A5037096598- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Heat shock proteins research
- Metabolomics and Mass Spectrometry Studies
- Genetics, Aging, and Longevity in Model Organisms
- Chromosomal and Genetic Variations
- Autism Spectrum Disorder Research
- Genomics and Phylogenetic Studies
- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- Endoplasmic Reticulum Stress and Disease
- Glycosylation and Glycoproteins Research
- Invertebrate Immune Response Mechanisms
- Marine Biology and Environmental Chemistry
- Genetic diversity and population structure
- Cellular Mechanics and Interactions
- DNA and Biological Computing
- Molecular Communication and Nanonetworks
- Immunodeficiency and Autoimmune Disorders
- Marine and coastal ecosystems
- Amphibian and Reptile Biology
- Genetics and Neurodevelopmental Disorders
- T-cell and B-cell Immunology
- Quantum Computing Algorithms and Architecture
- Marine and fisheries research
Children's Hospital of Philadelphia
2011-2018
University of Pennsylvania
2012-2018
Center for Systems Biology
2018
University of California, Irvine
2009-2012
Philadelphia University
2012
Pennsylvania State University
2005-2009
Aristotle University of Thessaloniki
2004
University of Crete
2003
Abstract The Mitomap database of human mitochondrial DNA (mtDNA) information has been an important compilation mtDNA variation for researchers, clinicians, and genetic counselors the past 25 years. protocol shows how users may look up gene loci, search public sequences, browse or reported general population nucleotide variants as well those in clinical disease. Within is powerful sequence analysis tool DNA, Mitomaster. Mitomaster gives step‐by‐step instructions showing to submit sequences...
The distinction between mild pathogenic mtDNA mutations and population polymorphisms can be ambiguous because both are homoplasmic, alter conserved functions, correlate with disease. One possible explanation for this ambiguity is that the same variant may have different consequences in contexts. NADH dehydrogenase subunit 1 (ND1) nucleotide 3394 T > C (Y30H) such a case. This has been associated Leber hereditary optic neuropathy it reduces complex I activity cellular respiration 7% 28% on...
<h3>Importance</h3> Autism spectrum disorders (ASD) are characterized by impairments in social interaction, communication, and repetitive or restrictive behavior. Although multiple physiologic biochemical studies have reported defects mitochondrial oxidative phosphorylation patients with ASD, the role of DNA (mtDNA) variation has remained relatively unexplored. <h3>Objective</h3> To assess what impact lineages encompassing ancient mtDNA functional polymorphisms, termed haplogroups, on ASD...
In eukaryotes, the assembly and elongation of unbranched actin filaments is controlled by formins, which are long, multidomain proteins. These proteins important for dynamic cellular processes such as determination cell shape, division, interaction. Yet, no comprehensive study has been done about origins evolution this gene family. We therefore performed extensive phylogenetic motif analyses formin genes examining 597 prokaryotic 53 eukaryotic genomes. Additionally, we used three-dimensional...
Abstract A fundamental question in molecular evolution is how protein functional differentiation alters the ability of cells and organisms to cope with stress survive. To answer this we used two paralogous Hsp70s from mouse explored whether these highly similar cytosolic chaperones, which apart their temporal expression have been considered functionally interchangeable, are differentiated respect lipid-binding function. We demonstrate that proteins bind diverse lipids different affinities...
Abstract Several evolutionary mechanisms alter the fate of mutations and genes within populations based on their exhibited functional effects. To understand underlying involved in evolution cellular stress response, a very conserved mechanism course organismal evolution, we studied patterns natural genetic variation consequences polymorphisms two stress-inducible Hsp70 genes. These genes, HSPA1A HSPA1B , are major orchestrators response associated with several human diseases. Our...
In mammals, the cell surface receptors encoded by leukocyte receptor complex (LRC) regulate activity of T lymphocytes and B lymphocytes, as well that natural killer cells, thus provide protection against pathogens parasites. The chicken genome encodes many Ig-like are homologous to LRC receptors. (CHIR) genes members a large monophyletic gene family organized into genomic clusters, which in conserved synteny with mammalian LRC. One-third CHIR encode polypeptide molecules contain both...
Developmental proteins play a pivotal role in the origin of animal complexity and diversity. We report here identification highly divergent developmental protein superfamily (DANGER), which originated before emergence animals (∼850 million years ago) experienced major expansion-contraction events during metazoan evolution. Sequence analysis demonstrates that DANGER diverged via multiple mechanisms, including amino acid substitution, intron gain and/or loss, recombination. Divergence for is...
In recent years, there has been tremendous progress in the development of quantum computing hardware, algorithms and services leading to expectation that near future computers will be capable performing simulations for natural science applications, operations research, machine learning at scales mostly inaccessible classical computers. Whereas impact already started recognized fields such as cryptanalysis, simulations, optimization among others, very little is known about full potential...
One of the major challenges in genomic era is annotating structure/function to vast quantities sequence information now available. Indeed, most protein database lacks comprehensive annotation, even when experimental evidence exists. Further, within structurally resolved and functionally annotated domains, additional functionalities contained these domains are not apparent. To add further complication, small changes amino-acid can lead profound both structure function, underscoring need for...
Water column sampling for nutrients, chlorophyll- a and bacteria was carried out at different time-scales covering 12 hours one month; ten replicated samples were taken estimating the stochastic variability. Two stations established on north coast of Crete (eastern Mediterranean), in Heraklion harbour second an exposed coastal area. All variables measured significantly higher port. Only showed increasing coefficient variation with time scale both sites, whereas other patterns between two sites.
We are testing the hypothesis that a significant proportion of risk for developing Autism Spectrum Disorder (ASD) is result inheriting partial defects in genes mitochondrial bioenergetics. To test our hypothesis, first we determined if ancient human mtDNA variation associated with ASD risk. accomplish this, used two independently generated and genotyped cohorts, Genetic Resource Exchange (AGRE) CHOP Case‐Control (ACC). These pre‐existing SNP data were by Illumina chip analysis. deduced...