, Aviv, Maja Stulić Shailaja P Rao Molecular Medicine,...
Dietary restriction regimes extend lifespan in various animal models. Here we show that longevity male C57BL/6J mice subjected to every-other-day feeding is associated with a delayed onset of neoplastic disease naturally limits these animals. We compare more than 200 phenotypes over 20 tissues aged animals fed lifelong or ad libitum access food diet determine whether molecular, cellular, physiological and histopathological aging features develop slowly controls. also analyze the effects on...
The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge. Here, we integrate measures how essential gene is to supporting life, as inferred from viability and phenotyping screens performed on knockout mice the International Mouse Phenotyping Consortium essentiality carried out human cell lines. We propose cross-species classification across Full Spectrum Intolerance Loss-of-function (FUSIL)...
RNA methyltransferase METTL6 is implicated in tumor cell growth and mouse energy consumption.