Experts and Doctors on protein isoforms in Baltimore, Maryland, United States


Locale: Baltimore, Maryland, United States
Topic: protein isoforms

Top Publications

  1. Hishimoto A, Liu Q, Drgon T, Pletnikova O, Walther D, Zhu X, et al. Neurexin 3 polymorphisms are associated with alcohol dependence and altered expression of specific isoforms. Hum Mol Genet. 2007;16:2880-91 pubmed
  2. Yoo J, Huso D, Nathans D, Desiderio S. Specific ablation of Stat3beta distorts the pattern of Stat3-responsive gene expression and impairs recovery from endotoxic shock. Cell. 2002;108:331-44 pubmed
    ..The hepatic response to endotoxin in wild-type mice is accompanied by a transient increase in the ratio of Stat3beta to Stat3alpha. These findings indicate a critical role for Stat3beta in the control of systemic inflammation. ..
  3. Kaimori J, Nagasawa Y, Menezes L, Garcia Gonzalez M, Deng J, Imai E, et al. Polyductin undergoes notch-like processing and regulated release from primary cilia. Hum Mol Genet. 2007;16:942-56 pubmed
    ..Regulated release from the primary cilium into the lumen may be a mechanism to distribute signal to down-stream targets using flow. ..
  4. Li W, West N, Colla E, Pletnikova O, Troncoso J, Marsh L, et al. Aggregation promoting C-terminal truncation of alpha-synuclein is a normal cellular process and is enhanced by the familial Parkinson's disease-linked mutations. Proc Natl Acad Sci U S A. 2005;102:2162-7 pubmed
    ..Collectively, our results indicate that the biology behind the generation and accumulation of alpha-SynDeltaC is likely to have relevance for the initiation and the progression of alpha-Syn aggregation in vivo. ..
  5. Cui C, Durmowicz M, Ottolenghi C, Hashimoto T, Griggs B, Srivastava A, et al. Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair follicles. Hum Mol Genet. 2003;12:2931-40 pubmed
    ..The results thus reveal both initiating and trophic isoform-specific effects of the EDA gene, and suggest a possible balance of isoform interactions in skin appendage formation. ..
  6. Weller S, Cajigas I, Morrell J, Obie C, Steel G, Gould S, et al. Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. Am J Hum Genet. 2005;76:987-1007 pubmed
    ..This model predicts that, once activated in an extraperoxisomal location, PEX1 moves to the peroxisome and completes the function of the PEX1/6 heterodimer. ..
  7. Yamashita K, Kim M, Park H, Tokumaru Y, Osada M, Inoue H, et al. HOP/OB1/NECC1 promoter DNA is frequently hypermethylated and involved in tumorigenic ability in esophageal squamous cell carcinoma. Mol Cancer Res. 2008;6:31-41 pubmed publisher
  8. Sen T, Chang X, Sidransky D, Chatterjee A. Regulation of ?Np63? by NF??. Cell Cycle. 2010;9:4841-7 pubmed
    ..Our findings suggest that the activation of NF-?? may be a mechanism by which levels of ?Np63? are reduced, thereby rendering the cells susceptible to cell death in the face of cellular stress or DNA damage. ..
  9. Shen T, Liu Y, Schneider M. Localization and regulation of the N terminal splice variant of PGC-1? in adult skeletal muscle fibers. J Biomed Biotechnol. 2012;2012:989263 pubmed publisher
    ..Together these results suggest that the regulation of NT-PGC-1? in muscle fibers may be very different from that of the full-length PGC-1?, which is exclusively nuclear. ..

More Information


  1. Siu I, Bai R, Gallia G, Edwards J, Tyler B, Eberhart C, et al. Coexpression of neuronatin splice forms promotes medulloblastoma growth. Neuro Oncol. 2008;10:716-24 pubmed publisher
    ..Our findings suggest that the frequently observed overexpression of both NNAT splice forms in MB enhances growth in this cancer. ..
  2. Ahmed H, Du S, O Leary N, Vasta G. Biochemical and molecular characterization of galectins from zebrafish (Danio rerio): notochord-specific expression of a prototype galectin during early embryogenesis. Glycobiology. 2004;14:219-32 pubmed
    ..The distinct temporal and spatial patterns of expression of members of the zebrafish galectin repertoire suggest that each may play distinct biological roles during early embryogenesis. ..
  3. Hayashi T, Su T. Regulating ankyrin dynamics: Roles of sigma-1 receptors. Proc Natl Acad Sci U S A. 2001;98:491-6 pubmed
  4. Yao Y, Duh E. VEGF selectively induces Down syndrome critical region 1 gene expression in endothelial cells: a mechanism for feedback regulation of angiogenesis?. Biochem Biophys Res Commun. 2004;321:648-56 pubmed
    ..Our results indicate that DSCR1 up-regulation may represent a potential molecular mechanism underlying the regulation of angiogenic genes activated by the calcineurin-NFAT signaling pathway in endothelial cells. ..
  5. Xie Y, Xu K, Dai B, Guo Z, Jiang T, Chen H, et al. The 44 kDa Pim-1 kinase directly interacts with tyrosine kinase Etk/BMX and protects human prostate cancer cells from apoptosis induced by chemotherapeutic drugs. Oncogene. 2006;25:70-8 pubmed
    ..Our results suggest that these two isoforms of Pim-1 kinase may regulate distinct substrates and the 44 kDa Pim-1 may play a more prominent role in drug resistance in prostate cancer cells. ..
  6. Hicks S, Machamer C. Isoform-specific interaction of golgin-160 with the Golgi-associated protein PIST. J Biol Chem. 2005;280:28944-51 pubmed
    ..As predicted, golgin-160B was unable to bind PIST. Full-length golgin-160 and golgin-160B may link distinct subsets of proteins to effect specific membrane trafficking pathways. ..
  7. Severance E, Dickerson F, Stallings C, Origoni A, Sullens A, Monson E, et al. Differentiating nicotine- versus schizophrenia-associated decreases of the alpha7 nicotinic acetylcholine receptor transcript, CHRFAM7A, in peripheral blood lymphocytes. J Neural Transm (Vienna). 2009;116:213-20 pubmed publisher
    ..03), and not when smoking was self-reported. Including biochemical indicators of serum nicotine can help differentiate smoking- versus disease-associated changes in nAChR expression. ..
  8. Chaudhuri D, Issa J, Yue D. Elementary mechanisms producing facilitation of Cav2.1 (P/Q-type) channels. J Gen Physiol. 2007;129:385-401 pubmed
    ..This enhanced-opening mechanism suggests that the CDF evoked during action-potential trains would produce not only larger, but longer-lasting Ca(2+) responses, an outcome with potential ramifications for short-term synaptic plasticity. ..
  9. Xu S, Wang Y, Zhao H, Zhang L, Xiong W, Yau K, et al. PHR1, a PH domain-containing protein expressed in primary sensory neurons. Mol Cell Biol. 2004;24:9137-51 pubmed
    ..Despite this discrete expression in known and putative sensory neurons, mice lacking PHR1 do not have overt sensory deficits. ..
  10. Steinhart M, Cone F, Nguyen C, Nguyen T, Pease M, Puk O, et al. Mice with an induced mutation in collagen 8A2 develop larger eyes and are resistant to retinal ganglion cell damage in an experimental glaucoma model. Mol Vis. 2012;18:1093-106 pubmed
    ..To study susceptibility to glaucoma injury as it may be affected by mutations in ocular connective tissue components...
  11. Kim E, Kleman A, Ronnett G. Fatty acid synthase gene regulation in primary hypothalamic neurons. Neurosci Lett. 2007;423:200-4 pubmed
    ..Insulin, glucose and AICAR (an activator of AMP-activated protein kinase) affected changes in hypothalamic FAS mRNA, which may be regulated via the SREBP1c dependent or independent pathway. ..
  12. Nicholson M, Rue S, Clements J, Barber S. An internal ribosome entry site promotes translation of a novel SIV Pr55(Gag) isoform. Virology. 2006;349:325-34 pubmed publisher
    ..Additionally, we present data that suggest SIV p43 affects viral replication in cell culture...
  13. Burwell E, McCarty G, Simpson L, Thompson K, Loeb D. Isoforms of Wilms' tumor suppressor gene (WT1) have distinct effects on mammary epithelial cells. Oncogene. 2007;26:3423-30 pubmed
  14. Trudeau M, Leung L, Roti E, Robertson G. hERG1a N-terminal eag domain-containing polypeptides regulate homomeric hERG1b and heteromeric hERG1a/hERG1b channels: a possible mechanism for long QT syndrome. J Gen Physiol. 2011;138:581-92 pubmed publisher
    ..A decrease in outward current density of hERG1a/hERG1b channels by hERG1a NTRs may be a mechanism for LQTS. ..
  15. Akar F, Nass R, Hahn S, Cingolani E, Shah M, Hesketh G, et al. Dynamic changes in conduction velocity and gap junction properties during development of pacing-induced heart failure. Am J Physiol Heart Circ Physiol. 2007;293:H1223-30 pubmed
    ..These data reveal a novel paradigm of remodeling based on the timing of conduction abnormalities relative to changes in Cx43 isoforms and mechanical dysfunction. ..
  16. Barouch L, Cappola T, Harrison R, Crone J, Rodriguez E, Burnett A, et al. Combined loss of neuronal and endothelial nitric oxide synthase causes premature mortality and age-related hypertrophic cardiac remodeling in mice. J Mol Cell Cardiol. 2003;35:637-44 pubmed
    ..These findings suggest that cardiac NO signals may play an essential role in successful cardiac aging. ..
  17. Olsen O, Wade J, Morin N, Bredt D, Welling P. Differential localization of mammalian Lin-7 (MALS/Veli) PDZ proteins in the kidney. Am J Physiol Renal Physiol. 2005;288:F345-52 pubmed
    ..The TAL and distal segments appear to have the most significant capacity for a basolateral membrane-targeting mechanism involving different MALS/Veli isoforms. ..
  18. Mao P, Tao Y, Fukaya M, Tao F, Li D, Watanabe M, et al. Cloning and characterization of E-dlg, a novel splice variant of mouse homologue of the Drosophila discs large tumor suppressor binds preferentially to SAP102. IUBMB Life. 2008;60:684-92 pubmed publisher
    ..4 in a pull-down assay. E-dlg was highly expressed in embryonic and some adult mouse tissues, such as brain, kidney, and ovary. Furthermore, in situ hybridization showed that E-dlg was mostly expressed in olfactory bulb and cerebellum. ..
  19. Tamura Y, Endo T, Iijima M, Sesaki H. Ups1p and Ups2p antagonistically regulate cardiolipin metabolism in mitochondria. J Cell Biol. 2009;185:1029-45 pubmed publisher
    ..Furthermore, we observed synthetic growth defects in ups mutants in combination with loss of Pam17p, which controls the integrity of PAM. Our findings provide a novel molecular mechanism for the regulation of cardiolipin metabolism. ..
  20. Shahlaee A, Brandal S, Lee Y, Jie C, Takemoto C. Distinct and shared transcriptomes are regulated by microphthalmia-associated transcription factor isoforms in mast cells. J Immunol. 2007;178:378-88 pubmed
    ..Expression of multiple isoforms of this transcription factor may provide for redundancy of biological activities while also allowing diversity of function. ..
  21. Hashimoto T, Cui C, Schlessinger D. Repertoire of mouse ectodysplasin-A (EDA-A) isoforms. Gene. 2006;371:42-51 pubmed
    ..Other isoforms, EDA-A5 and A5', for example, activated NF-kappaB through receptors EDAR and XEDAR. These properties make new isoforms candidates for modulators of EDA function. ..
  22. Willis C, Oashi T, Busby B, MacKerell A, Bloch R. Hydrophobic residues in small ankyrin 1 participate in binding to obscurin. Mol Membr Biol. 2012;29:36-51 pubmed publisher
    ..Our results suggest that hydrophobic interactions contribute to the higher affinity of Obsc????????? for sAnk1 and to the dominant role exhibited by this sequence in binding. ..
  23. Jenkins A, Paterson C, Wang Y, Hyde T, Kleinman J, Law A. Neurexin 1 (NRXN1) splice isoform expression during human neocortical development and aging. Mol Psychiatry. 2016;21:701-6 pubmed publisher
  24. Lu C, Fu W, Xu X, Mattson M. Numb-mediated neurite outgrowth is isoform-dependent, and requires activation of voltage-dependent calcium channels. Neuroscience. 2009;161:403-12 pubmed publisher
  25. Gan Q, Chepelev I, Wei G, Tarayrah L, Cui K, Zhao K, et al. Dynamic regulation of alternative splicing and chromatin structure in Drosophila gonads revealed by RNA-seq. Cell Res. 2010;20:763-83 pubmed publisher
    ..The GEO accession number for the raw and analyzed RNA-seq data is GSE16960. ..
  26. Murray Stewart T, Wang Y, Goodwin A, Hacker A, Meeker A, Casero R. Nuclear localization of human spermine oxidase isoforms - possible implications in drug response and disease etiology. FEBS J. 2008;275:2795-806 pubmed publisher
  27. Chakraborty A, Koldobskiy M, Sixt K, Juluri K, Mustafa A, Snowman A, et al. HSP90 regulates cell survival via inositol hexakisphosphate kinase-2. Proc Natl Acad Sci U S A. 2008;105:1134-9 pubmed publisher
    ..Thus, the prosurvival actions of HSP90 reflect the inhibition of IP6K2, suggesting that selectively blocking this interaction could provide effective and safer modes of chemotherapy. ..
  28. RUGGIERO A, Liu Y, Vidensky S, Maier S, Jung E, Farhan H, et al. The endoplasmic reticulum exit of glutamate transporter is regulated by the inducible mammalian Yip6b/GTRAP3-18 protein. J Biol Chem. 2008;283:6175-83 pubmed publisher
    ..The features of GTRAP3-18 activity are consistent with recent phylogenic sequence analyses suggesting GTRAP3-18 and JM4 be reclassified as mammalian isoforms of the yeast protein family Yip, Yip6b, and Yip6a, respectively. ..
  29. Chen Y, Davidson B, Cheng C, Maitra A, Giuntoli R, Hruban R, et al. Identification and characterization of membralin, a novel tumor-associated gene, in ovarian carcinoma. Biochim Biophys Acta. 2005;1730:96-102 pubmed
    ..001). In conclusion, these findings represent the first characterization of human membralin and suggest that membralin is a novel tumor-associated marker in ovarian serous carcinomas. ..
  30. Guilarte T, McGlothan J. Selective decrease in NR1 subunit splice variant mRNA in the hippocampus of Pb2+-exposed rats: implications for synaptic targeting and cell surface expression of NMDAR complexes. Brain Res Mol Brain Res. 2003;113:37-43 pubmed
  31. Chan S, Pedersen W, Zhu H, Mattson M. Numb modifies neuronal vulnerability to amyloid beta-peptide in an isoform-specific manner by a mechanism involving altered calcium homeostasis: implications for neuronal death in Alzheimer's disease. Neuromolecular Med. 2002;1:55-67 pubmed
    ..Our findings also suggest that the effects of Numb on cell fate decisions, both during development of the nervous system and in neurodegenertive disorders, are mediated by changes in cellular calcium homeostasis. ..
  32. HOFMANN E, Nallar S, Lin L, D Cunha J, Lindner D, Weihua X, et al. Identification and characterization of GRIM-1, a cell-death-associated gene product. J Cell Sci. 2010;123:2781-91 pubmed publisher
    ..Together, these studies identified a novel protein involved in growth suppression and cell death. ..
  33. D Souza T, Indig F, Morin P. Phosphorylation of claudin-4 by PKCepsilon regulates tight junction barrier function in ovarian cancer cells. Exp Cell Res. 2007;313:3364-75 pubmed
    ..The modulation of claudin-4 activity by PKCepsilon may not only provide a mechanism for disrupting TJ function in ovarian cancer, but may also be important in the regulation of TJ function in normal epithelial cells. ..
  34. Badano J, Ansley S, Leitch C, Lewis R, Lupski J, Katsanis N. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet. 2003;72:650-8 pubmed
  35. Liu Q, Pan C, Hishimoto A, Li C, Xi Z, Llorente Berzal A, et al. Species differences in cannabinoid receptor 2 (CNR2 gene): identification of novel human and rodent CB2 isoforms, differential tissue expression and regulation by cannabinoid receptor ligands. Genes Brain Behav. 2009;8:519-30 pubmed publisher
    ..These results provide much improved information about CB2 gene structure and its human and rodent variants that should be considered in developing CB2-R-based therapeutic agents. ..
  36. Li H, Randall W, Du S. skNAC (skeletal Naca), a muscle-specific isoform of Naca (nascent polypeptide-associated complex alpha), is required for myofibril organization. FASEB J. 2009;23:1988-2000 pubmed publisher
    ..Western blot analysis revealed that myosin protein levels were significantly reduced. Collectively, these results demonstrate that skNAC plays a vital role in myofibril assembly and function during muscle cell differentiation. ..
  37. Kargul G, Nagaraja R, Shimada T, Grahovac M, Lim M, Nakashima H, et al. Eleven densely clustered genes, six of them novel, in 176 kb of mouse t-complex DNA. Genome Res. 2000;10:916-23 pubmed
    ..0 kb (on average), the region may qualify as one of the most gene-dense segments in the mouse genome and provides candidates for dosage-sensitive phenotypes and mouse embryonic lethals mapped to the vicinity. ..
  38. Anjaneyulu M, Berent Spillson A, Inoue T, Choi J, Cherian K, Russell J. Transforming growth factor-beta induces cellular injury in experimental diabetic neuropathy. Exp Neurol. 2008;211:469-79 pubmed publisher
    ..In combination, these findings indicate a potential new target for treatment of diabetic peripheral neuropathy. ..
  39. Hong S, Cho H, Moskaluk C, Yu E, Zaika A. p63 and p73 expression in extrahepatic bile duct carcinoma and their clinical significance. J Mol Histol. 2007;38:167-75 pubmed
    ..Our results strongly imply that the p53 family members have different functions in EBD carcinomas. Our data also indicate that interactions between p63 and p73 play an important role in tumorigenesis of EBD carcinoma. ..
  40. Sun L, Vitolo M, Qiao M, Anglin I, Passaniti A. Regulation of TGFbeta1-mediated growth inhibition and apoptosis by RUNX2 isoforms in endothelial cells. Oncogene. 2004;23:4722-34 pubmed
    ..The exon 8 domain of RUNX2 may contribute to the strong repression activity of RUNX2 for some target gene promoters. ..
  41. Vivekanandan P, Micchelli S, Torbenson M. Anterior gradient-2 is overexpressed by fibrolamellar carcinomas. Hum Pathol. 2009;40:293-9 pubmed publisher
    ..In conclusion, anterior gradient-2 is overexpressed in the majority of fibrolamellar carcinomas but is only rarely overexpressed in hepatocellular carcinomas. ..
  42. Saini H, Fernandez G, Kerr D, Levy M. Differential expression of aquaporin-4 isoforms localizes with neuromyelitis optica disease activity. J Neuroimmunol. 2010;221:68-72 pubmed publisher
    ..The ratio of M1:M23 mRNA is highest in the optic nerve and spinal cord, followed by brainstem, then the cerebral and cerebellar cortices. ..
  43. Huang Y, Guerrero Preston R, Ratovitski E. Phospho-?Np63?-dependent regulation of autophagic signaling through transcription and micro-RNA modulation. Cell Cycle. 2012;11:1247-59 pubmed publisher
    ..Our data support the notion that the cisplatin-induced p-?Np63? could regulate key pathways implicated in response of cancer cells to chemotherapeutics. ..
  44. Stricker N, Huganir R. The PDZ domains of mLin-10 regulate its trans-Golgi network targeting and the surface expression of AMPA receptors. Neuropharmacology. 2003;45:837-48 pubmed
    ..A PDZ point mutation enhances surface delivery of exogenous glutamate receptors in transfected neurons, suggesting that mLin-10 may regulate AMPA receptor trafficking in vivo. ..
  45. Brösamle C, Halpern M. Nogo-Nogo receptor signalling in PNS axon outgrowth and pathfinding. Mol Cell Neurosci. 2009;40:401-9 pubmed publisher
    ..We propose that localized Nogo expression defines inhibitory territories that through repulsion restrict axon growth to permissive regions. ..
  46. Hertzano R, Puligilla C, Chan S, Timothy C, Depireux D, Ahmed Z, et al. CD44 is a marker for the outer pillar cells in the early postnatal mouse inner ear. J Assoc Res Otolaryngol. 2010;11:407-18 pubmed publisher
    ..Finally, our study reveals multiple potential new cell type-specific markers in the mouse inner ear and identifies a new marker for outer pillar cells...
  47. Heidinger Pauli J, Unal E, Guacci V, Koshland D. The kleisin subunit of cohesin dictates damage-induced cohesion. Mol Cell. 2008;31:47-56 pubmed publisher
    ..We propose that a DSB in G2/M activates Mec1 (ATR), which in turn stimulates Chk1-dependent phosphorylation of Mcd1 at serine 83. Serine 83 phosphorylation promotes chromatin-bound cohesin to become cohesive. ..
  48. Calcaterra N, Hoeppner D, Wei H, Jaffe A, Maher B, Barrow J. Schizophrenia-Associated hERG channel Kv11.1-3.1 Exhibits a Unique Trafficking Deficit that is Rescued Through Proteasome Inhibition for High Throughput Screening. Sci Rep. 2016;6:19976 pubmed publisher
    ..Utilizing this identified phenomenon, an electrophysiological and high throughput in-vitro fluorescent assay platform has been developed for drug discovery in order to explore a potentially new class of cognitive therapeutics. ..
  49. Mattson M, Ashery U. No more brain tangles with DeltaNp73. Trends Biochem Sci. 2009;34:6-8 pubmed publisher
    ..These findings provide a novel animal model of AD and a potential therapeutic role for DeltaNp73 inducers. ..
  50. de Souza Pinto N, Maynard S, Hashiguchi K, Hu J, Muftuoglu M, Bohr V. The recombination protein RAD52 cooperates with the excision repair protein OGG1 for the repair of oxidative lesions in mammalian cells. Mol Cell Biol. 2009;29:4441-54 pubmed publisher
    ..Our observations suggest a coordinated action between these proteins that may be relevant when oxidative lesions positioned close to strand breaks impose a hindrance to RAD52 catalytic activities. ..
  51. Chung J, Zmora N. Functional studies of crustacean hyperglycemic hormones (CHHs) of the blue crab, Callinectes sapidus - the expression and release of CHH in eyestalk and pericardial organ in response to environmental stress. FEBS J. 2008;275:693-704 pubmed publisher
    ..In contrast, the mRNA transcripts encoding two CHHs were differentially regulated: PO-CHH increased, whereas ES-CHH decreased. This result suggests a possible differential regulation of transcription of these CHHs...
  52. Haga S, Fu S, Karp J, Ross D, Williams D, Hankins W, et al. BP1, a new homeobox gene, is frequently expressed in acute leukemias. Leukemia. 2000;14:1867-75 pubmed
    ..The presence of BP1 RNA in leukemic blasts may therefore be a molecular marker for primitive cells and/or may indicate that BP1 is an important upstream factor in an oncogenic pathway. ..
  53. Ezer S, Bayes M, Elomaa O, Schlessinger D, Kere J. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum Mol Genet. 1999;8:2079-86 pubmed
    ..Our results suggest that ectodysplasin is a new member in the TNF-related ligand family involved in the early epithelial-mesenchymal interaction that regulates ectodermal appendage formation. ..