Mutant Proteins

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  Subject Areas on Research

  • A Chlamydia trachomatis strain with a chemically generated amino acid substitution (P370L) in the cthtrA gene shows reduced elementary body production. 
  • A chimeric kinesin-1 head/kinesin-5 tail motor switches between diffusive and processive motility. 
  • A monoclonal antibody IMab-1 specifically recognizes IDH1R132H, the most common glioma-derived mutation. 
  • ALS- and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy. 
  • ATM regulates a DNA damage response posttranscriptional RNA operon in lymphocytes. 
  • Abi-1 forms an epidermal growth factor-inducible complex with Cbl: role in receptor endocytosis. 
  • Altered telomeres in tumors with ATRX and DAXX mutations. 
  • An epidermal growth factor receptor variant III-targeted vaccine is safe and immunogenic in patients with glioblastoma multiforme. 
  • Ankyrin-G Inhibits Endocytosis of Cadherin Dimers. 
  • Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7. 
  • Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. 
  • Biochemical characterization of Leishmania major aquaglyceroporin LmAQP1: possible role in volume regulation and osmotaxis. 
  • CXCR1-mediated neutrophil degranulation and fungal killing promote Candida clearance and host survival. 
  • Calmodulin activation by calcium transients in the postsynaptic density of dendritic spines. 
  • Cch1 mediates calcium entry in Cryptococcus neoformans and is essential in low-calcium environments. 
  • Development of a high-throughput screening assay for inhibitors of small ubiquitin-like modifier proteases. 
  • Differential loss of prolyl isomerase or chaperone activity of Ran-binding protein 2 (Ranbp2) unveils distinct physiological roles of its cyclophilin domain in proteostasis. 
  • Dihydropteroate synthase mutations in Pneumocystis pneumonia: impact of applying different definitions of prophylaxis, mortality endpoints and mutant in a single cohort. 
  • Disruption of the HIV-1 Envelope allosteric network blocks CD4-induced rearrangements. 
  • Distinct conformations of GPCR-β-arrestin complexes mediate desensitization, signaling, and endocytosis. 
  • Distinct functions of POT1 at telomeres. 
  • Distinct sensitivities to phosphate deprivation suggest that RGF peptides play disparate roles in Arabidopsis thaliana root development. 
  • Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease. 
  • EGFR and EGFRvIII undergo stress- and EGFR kinase inhibitor-induced mitochondrial translocalization: a potential mechanism of EGFR-driven antagonism of apoptosis. 
  • Endogenous RGS proteins attenuate Galpha(i)-mediated lysophosphatidic acid signaling pathways in ovarian cancer cells. 
  • Engineered site-directed labeling of nicotinic acetylcholine receptors using reactive epibatidine derivatives: appraisal of epibatidine-docking models in neuronal and muscular receptors. 
  • Epigenetic basis of oncogenic-Kras-mediated epithelial-cellular proliferation and plasticity. 
  • Evidence for type II cells as cells of origin of K-Ras-induced distal lung adenocarcinoma. 
  • FGF14 modulates resurgent sodium current in mouse cerebellar Purkinje neurons. 
  • FKBP12 dimerization mutations effect FK506 binding and differentially alter calcineurin inhibition in the human pathogen Aspergillus fumigatus. 
  • Fibroblast growth factor blocks Sonic hedgehog signaling in neuronal precursors and tumor cells. 
  • Folding Landscape of Mutant Huntingtin Exon1: Diffusible Multimers, Oligomers and Fibrils, and No Detectable Monomer. 
  • Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 
  • Generation and customization of biosynthetic excitable tissues for electrophysiological studies and cell-based therapies. 
  • Generation of random mutant libraries with multiple primers in a single reaction. 
  • Genetic organization, length conservation, and evolution of RNA polymerase II carboxyl-terminal domain. 
  • HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. 
  • Hdm2 is regulated by K-Ras and mediates p53-independent functions in pancreatic cancer cells. 
  • Heme-assisted S-nitrosation desensitizes ferric soluble guanylate cyclase to nitric oxide. 
  • High-Resolution Mapping of Homologous Recombination Events in rad3 Hyper-Recombination Mutants in Yeast. 
  • Hot Spot Mutagenesis Improves the Functional Expression of Unique Mammalian Odorant Receptors. 
  • Impact of Sulfadoxine-Pyrimethamine Resistance on Effectiveness of Intermittent Preventive Therapy for Malaria in Pregnancy at Clearing Infections and Preventing Low Birth Weight. 
  • Inhibiting the palmitoylation/depalmitoylation cycle selectively reduces the growth of hematopoietic cells expressing oncogenic Nras. 
  • Inhibition of apoptosome formation by suppression of Hsp90beta phosphorylation in tyrosine kinase-induced leukemias. 
  • Inhibition of pyruvate kinase M2 by reactive oxygen species contributes to cellular antioxidant responses. 
  • Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. 
  • Mechanism of neutralization by the broadly neutralizing HIV-1 monoclonal antibody VRC01. 
  • Molecular evidence of sequential evolution of DDT- and pyrethroid-resistant sodium channel in Aedes aegypti. 
  • Multiple Surface Regions on the Niemann-Pick C2 Protein Facilitate Intracellular Cholesterol Transport. 
  • Mutations in Drosophila crinkled/Myosin VIIA disrupt denticle morphogenesis. 
  • Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. 
  • Pain perception is altered by a nucleotide polymorphism in SCN9A. 
  • Plasticity of lipid-protein interactions in the function and topogenesis of the membrane protein lactose permease from Escherichia coli. 
  • Reassessing the role of the secreted protease CPAF in Chlamydia trachomatis infection through genetic approaches. 
  • Regulatory switch at the cytoplasmic interface controls TRPV channel gating. 
  • Removal of a single N-linked glycan in human immunodeficiency virus type 1 gp120 results in an enhanced ability to induce neutralizing antibody responses. 
  • Results from a randomized trial of salvage chemotherapy followed by lestaurtinib for patients with FLT3 mutant AML in first relapse. 
  • Sestrin mediates detection of and adaptation to low-leucine diets in Drosophila. 
  • Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. 
  • Structural insight and characterization of human Twinkle helicase in mitochondrial disease. 
  • Structural mechanism of organic hydroperoxide induction of the transcription regulator OhrR. 
  • Subcellular localization and functional analysis of the Arabidopsis GTPase RabE. 
  • TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse. 
  • Targeting mutant estrogen receptors. 
  • Temperature-Dependent Interactions Explain Normal and Inverted Solubility in a γD-Crystallin Mutant. 
  • Temperature-induced opening of TRPV1 ion channel is stabilized by the pore domain. 
  • The E2-like conjugation enzyme Atg3 promotes binding of IRG and Gbp proteins to Chlamydia- and Toxoplasma-containing vacuoles and host resistance. 
  • The Lipid Kinase PI5P4Kβ Is an Intracellular GTP Sensor for Metabolism and Tumorigenesis. 
  • The deubiquitinases USP33 and USP20 coordinate beta2 adrenergic receptor recycling and resensitization. 
  • The essential sequence elements required for RNAP II carboxyl-terminal domain function in yeast and their evolutionary conservation. 
  • The tail domain of the Aspergillus fumigatus class V myosin MyoE orchestrates septal localization and hyphal growth. 
  • Topology of mammalian isoprenylcysteine carboxyl methyltransferase determined in live cells with a fluorescent probe. 
  • Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. 
  • Uncoupling of nucleotide hydrolysis and polymerization in the ParA protein superfamily disrupts DNA segregation dynamics. 
  • Unphosphorylated STAT3 modulates alpha 7 nicotinic receptor signaling and cytokine production in sepsis. 
  • epitopes immediately below the base of the V3 loop of gp120 as targets for the initial autologous neutralizing antibody response in two HIV-1 subtype B-infected individuals. 
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  Keywords of People

  • Ferreira, Paulo Alexandre, Associate Professor in Ophthalmology, Pathology
  • Hogan, Brigid L. M., George Barth Geller Distinguished Professor for Research in Molecular Biology, Cell Biology
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Pitt, Geoffrey Stuart, Adjunct Professor in the Department of Medicine, Medicine, Cardiology
  • Sampson, John Howard, Robert H., M.D. and Gloria Wilkins Professor of Neurosurgery, in the School of Medicine, Biomedical Engineering
  • Sparks, Matthew A., Associate Professor of Medicine, Medicine, Nephrology
  • Yan, Hai, Adjunct Professor of Pathology, Pathology