• Aims To assess mitochondrial biogenesis, MRC assembly and MRC function in R6/2 and human skeletal muscle. (bmj.com)
  • Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. (nih.gov)
  • Ribosome biogenesis factor Ltv1 chaperones the assembly of the small subunit head. (nih.gov)
  • The von Hippel-Lindau protein pVHL inhibits ribosome biogenesis and protein synthesis. (nih.gov)
  • We reveal a nucleolar Pol-II-dependent mechanism that drives ribosome biogenesis, identify disease-associated disruption of nucleoli by noncoding RNAs, and establish locus-targeted R-loop modulation. (nature.com)
  • Traditionally, the nucleolar Pol I and nucleoplasmic Pol III are viewed as the sole mammalian RNA polymerases that directly mediate housekeeping ribosome biogenesis. (nature.com)
  • It is unclear whether nucleolar Pol II exists in higher organisms or directly promotes ribosome biogenesis in any species. (nature.com)
  • Ribosome biogenesis is the process of making ribosomes. (wikipedia.org)
  • Ribosome biogenesis is a very tightly regulated process, and it is closely linked to other cellular activities like growth and division. (wikipedia.org)
  • Some have speculated that in the origin of life, ribosome biogenesis predates cells, and that genes and cells evolved to enhance the reproductive capacity of ribosomes. (wikipedia.org)
  • The yeast, S. cerevisiae is the eukaryotic model organism for the study of ribosome biogenesis. (wikipedia.org)
  • Ribosome biogenesis starts in the nucleolus. (wikipedia.org)
  • Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. (medlineplus.gov)
  • 18 DERs and DEDs were identified in the PTM vs. PM, 87 in the TM vs. PTM, and 87 in the TM vs. PM. Those DERs and DEDs participated in the regulation of gene expression at the levels of chromatin conformation, gene activation and silencing, splicing and degradation of mRNA, biogenesis of piRNA and miRNA, ribosome assemble, and translation of proteins. (peerj.com)
  • Both fundamentally different models explain why cells lack peroxisomal membrane structures in the absence of Pex3 or Pex19: in model A, PMPs are instable or mislocalized to the cytosol in pex3 or pex19 cells, whereas in model B, PMPs accumulate at the ER. (rug.nl)
  • Pex10, Pex11 and Pmp47, which require the Pex3/Pex19-machinery for sorting to these membranes (as in model A). These data imply that Pex13 and Pex14 insert into peroxisomal membranes without the assistance of Pex3 and Pex19. (rug.nl)
  • In peroxisomal biogenesis disorders, abnormal accumulation of VLCFAs (C24, C26) is the hallmark of peroxisomal disorders. (medscape.com)
  • An infantile form of Refsum disease also exists and is an autosomal recessive disorder of peroxisomal biogenesis, leading to many biochemical abnormalities, including elevated plasma concentration of phytanic acid, pristanic acid, very long chain fatty acids, and C27 bile acids. (medscape.com)
  • This defect of peroxisomal biogenesis is caused by PEX7 gene mutations and characterized by skeletal changes that include midface hypoplasia, strikingly short proximal limbs, frontal bossing, small nares, cataracts, ichthyosis, and profound psychomotor retardation. (msdmanuals.com)
  • The overall process of mitochondrial protein biogenesis consists of four stages: (1) protein synthesis, (2) targeting the protein to the mitochondria, (3) transporting the protein into the mitochondrial lumen, and (4) targeting the protein to its final destination in the organelle. (reasons.org)
  • Each stage of mitochondrial protein biogenesis involves multiple steps with each one carried out by an ensemble of proteins. (reasons.org)
  • If not, the entire process of mitochondrial protein biogenesis fails. (reasons.org)
  • Evidence indicates that Alix, an accessory protein of the endosomal sorting complex required for transport (ESCRT), is involved in the biogenesis of extracellular vesicles (EVs). (spandidos-publications.com)
  • Functional analysis of the dysregulated proteins indicated a significant enrichment of proteins associated with mitochondrial dynamics, cholesterol biogenesis, and protein clearance. (nih.gov)
  • The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. (xenbase.org)
  • In addition, the authors describe in great detail the recognition of host receptors by pili and the pilus biogenesis by chaperon-user pathways. (cdc.gov)
  • To address this, we use an integrated set of omics tools coupled with new informatics approaches to identify and characterize core metabolic pathways in model syntrophic communities when growing on unstudied or poorly studied classes of substrates ( i.e. , amino acids, carboxylates, and long chain fatty acids). (ucla.edu)
  • The overall goals of this program were to produce and distribute mutant models for infertility and to investigate underlying causes in order to identify new genes and pathways contributing to reproductive function. (jax.org)
  • One such class of pathways is involved in the biogenesis of Iron-Sulfur Clusters (ISC). (biomedcentral.com)
  • Iron-Sulfur Cluster biogenesis) or complex pathways with an unclear reaction and regulation network, (e. g. cell cycle). (biomedcentral.com)
  • The basic model prescribed that newly synthesized Pex3 first sorts to the ER, where it concentrates in foci followed by the formation of a nascent peroxisome that pinches off from the ER. (rug.nl)
  • Peroxisome biogenesis requires the function of peroxins, which are encoded by PEX genes. (rug.nl)
  • Pex19p interacts with Pex3p and Pex10p and is essential for peroxisome biogenesis in Pichia pastoris . (rug.nl)
  • Refsum disease can be classified as a peroxisome biogenesis disorder. (medscape.com)
  • [ 1 ] Infantile Refsum disease is a peroxisome biogenesis disorder. (medscape.com)
  • Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. (medscape.com)
  • The developmental gradient in monocot leaves has been exploited to uncover leaf developmental gene expression programs and chloroplast biogenesis processes. (biomedcentral.com)
  • Recently, a mouse model for Refsum disease ( Phyh knockout mouse by targeted disruption of the PHYH gene). (medscape.com)
  • Predicted to be involved in ribosomal small subunit biogenesis and ribosomal small subunit export from nucleus. (nih.gov)
  • Increased ribosomal biogenesis occurs during tissue hypertrophy, but whether ribosomal biogenesis is impaired during atrophy is not known. (nih.gov)
  • Decreased ribosomal content was accompanied by decreased expression of cMYC, a positive regulator of ribosomal biogenesis, as well as reduced expression and activity of β-catenin, a transcriptional activator of cMYC. (nih.gov)
  • Overexpressing β-catenin restored hyperammonemia-induced perturbations in signaling responses that regulate ribosomal biogenesis. (nih.gov)
  • Existing models suggest that RNA polymerases I and III (Pol I and Pol III) are the only enzymes that directly mediate the expression of the ribosomal RNA (rRNA) components of ribosomes. (nature.com)
  • Using both C. elegans and mammalian models, we have significant progress in understanding the signal transduction mechanism as well its biological roles. (umassmed.edu)
  • The human transcriptome, its regulation, biogenesis and function will be treated. (uu.se)
  • However, it is still enigmatic about the exact processes in which RBPs-encoding genes and the relevant genes participate in transcriptome level during the biogenesis of secondary tumor in the activity of hepatocellular carcinoma (HCC) cells. (peerj.com)
  • In the present study, a subcellular mechanism for autophagosomal membrane biogenesis was examined in detail during in vivo turtle spermiogenesis. (frontiersin.org)
  • This study is to explore the biogenesis mechanism of a secondary hepatocellular carcinoma (HCC) based on the function of RNA binding proteins (RBPs)-encoding genes in the physiological microenvironment (PM). (peerj.com)
  • The present study was designed to investigate in vivo subcellular evidence for the biogenesis of autophagosomal membrane during spermiogenesis using transmission-electron microscopy (TEM), Western blots and immunohistochemistry in samples from the Chinese soft-shelled turtle. (frontiersin.org)
  • It is unclear if and where distinct membrane sources fuse during autophagosome biogenesis. (frontiersin.org)
  • The non-apoptotic vesicles have been classified based on their biogenesis into exosomes derived from membranes of the endosomal compartment and microvesicles that are formed from the budding of a portion of the cell plasma membrane ( 5 , 6 ). (spandidos-publications.com)
  • Predictions regarding how proteins act in ISC biogenesis are validated by comparison with published experimental results. (biomedcentral.com)
  • The more than likely absence of known mechanistic and kinetic data for each of the individual proteins in a novel pathway hinders the process of translating network topology into a mathematical model. (biomedcentral.com)
  • As a test case, we reconstruct the topology of the reaction and regulatory network for the mitochondrial ISC biogenesis pathway in S. cerevisiae . (biomedcentral.com)
  • Using the Iron Sulfur cluster biogenesis in S. cerevisiae as a test case we indicate how this procedure can be used to analyze and validate the network model against experimental results. (biomedcentral.com)
  • 2021), Aquatic models of human ciliary diseases. (xenbase.org)
  • The procedure combines structural bioinformatics tools and mathematical modeling techniques that allow the reconstruction of biochemical networks. (biomedcentral.com)
  • Using coordinated molecular and bioinformatic approaches we examine metabolism of model microbial communities to better understand the processes that drive anaerobic carbon recycling in nature. (ucla.edu)
  • In this approach, mathematical models play a central role for the evaluation of the alternative network structures that arise from literature data-mining, phylogenetic profiling, structural methods, and human curation. (biomedcentral.com)
  • Thus, it is a challenge to transform the network of interactions inferred from the analysis of static data into a causal network that allows for the creation of mathematical models whose dynamic behavior can be analyzed and tested against experimental observations. (biomedcentral.com)
  • Such networks can then be translated into mathematical models whose dynamic behavior can be analyzed and compared to that of the real system, thus discriminating against some of the proposed topologies when they do not reproduce the expected behavior. (biomedcentral.com)
  • We use experimental and comparative methods, guided by mathematical modelling and conceptual analysis. (lu.se)
  • Mutagenesis-generated mouse models of human infertility with abnormal sperm. (jax.org)
  • Other models include the formation of two 3 or multiple 4 types of vesicles that form nascent peroxisomes after heterotypic fusion. (rug.nl)
  • Model B prescribes that PMPs first insert into the ER from which vesicles derive de novo in a Pex3/Pex19-dependent way, thus defining peroxisomes as a branch of the endomembrane system 1,2 . (rug.nl)
  • Although mammalian models provide vital insights into the underlying pathology of these diseases, aquatic organisms such as Xenopus and zebrafish provide valuable tools to help screen and dissect out the underlying causes of these diseases. (xenbase.org)
  • Dr Tamara Jamaspishvili is a research pathologist, translational research scientist focusing on developing, evaluating, validating, and applying tissue-based prognostic and predictive biomarkers and models for improved disease prognostication and management of cancer patients. (upstate.edu)
  • The Haynes Laboratory is interested in how cells and organisms adapt to mitochondrial dysfunction in a number of physiologic and pathologic scenarios including during aging, oocyte biogenesis, cancer cell growth, stem cell maintenance and bacterial infection. (umassmed.edu)
  • The abnormality of those functions in the organic microenvironments promoted the metastasis of HCC and initiated the biogenesis of a secondary HCC in a PM when the PM encountered the invasion of cancer cells. (peerj.com)
  • Information from these analyses will guide the creation of predictive models of disease risk. (cdc.gov)
  • Combining these data with information about avian migratory patterns, landscape characteristics, and weather conditions, over space and time, will provide the foundation for developing spatial analytical and forecasting models to assess the risk for human illness. (cdc.gov)
  • We assessed the effects of EQ on peripheral nerve function in the db/db mouse model of type II diabetes. (nature.com)
  • Two main models explain Pex3 and Pex19 function (Fig. 1). (rug.nl)
  • Such models advance our understanding of brain function and lead to new artificial intelligence systems. (forth.gr)
  • It is not dissimilar to the gradient of proliferation and differentiation along developing roots [ 2 ] but, in contrast, it provides a unique opportunity to study chloroplast biogenesis and differentiation. (biomedcentral.com)
  • Comparative genomics will illustrate the genetic evolution of man and the use of animal or other model organisms in understanding human diseases. (uu.se)
  • Here, we have investigated the proteome dynamics of central synapses in P14 Smn 2B/- mice, a model of SMA. (nih.gov)
  • It reveals functionally distinct plastid and chloroplast development stages, identifies processes occurring in each of them, and highlights our very limited knowledge of the earliest drivers of plastid biogenesis, while providing a basis for their future identification. (biomedcentral.com)
  • Many processes of syntrophic metabolism are not well understood, and this impacts the ability to predict and model their metabolism and roles in carbon recycling in nature. (ucla.edu)
  • The GTPases Rac and Cdc42 play a pivotal role in the establishment of cell polarity by stimulating biogenesis of tight junctions (TJs). (rupress.org)
  • Here, we used the Df1 /+ mouse model of 22q11.2DS to investigate the relationship between hearing loss and susceptibility to schizophrenia-relevant brain and behavioral abnormalities. (biorxiv.org)
  • Tiam1 interacts with Par3 and aPKCζ, which are two components of the conserved Par3-Par6-aPKC polarity complex, and triggers biogenesis of the TJ through the activation of Rac and aPKCζ, which is independent of Cdc42. (rupress.org)
  • Our data indicate that Tiam1-mediated activation of Rac in PAs controls TJ biogenesis and polarity in epithelial cells by association with and activation of the Par3-Par6-aPKC polarity complex. (rupress.org)
  • At its inception stood the idea of a Virtual Earth , understood to be a 3D geometry model of the World, accessible through the Internet and supporting location-aware Internet-applications. (inria.fr)
  • Ethoxyquin (EQ), a quinolone-based antioxidant, has demonstrated neuroprotective properties against several neurotoxic drugs in a phenotypic screening and is shown to protect axons in animal models of chemotherapy-induced peripheral neuropathy. (nature.com)
  • Intermittent fasting (IF), the abstinence or strong limitation of calories for 12 to 48 h, alternated with periods of regular food intake, has shown promising results on neurobiological health in animal models. (mdpi.com)
  • In previous studies in an ARPKD animal model, we showed that T1 mapping is a sensitive measure of progressive CHF. (pkdcure.org)
  • 11 (5 with animal and 6 with human models) were eligible. (bvsalud.org)
  • Critical evaluation of the obtained results through this procedure allows devising new wet lab experiments to confirm its predictions or provide alternative explanations for further improving the models. (biomedcentral.com)
  • Because they do not accumulate at the ER in pex3 cells, also model B is challenged. (rug.nl)
  • In the Df1 /+ mouse model of human 22q11.2 Deletion Syndrome, we find that hearing loss shapes measures that are considered schizophrenia-relevant endophenotypes, such as central auditory gain and auditory sensorimotor gating. (biorxiv.org)
  • We show here that the biogenesis of CLEL6 and CLEL9 peptides in Arabidopsis thaliana requires a series of processing events in consecutive compartments of the secretory pathway. (elifesciences.org)
  • This book is enjoyable to read, is extensively referenced, and has 52 superb structural models in full color, based in part on x-ray crystallography. (cdc.gov)