Experts and Doctors on mutation in Worcester, Massachusetts, United States

Summary

Locale: Worcester, Massachusetts, United States
Topic: mutation

Top Publications

  1. Campbell R, Liu F, Ross A. Allosteric activation of PTEN phosphatase by phosphatidylinositol 4,5-bisphosphate. J Biol Chem. 2003;278:33617-20 pubmed
    ..These results suggest a model in which a PI(4,5)P2 monomer binds to PTEN, initiates an allosteric conformational change and, thereby, activates PTEN independent of membrane binding. ..
  2. Saeki N, Tokuo H, Ikebe M. BIG1 is a binding partner of myosin IXb and regulates its Rho-GTPase activating protein activity. J Biol Chem. 2005;280:10128-34 pubmed
    ..The findings raise a concept that the myosin transports the signaling molecule as a cargo that functions as a regulator for the myosin molecule. ..
  3. Liu F, Wagner S, Campbell R, Nickerson J, Schiffer C, Ross A. PTEN enters the nucleus by diffusion. J Cell Biochem. 2005;96:221-34 pubmed
    ..We conclude that PTEN enters the nucleus by diffusion. In addition, sequestration of PTEN in the cytoplasm likely limits PTEN nuclear translocation. ..
  4. Willis N, Rhind N. The fission yeast Rad32(Mre11)-Rad50-Nbs1 complex acts both upstream and downstream of checkpoint signaling in the S-phase DNA damage checkpoint. Genetics. 2010;184:887-97 pubmed publisher
    ..Genetic interactions between MRN and Rhp51, the fission yeast Rad51 homolog, lead us to suggest that MRN participates in checkpoint-dependent replication slowing through negative regulation of recombination. ..
  5. Mondoux M, Love D, Ghosh S, Fukushige T, Bond M, Weerasinghe G, et al. O-linked-N-acetylglucosamine cycling and insulin signaling are required for the glucose stress response in Caenorhabditis elegans. Genetics. 2011;188:369-82 pubmed publisher
  6. Mueller C, Tang Q, Gruntman A, Blomenkamp K, Teckman J, Song L, et al. Sustained miRNA-mediated knockdown of mutant AAT with simultaneous augmentation of wild-type AAT has minimal effect on global liver miRNA profiles. Mol Ther. 2012;20:590-600 pubmed publisher
    ..This safe dual-therapy approach can be applied to other disorders such as amyotrophic lateral sclerosis, Huntington disease, cerebral ataxia, and optic atrophies. ..
  7. Sparks C, Morphew M, McCollum D. Sid2p, a spindle pole body kinase that regulates the onset of cytokinesis. J Cell Biol. 1999;146:777-90 pubmed
  8. Guertin D, McCollum D. Interaction between the noncatalytic region of Sid1p kinase and Cdc14p is required for full catalytic activity and localization of Sid1p. J Biol Chem. 2001;276:28185-9 pubmed
    ..We conclude that Cdc14p positively regulates the Sid1p kinase by binding the noncatalytic carboxyl-terminal region of the protein. ..
  9. Wang D, Höing S, Patterson H, Ahmad U, Rathinam V, Rajewsky K, et al. Inflammation in mice ectopically expressing human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T mutant proteins. J Biol Chem. 2013;288:4594-601 pubmed publisher

More Information

Publications115 found, 100 shown here

  1. De Zutter J, Levine K, Deng D, Carruthers A. Sequence determinants of GLUT1 oligomerization: analysis by homology-scanning mutagenesis. J Biol Chem. 2013;288:20734-44 pubmed publisher
    ..Substitution of GLUT1 TM9 with GLUT3 TM9 causes chimeric GLUT1 to resolve as a mixture of 6- and 4-nm particles. We discuss these findings in the context of determinants of GLUT oligomeric structure and transport function. ..
  2. Gulati S, Cox A, Lewis L, Michael F, Li J, Boden R, et al. Enhanced factor H binding to sialylated Gonococci is restricted to the sialylated lacto-N-neotetraose lipooligosaccharide species: implications for serum resistance and evidence for a bifunctional lipooligosaccharide sialyltransferase in Gonococci. Infect Immun. 2005;73:7390-7 pubmed publisher
    ..Thus, serum resistance mediated by sialylation of gonococcal L1 and LNT LOS occurs by different mechanisms, and specificity of factor H binding to sialylated gonococci is restricted to the LNT LOS species...
  3. Eren E, van den Berg B. Structural basis for activation of an integral membrane protease by lipopolysaccharide. J Biol Chem. 2012;287:23971-6 pubmed publisher
  4. Hirschman J, Jenness D. Dual lipid modification of the yeast ggamma subunit Ste18p determines membrane localization of Gbetagamma. Mol Cell Biol. 1999;19:7705-11 pubmed
    ..We conclude that tight membrane attachment of the wild-type Gbetagamma depends on palmitoylation at Cys 106 and prenylation at Cys 107 of Ste18p. ..
  5. Yagi Y, Ip Y. Helicase89B is a Mot1p/BTAF1 homologue that mediates an antimicrobial response in Drosophila. EMBO Rep. 2005;6:1088-94 pubmed
    ..Thus, Helicase89B positively regulates gene expression during innate immune response and may act as a link between NF-kappaB-related transcription factors and the basal transcription machinery. ..
  6. Renzette N, Caffrey D, Zeldovich K, Liu P, Gallagher G, Aiello D, et al. Evolution of the influenza A virus genome during development of oseltamivir resistance in vitro. J Virol. 2014;88:272-81 pubmed publisher
    ..These collective results could offer an explanation for the recent reproducible rise in oseltamivir resistance in seasonal H1N1 IAV strains in humans. ..
  7. Pazour G, Dickert B, Vucica Y, Seeley E, Rosenbaum J, Witman G, et al. Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella. J Cell Biol. 2000;151:709-18 pubmed
    ..This indicates that IFT is important for primary cilia assembly in mammals. It is likely that primary cilia have an important function in the kidney and that defects in their assembly can lead to polycystic kidney disease. ..
  8. Richter S, Cao H, Rana T. Specific HIV-1 TAR RNA loop sequence and functional groups are required for human cyclin T1-Tat-TAR ternary complex formation. Biochemistry. 2002;41:6391-7 pubmed
    ..CycT1-Tat interaction with TAR RNA represents another example of the flexibility and complexity of RNA structure involved in protein recognition. ..
  9. Mackness B, Tran M, McClain S, Matthews C, Zitzewitz J. Folding of the RNA recognition motif (RRM) domains of the amyotrophic lateral sclerosis (ALS)-linked protein TDP-43 reveals an intermediate state. J Biol Chem. 2014;289:8264-76 pubmed publisher
    ..The intermediate state may also serve as a molecular hazard linking productive folding and function with pathological misfolding and aggregation that may contribute to disease. ..
  10. Matranga C, Tomari Y, Shin C, Bartel D, Zamore P. Passenger-strand cleavage facilitates assembly of siRNA into Ago2-containing RNAi enzyme complexes. Cell. 2005;123:607-20 pubmed
    ..For siRNAs, virtually all RISC is assembled through this cleavage-assisted mechanism. In contrast, passenger-strand cleavage is not important for the incorporation of miRNAs that derive from mismatched duplexes. ..
  11. Wu C, Fallini C, Ticozzi N, Keagle P, Sapp P, Piotrowska K, et al. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature. 2012;488:499-503 pubmed publisher
    ..Furthermore, primary motor neurons expressing mutant PFN1 display smaller growth cones with a reduced F/G-actin ratio. These observations further document that cytoskeletal pathway alterations contribute to ALS pathogenesis. ..
  12. Tripathi A, Mandon E, Gilmore R, Rapoport T. Two alternative binding mechanisms connect the protein translocation Sec71-Sec72 complex with heat shock proteins. J Biol Chem. 2017;292:8007-8018 pubmed publisher
    ..Taken together, our results suggest that translocation substrates can be recruited to the Sec71-Sec72 complex either post-translationally through Ssa1 or co-translationally through Ssb1. ..
  13. Chang T, Jaffray J, Woda B, Newburger P, Usmani G. Hemophagocytic lymphohistiocytosis with MUNC13-4 gene mutation or reduced natural killer cell function prior to onset of childhood leukemia. Pediatr Blood Cancer. 2011;56:856-8 pubmed publisher
    ..HLH patients with genetic mutations or NK cell function abnormalities need monitoring for future malignancy even if the HLH resolves. ..
  14. Baek S, Li A, Sassetti C. Metabolic regulation of mycobacterial growth and antibiotic sensitivity. PLoS Biol. 2011;9:e1001065 pubmed publisher
    ..Thus, this regulatory pathway contributes to antibiotic tolerance in vivo, and its modulation may represent a novel strategy for accelerating TB treatment. ..
  15. Myers A, Filiaci V, Zhang Y, Pearl M, Behbakht K, Makker V, et al. Tumor mutational analysis of GOG248, a phase II study of temsirolimus or temsirolimus and alternating megestrol acetate and tamoxifen for advanced endometrial cancer (EC): An NRG Oncology/Gynecologic Oncology Group study. Gynecol Oncol. 2016;141:43-8 pubmed publisher
    ..Mutations in AKT1, TSC1 and TSC2 are rare, but may predict clinical benefit from temsirolimus. CTNNB1 mutations were associated with longer PFS on temsirolimus. ..
  16. Zhu H, Sauman I, Yuan Q, Casselman A, Emery Le M, Emery P, et al. Cryptochromes define a novel circadian clock mechanism in monarch butterflies that may underlie sun compass navigation. PLoS Biol. 2008;6:e4 pubmed publisher
    ..Our data further suggest that CRY2 may have a dual role in the monarch butterfly's brain-as a core clock element and as an output that regulates circadian activity in the central complex, the likely site of the sun compass. ..
  17. Brancho D, Tanaka N, Jaeschke A, Ventura J, Kelkar N, Tanaka Y, et al. Mechanism of p38 MAP kinase activation in vivo. Genes Dev. 2003;17:1969-78 pubmed
    ..These data indicate that p38 MAPK is regulated by the coordinated and selective actions of three different protein kinases in response to cytokines and exposure to environmental stress. ..
  18. Petrash H, Philbrook A, Haburcak M, Barbagallo B, Francis M. ACR-12 ionotropic acetylcholine receptor complexes regulate inhibitory motor neuron activity in Caenorhabditis elegans. J Neurosci. 2013;33:5524-32 pubmed publisher
  19. Cheesman H, Feinbaum R, Thekkiniath J, Dowen R, Conery A, Pukkila Worley R. Aberrant Activation of p38 MAP Kinase-Dependent Innate Immune Responses Is Toxic to Caenorhabditis elegans. G3 (Bethesda). 2016;6:541-9 pubmed publisher
    ..Together, these data suggest that the activity of the MAPKKK NSY-1 is tightly regulated as part of a physiological mechanism to control p38 MAPK-mediated innate immune hyperactivation, and ensure cellular homeostasis in C. elegans. ..
  20. Hua Y, Zhou J. Modulation of SMN nuclear foci and cytoplasmic localization by its C-terminus. Cell Mol Life Sci. 2004;61:2658-63 pubmed
    ..We conclude that exon 6 and exon 7 synergistically regulate SMN distribution that may require specific exon 6 motifs but is independent of specific sequences in exon 7. ..
  21. Carruthers A, DeZutter J, Ganguly A, Devaskar S. Will the original glucose transporter isoform please stand up!. Am J Physiol Endocrinol Metab. 2009;297:E836-48 pubmed publisher
    ..Finally, we review the role of GLUT1 in the absence or deficiency of a related isoform, GLUT3, toward establishing the physiological significance of coordination between these two isoforms. ..
  22. Alexa K, Choe S, Hirsch N, Etheridge L, Laver E, SAGERSTROM C. Maternal and zygotic aldh1a2 activity is required for pancreas development in zebrafish. PLoS ONE. 2009;4:e8261 pubmed publisher
    ..We conclude that Aldh1a2 is the primary Aldh acting during pancreas development and that maternal Aldh1a2 activity persists in aldh1a2(um22) and aldh1a2(i26) mutant embryos...
  23. MITTAL S, Cai Y, Nalam M, Bolon D, Schiffer C. Hydrophobic core flexibility modulates enzyme activity in HIV-1 protease. J Am Chem Soc. 2012;134:4163-8 pubmed publisher
  24. Denton D, Aung Htut M, Lorensuhewa N, Nicolson S, Zhu W, Mills K, et al. UTX coordinates steroid hormone-mediated autophagy and cell death. Nat Commun. 2013;4:2916 pubmed publisher
  25. Bhaumik S, Green M. Differential requirement of SAGA components for recruitment of TATA-box-binding protein to promoters in vivo. Mol Cell Biol. 2002;22:7365-71 pubmed
    ..In summary, we show that SAGA-dependent promoters require different combinations of SAGA components for TBP recruitment, revealing a complex combinatorial network for transcription activation in vivo. ..
  26. Yu F, Zhou J. Parkin is ubiquitinated by Nrdp1 and abrogates Nrdp1-induced oxidative stress. Neurosci Lett. 2008;440:4-8 pubmed publisher
    ..Together, we provided evidence that interactions between Nrdp1 and Parkin negatively regulated Parkin level and affected ROS production, suggesting that Nrdp1 may play a role in Parkinson's disease. ..
  27. Dallmann R, Weaver D. Altered body mass regulation in male mPeriod mutant mice on high-fat diet. Chronobiol Int. 2010;27:1317-28 pubmed publisher
    ..Surprisingly, mPer3 single-deficient animals mimicked this phenotype, suggesting a previously unrecognized role for mPer3 in body mass regulation. ..
  28. Palace S, Proulx M, Lu S, Baker R, Goguen J. Genome-wide mutant fitness profiling identifies nutritional requirements for optimal growth of Yersinia pestis in deep tissue. MBio. 2014;5: pubmed publisher
    ..Most of these functions are needed to acquire or synthesize nutrients. Interference with these critical nutrient acquisition pathways may be an effective strategy for designing novel antibiotics and vaccines. ..
  29. Shen H, Green M. RS domains contact splicing signals and promote splicing by a common mechanism in yeast through humans. Genes Dev. 2006;20:1755-65 pubmed
    ..Our results reveal a common mechanism of RS domain function in yeast through humans. ..
  30. Noorwez S, Sama R, Kaushal S. Calnexin improves the folding efficiency of mutant rhodopsin in the presence of pharmacological chaperone 11-cis-retinal. J Biol Chem. 2009;284:33333-42 pubmed publisher
    ..These results demonstrate that misfolded rather than correctly folded rhodopsin is a substrate for Cnx and that the interaction between Cnx and mutant, misfolded rhodopsin, can be targeted to increase the yield of folded mutant protein...
  31. Patel S, Lewis B, Long J, Nambi S, Sassetti C, Stemmler T, et al. Fine-tuning of Substrate Affinity Leads to Alternative Roles of Mycobacterium tuberculosis Fe2+-ATPases. J Biol Chem. 2016;291:11529-39 pubmed publisher
    ..CtpD, required for M. tuberculosis virulence, is a high affinity Fe(2+) transporter involved in the rapid response to iron dyshomeostasis generated upon redox stress. ..
  32. Gandhi R, Bonaccorsi S, Wentworth D, Doxsey S, Gatti M, Pereira A. The Drosophila kinesin-like protein KLP67A is essential for mitotic and male meiotic spindle assembly. Mol Biol Cell. 2004;15:121-31 pubmed
  33. Pan X, Eathiraj S, Munson M, Lambright D. TBC-domain GAPs for Rab GTPases accelerate GTP hydrolysis by a dual-finger mechanism. Nature. 2006;442:303-6 pubmed
    ..Strong conservation of both catalytic fingers indicates that most TBC-domain GAPs may accelerate GTP hydrolysis by a similar dual-finger mechanism. ..
  34. Bennett G, Papamichos Chronakis M, Peterson C. DNA repair choice defines a common pathway for recruitment of chromatin regulators. Nat Commun. 2013;4:2084 pubmed publisher
    ..X phosphorylation. Our work indicates that cell cycle position has a key role in DNA repair pathway choice and that recruitment of chromatin regulators is tightly coupled to homologous recombination. ..
  35. Thornton T, Delgado P, Chen L, Salas B, Krementsov D, Fernández M, et al. Inactivation of nuclear GSK3β by Ser(389) phosphorylation promotes lymphocyte fitness during DNA double-strand break response. Nat Commun. 2016;7:10553 pubmed publisher
    ..Preselection-Tcrβ repertoire is impaired and antigen-specific IgG antibody responses following immunization are blunted in Ser(389)GSK3β knockin mice. Thus, GSK3β emerges as an important modulator of the adaptive immune response. ..
  36. Zuk D, Belk J, Jacobson A. Temperature-sensitive mutations in the Saccharomyces cerevisiae MRT4, GRC5, SLA2 and THS1 genes result in defects in mRNA turnover. Genetics. 1999;153:35-47 pubmed
    ..The growth and mRNA decay defects of ts942 (grc5) cells were suppressed by overexpression of the NMD3 gene, encoding a protein shown to participate in a two-hybrid interaction with the nonsense-mediated decay protein Upf1p. ..
  37. Blanc Brude O, Mesri M, Wall N, Plescia J, Dohi T, Altieri D. Therapeutic targeting of the survivin pathway in cancer: initiation of mitochondrial apoptosis and suppression of tumor-associated angiogenesis. Clin Cancer Res. 2003;9:2683-92 pubmed
  38. Gegear R, Casselman A, Waddell S, Reppert S. Cryptochrome mediates light-dependent magnetosensitivity in Drosophila. Nature. 2008;454:1014-8 pubmed publisher
    ..Moreover, Cry-dependent magnetosensitivity does not require a functioning circadian clock. Our work provides, to our knowledge, the first genetic evidence for a Cry-based magnetosensitive system in any animal. ..
  39. Johnson C, Primorac D, McKinstry M, McNeil J, Rowe D, Lawrence J. Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain. J Cell Biol. 2000;150:417-32 pubmed
    ..This paradigm may apply to SC-35 domains more generally, which we suggest may be nucleated at sites of high demand and comprise factors being actively used to facilitate expression of associated loci. ..
  40. Ali A, Reddy G, Nalam M, Anjum S, Cao H, Schiffer C, et al. Structure-based design, synthesis, and structure-activity relationship studies of HIV-1 protease inhibitors incorporating phenyloxazolidinones. J Med Chem. 2010;53:7699-708 pubmed publisher
    ..Further optimization of these compounds using structure-based design may lead to the development of novel protease inhibitors with improved activity against drug-resistant strains of HIV-1. ..
  41. Chow C, Dong C, Flavell R, Davis R. c-Jun NH(2)-terminal kinase inhibits targeting of the protein phosphatase calcineurin to NFATc1. Mol Cell Biol. 2000;20:5227-34 pubmed
    ..This disruption of calcineurin targeting inhibits the nuclear accumulation and transcription activity of NFATc1 and accounts for the observation that Jnk1(-/-) T cells exhibit greatly increased NFATc1-dependent nuclear responses. ..
  42. Hill D, de la Serna I, Veal T, Imbalzano A. BRCA1 interacts with dominant negative SWI/SNF enzymes without affecting homologous recombination or radiation-induced gene activation of p21 or Mdm2. J Cell Biochem. 2004;91:987-98 pubmed
    ..We conclude that the SWI/SNF chromatin remodeling enzymes may contribute to but are not required for these processes. ..
  43. Lo C, Buxton D, Chua G, Dembo M, Adelstein R, Wang Y. Nonmuscle myosin IIb is involved in the guidance of fibroblast migration. Mol Biol Cell. 2004;15:982-9 pubmed
    ..Our results suggest that myosin IIB is involved not in propelling but in directing the cell movement, by coordinating protrusive activities and stabilizing the cell polarity. ..
  44. Chen C, Feoktistova A, Chen J, Shim Y, Clifford D, Gould K, et al. The SIN kinase Sid2 regulates cytoplasmic retention of the S. pombe Cdc14-like phosphatase Clp1. Curr Biol. 2008;18:1594-9 pubmed publisher
    ..Because all components of this pathway are conserved, this might be a broadly conserved mechanism for regulation of Cdc14-family phosphatases. ..
  45. Choe S, Hirsch N, Zhang X, SAGERSTROM C. hnf1b genes in zebrafish hindbrain development. Zebrafish. 2008;5:179-87 pubmed publisher
  46. Mueller C, Braag S, Keeler A, Hodges C, DRUMM M, Flotte T. Lack of cystic fibrosis transmembrane conductance regulator in CD3+ lymphocytes leads to aberrant cytokine secretion and hyperinflammatory adaptive immune responses. Am J Respir Cell Mol Biol. 2011;44:922-9 pubmed publisher
    ..In summary, our data identified that CFTR dysfunction in T cells can lead directly to aberrant immune responses. These findings implicate the lymphocyte population as a potentially important target for CF therapeutics. ..
  47. Pursell N, Mishra P, Bolon D. Solubility-promoting function of Hsp90 contributes to client maturation and robust cell growth. Eukaryot Cell. 2012;11:1033-41 pubmed publisher
    ..These findings demonstrate a novel biological function of the intrinsically disordered regions in Hsp90 and provide a compelling rationale for why their charged properties are conserved throughout eukaryotic evolution. ..
  48. E X, Savidis G, Chin C, Wang S, Lu S, Brass A, et al. A novel DDB2-ATM feedback loop regulates human cytomegalovirus replication. J Virol. 2014;88:2279-90 pubmed publisher
    ..Together, these results demonstrate that DDB2 and a DDB2-ATM feedback loop influence HCMV replication. ..
  49. Baker R, Harris K, Zhang K. Mutations synthetically lethal with cep1 target S. cerevisiae kinetochore components. Genetics. 1998;149:73-85 pubmed
    ..The results are consistent with the view that the major cellular role of CP1 is to safeguard the biochemical integrity of the kinetochore. ..
  50. Chow C, Davis R. Integration of calcium and cyclic AMP signaling pathways by 14-3-3. Mol Cell Biol. 2000;20:702-12 pubmed
    ..The regulated interaction between NFAT and 14-3-3 provides a mechanism for the integration of calcium and cAMP signaling pathways. ..
  51. He F, Jacobson A. Upf1p, Nmd2p, and Upf3p regulate the decapping and exonucleolytic degradation of both nonsense-containing mRNAs and wild-type mRNAs. Mol Cell Biol. 2001;21:1515-30 pubmed
    ..The participation of the NMD factors in general mRNA degradation suggests that they may regulate an aspect of translation termination common to all transcripts. ..
  52. Bond A, Mangus D, He F, Jacobson A. Absence of Dbp2p alters both nonsense-mediated mRNA decay and rRNA processing. Mol Cell Biol. 2001;21:7366-79 pubmed
  53. Wyrzykowski J, Volkert M. The Escherichia coli methyl-directed mismatch repair system repairs base pairs containing oxidative lesions. J Bacteriol. 2003;185:1701-4 pubmed
    ..These findings demonstrate that MMR has the ability to prevent oxidative mutagenesis either by removing 8-oxoG directly or by removing adenine misincorporated opposite 8-oxoG or both. ..
  54. Mankidy R, Hastings J, Thackeray J. Distinct phospholipase C-gamma-dependent signaling pathways in the Drosophila eye and wing are revealed by a new small wing allele. Genetics. 2003;164:553-63 pubmed
  55. Calmann M, Marinus M. Regulated expression of the Escherichia coli dam gene. J Bacteriol. 2003;185:5012-4 pubmed
    ..Cultures of dam mutants containing plasmid pMQ430 show no detectable methylation in the absence of arabinose and complete methylation in its presence. Dam methyltransferase is a substrate for the Lon protease. ..
  56. Oikemus S, McGinnis N, Queiroz Machado J, Tukachinsky H, Takada S, Sunkel C, et al. Drosophila atm/telomere fusion is required for telomeric localization of HP1 and telomere position effect. Genes Dev. 2004;18:1850-61 pubmed
    ..We propose that recognition of chromosome ends by ATM prevents telomere fusion and apoptosis by recruiting chromatin-modifying complexes to telomeres. ..
  57. Chen H, Rud J, Lin K, Xu L. Nuclear targeting of transforming growth factor-beta-activated Smad complexes. J Biol Chem. 2005;280:21329-36 pubmed
    ..Indeed tumorigenic mutations in Smad4 that affect its interaction with Smad2 or Smad3 impair nuclear accumulation of Smad4 in response to TGF-beta. ..
  58. Eathiraj S, Pan X, Ritacco C, Lambright D. Structural basis of family-wide Rab GTPase recognition by rabenosyn-5. Nature. 2005;436:415-9 pubmed
  59. Fonseca S, Fukuma M, Lipson K, Nguyen L, Allen J, Oka Y, et al. WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells. J Biol Chem. 2005;280:39609-15 pubmed
    ..These results indicate that the pathogenesis of Wolfram syndrome involves chronic ER stress in pancreatic beta-cells caused by the loss of function of WFS1. ..
  60. Heilman S, Kuo Y, Goudswaard C, Valk P, Castilla L. Cbfbeta reduces Cbfbeta-SMMHC-associated acute myeloid leukemia in mice. Cancer Res. 2006;66:11214-8 pubmed
  61. Mukhopadhyay A, Pan X, Lambright D, Tissenbaum H. An endocytic pathway as a target of tubby for regulation of fat storage. EMBO Rep. 2007;8:931-8 pubmed
    ..We propose that TUB-1 controls receptor or sensory molecule degradation in neurons by regulating a RAB-7-mediated endocytic pathway. ..
  62. González Guerrero M, Hong D, ARGUELLO J. Chaperone-mediated Cu+ delivery to Cu+ transport ATPases: requirement of nucleotide binding. J Biol Chem. 2009;284:20804-11 pubmed publisher
    ..Interestingly, independent of TM-MBS Cu(+) loading, nucleotide binding also prevents the regulatory interaction of the N-terminal cytoplasmic metal-binding domain with the nucleotide binding domain. ..
  63. Meng J, Drolet J, Monks B, Golenbock D. MD-2 residues tyrosine 42, arginine 69, aspartic acid 122, and leucine 125 provide species specificity for lipid IVA. J Biol Chem. 2010;285:27935-43 pubmed publisher
    ..Thus, surface charge differences at the two MD-2/TLR4 interfaces determine the species-specific activation of lipid IV(A). ..
  64. Zhang Z, Almeida S, Lu Y, Nishimura A, Peng L, Sun D, et al. Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations. PLoS ONE. 2013;8:e76055 pubmed publisher
    ..These results show that iPSC models of FTD/ALS are useful for revealing stress-dependent cellular defects of human patient neurons containing rare TDP-43 mutations in their native genetic contexts. ..
  65. Zwarycz A, Fossat M, Akanyeti O, Lin Z, Rosenman D, Garcia A, et al. V67L Mutation Fills an Internal Cavity To Stabilize RecA Mtu Intein. Biochemistry. 2017;56:2715-2722 pubmed publisher
    ..It is plausible that changes in cavities in V67L can also mediate allosteric effects to change active site dynamics and enhance intein activity...
  66. Wu T, Marinus M. Deletion mutation analysis of the mutS gene in Escherichia coli. J Biol Chem. 1999;274:5948-52 pubmed
    ..Given the extensive amino acid homology in the MutS family our results with E. coli should be applicable to MutS homologues in other prokaryotes and eukaryotes. ..
  67. Swingler S, Mann A, Jacque J, Brichacek B, Sasseville V, Williams K, et al. HIV-1 Nef mediates lymphocyte chemotaxis and activation by infected macrophages. Nat Med. 1999;5:997-103 pubmed
    ..These results indicate a role for Nef in lymphocyte recruitment and activation at sites of virus replication. ..
  68. Wichroski M, Ichiyama K, Rana T. Analysis of HIV-1 viral infectivity factor-mediated proteasome-dependent depletion of APOBEC3G: correlating function and subcellular localization. J Biol Chem. 2005;280:8387-96 pubmed
    ..Taken together, these results demonstrate that cytoplasmic Vif-APOBEC3G interactions are required but are not sufficient for Vif to modulate APOBEC3G and can be monitored by co-localization in vivo. ..
  69. Calmann M, Nowosielska A, Marinus M. The MutS C terminus is essential for mismatch repair activity in vivo. J Bacteriol. 2005;187:6577-9 pubmed
    ..This strain has a MutS null phenotype for mutation avoidance, anti-recombination, and sensitivity to cytotoxic agents in a dam mutant background. ..
  70. Marfella C, Ohkawa Y, Coles A, Garlick D, Jones S, Imbalzano A. Mutation of the SNF2 family member Chd2 affects mouse development and survival. J Cell Physiol. 2006;209:162-71 pubmed
    ..In particular, approximately 85% of the heterozygotes showed gross kidney abnormalities. Our results demonstrate that mutation of Chd2 dramatically affects mammalian development and long-term survival. ..
  71. Gong P, Han J, Reddig K, Li H. A potential dimerization region of dCAMTA is critical for termination of fly visual response. J Biol Chem. 2007;282:21253-8 pubmed
    ..Our data suggest that dCAMTA may function as a dimer during fly visual regulation and that the CG-1 domain may mediate dimerization of CAMTA transcription factors. ..
  72. Krashes M, Waddell S. Rapid consolidation to a radish and protein synthesis-dependent long-term memory after single-session appetitive olfactory conditioning in Drosophila. J Neurosci. 2008;28:3103-13 pubmed publisher
    ..Last, experiments feeding and/or starving flies after training reveals a critical motivational drive that enables appetitive LTM retrieval. ..
  73. Houghton J, Li H, Fan X, Liu Y, Liu J, Rao V, et al. Mutations in bone marrow-derived stromal stem cells unmask latent malignancy. Stem Cells Dev. 2010;19:1153-66 pubmed publisher
    ..The significant synergy between host immunity and mesenchymal cells identified here may restructure treatments to restore an anticancer microenvironment. ..
  74. Morgan B, Massi F. A computational study of RNA binding and specificity in the tandem zinc finger domain of TIS11d. Protein Sci. 2010;19:1222-34 pubmed publisher
  75. Brehm M, Bortell R, Diiorio P, Leif J, Laning J, Cuthbert A, et al. Human immune system development and rejection of human islet allografts in spontaneously diabetic NOD-Rag1null IL2rgammanull Ins2Akita mice. Diabetes. 2010;59:2265-70 pubmed publisher
    ..To create an immunodeficient mouse model that spontaneously develops hyperglycemia to serve as a diabetic host for human islets and stem cell-derived beta-cells in the absence or presence of a functional human immune system...
  76. Newburger P, Pindyck T, Zhu Z, Bolyard A, Aprikyan A, Dale D, et al. Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. Pediatr Blood Cancer. 2010;55:314-7 pubmed publisher
  77. Burkart A, Shi X, Chouinard M, Corvera S. Adenylate kinase 2 links mitochondrial energy metabolism to the induction of the unfolded protein response. J Biol Chem. 2011;286:4081-9 pubmed publisher
    ..The requirement for AK2 for UPR induction may explain the pathogenesis of the profound hematopoietic defects of reticular dysgenesis, a disease associated with mutations of the AK2 gene in humans. ..
  78. Radman Livaja M, Verzijlbergen K, Weiner A, van Welsem T, Friedman N, Rando O, et al. Patterns and mechanisms of ancestral histone protein inheritance in budding yeast. PLoS Biol. 2011;9:e1001075 pubmed publisher
    ..Our findings further suggest that accumulation of ancestral histones could play a role in shaping histone modification patterns. ..
  79. Awasaki T, Huang Y, O Connor M, Lee T. Glia instruct developmental neuronal remodeling through TGF-? signaling. Nat Neurosci. 2011;14:821-3 pubmed publisher
    ..Thus glia orchestrate developmental neural remodeling not only by engulfment of unwanted neurites but also by enabling neuron remodeling. ..
  80. Chen A, Cornberg M, Gras S, Guillonneau C, Rossjohn J, Trees A, et al. Loss of anti-viral immunity by infection with a virus encoding a cross-reactive pathogenic epitope. PLoS Pathog. 2012;8:e1002633 pubmed publisher
    ..Thus, cross-reactive epitopes can exert pathogenic properties that compromise protective immunity by impairing more protective T cell responses...
  81. Xie J, Peng M, Guillemette S, Quan S, Maniatis S, Wu Y, et al. FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response. PLoS Genet. 2012;8:e1002786 pubmed publisher
    ..Thus, we propose that the dynamic regulation of FANCJ acetylation is critical for robust DNA damage response, recombination-based processing, and ultimately checkpoint maintenance. ..
  82. Duan M, Fan J, Huo S. Conformations of islet amyloid polypeptide monomers in a membrane environment: implications for fibril formation. PLoS ONE. 2012;7:e47150 pubmed publisher
    ..This motif that bends at His18 resembles the overall topology of IAPP fibrils. The conformational preorganization into the fibril-like topology provides a possible explanation for the fast aggregation rate of S20G IAPP. ..
  83. Lu Y, Zhang Z, Sun D, Sweeney S, Gao F. Syntaxin 13, a genetic modifier of mutant CHMP2B in frontotemporal dementia, is required for autophagosome maturation. Mol Cell. 2013;52:264-71 pubmed publisher
    ..These results suggest that STX13 is a genetic modifier of ESCRT-III dysfunction and participates in the maturation of phagophores into closed autophagosomes. ..
  84. Hong Y, Roh S, Paik D, Jeong S. Development of a Reporter System for In Vivo Monitoring of ?-Secretase Activity in Drosophila. Mol Cells. 2017;40:73-81 pubmed publisher
    ..Taken together, these results suggest that both in vivo reporter systems provide a powerful genetic tool to identify genes that modulate ?-secretase activity and/or APPL metabolism. ..
  85. Shi X, Garcia G, Van De Weghe J, McGorty R, Pazour G, Doherty D, et al. Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome. Nat Cell Biol. 2017;19:1178-1188 pubmed publisher
    ..We propose that the disruption of transition-zone architecture in JBTS leads to a failure of SMO to accumulate at the transition zone and cilium, disrupting developmental signalling in JBTS. ..
  86. Li Y, Kane T, Tipper C, Spatrick P, Jenness D. Yeast mutants affecting possible quality control of plasma membrane proteins. Mol Cell Biol. 1999;19:3588-99 pubmed
    ..These results identify potential elements of plasma membrane quality control and indicate that cytoplasmic domains of membrane proteins are translocated into the vacuolar lumen. ..
  87. Marinus M. Recombination is essential for viability of an Escherichia coli dam (DNA adenine methyltransferase) mutant. J Bacteriol. 2000;182:463-8 pubmed
    ..The requirement for recombination also suggests an explanation for the sensitivity of dam cells to certain DNA-damaging agents. ..
  88. Leo C, Li H, Chen J. Differential mechanisms of nuclear receptor regulation by receptor-associated coactivator 3. J Biol Chem. 2000;275:5976-82 pubmed
    ..These results suggest a receptor-specific binding preference for the different LXXLL motifs of RAC3, which may provide flexibility for RAC3 to differentially regulate the function of different nuclear receptors. ..
  89. Liao G, Chen L, Zhang A, Godavarthy A, Xia F, Ghosh J, et al. Regulation of androgen receptor activity by the nuclear receptor corepressor SMRT. J Biol Chem. 2003;278:5052-61 pubmed
    ..Our data establish a significant role of SMRT in modulating AR transcriptional activity. ..
  90. Abysalh J, Kuchnicki L, Larochelle D. The identification of pats1, a novel gene locus required for cytokinesis in Dictyostelium discoideum. Mol Biol Cell. 2003;14:14-25 pubmed
    ..These regulatory domains coupled with the protein-protein interacting domains suggest that pats1 is involved in signal transduction during cytokinesis in Dictyostelium. ..
  91. Corey E, Mirza A, Levandowsky E, Iorio R. Fusion deficiency induced by mutations at the dimer interface in the Newcastle disease virus hemagglutinin-neuraminidase is due to a temperature-dependent defect in receptor binding. J Virol. 2003;77:6913-22 pubmed
    ..Instead, the interface mutations acted by weakening the interaction between HN and its receptor(s). The phenotype of these mutants correlates with the disruption of intermonomer subunit interactions. ..
  92. Miele A, Braastad C, Holmes W, Mitra P, Medina R, Xie R, et al. HiNF-P directly links the cyclin E/CDK2/p220NPAT pathway to histone H4 gene regulation at the G1/S phase cell cycle transition. Mol Cell Biol. 2005;25:6140-53 pubmed
    ..Our results show that HiNF-P and p220 form a critical regulatory module that directly links histone H4 gene expression at the G1/S phase transition to the cyclin E/CDK2 signaling pathway at the R point. ..