BAP1

Summary

Gene Symbol: BAP1
Description: BRCA1 associated protein 1
Alias: HUCEP-13, UCHL2, hucep-6, ubiquitin carboxyl-terminal hydrolase BAP1, BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase), cerebral protein 6, cerebral protein-13
Species: human

Top Publications

  1. pmc BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization
    Karen H Ventii
    Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA
    Cancer Res 68:6953-62. 2008
  2. ncbi BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression
    D E Jensen
    The Wistar Institute, Philadelphia, Pennsylvania 19104, USA
    Oncogene 16:1097-112. 1998
  3. doi BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity
    Hiroyuki Nishikawa
    Division of Breast and Endocrine Surgery, Institute of Advanced Medical Science, and Department of Radiology, St Marianna University School of Medicine, Kawasaki, Japan
    Cancer Res 69:111-9. 2009
  4. pmc Association of C-terminal ubiquitin hydrolase BRCA1-associated protein 1 with cell cycle regulator host cell factor 1
    Shahram Misaghi
    Department of Physiological Chemistry, Genentech, Inc, 1 DNA Way, South San Francisco, CA 94080, USA
    Mol Cell Biol 29:2181-92. 2009
  5. pmc The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1
    Yuichi J Machida
    Division of Oncology Research, Mayo College of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Biol Chem 284:34179-88. 2009
  6. pmc Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB
    Johanna C Scheuermann
    European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany
    Nature 465:243-7. 2010
  7. pmc The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY1 and HCF-1 and is a critical regulator of gene expression
    Helen Yu
    University of Montreal, Maisonneuve Rosemont Hospital Research Center, Department of Medicine, Montreal, Quebec, Canada
    Mol Cell Biol 30:5071-85. 2010
  8. pmc Frequent mutation of BAP1 in metastasizing uveal melanomas
    J William Harbour
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Science 330:1410-3. 2010
  9. pmc An emerging model for BAP1's role in regulating cell cycle progression
    Ziad M Eletr
    Department of Biochemistry, Emory University, Atlanta, GA 30322, USA
    Cell Biochem Biophys 60:3-11. 2011
  10. pmc The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma
    Matthew Bott
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA
    Nat Genet 43:668-72. 2011

Research Grants

  1. Pembe Hande Ozdinler; Fiscal Year: 2016
  2. Molecular Epidemiology of Parkinson's Disease
    DEMETRIUS MICHAEL MARAGANORE; Fiscal Year: 2010
  3. Conditional Uch-L1 knockout mice
    Michael Lee; Fiscal Year: 2005
  4. MOLECULAR MECHANISMS OF THE PARKINSON'S DISEASE GENES
    Asa Abeliovich; Fiscal Year: 2007
  5. LINDSAY MARIE LAFAVE; Fiscal Year: 2014
  6. JAMES WILLIAM HARBOUR; Fiscal Year: 2015
  7. Frank J Rauscher; Fiscal Year: 2016
  8. CHELSEA SCHWARTZ PLACE; Fiscal Year: 2014
  9. Ubiquitin-dependent proteolysis: Specificity & Mechanism
    Keith D Wilkinson; Fiscal Year: 2010
  10. Production and characterization of ubiquitin proteins
    KIRSTY LAPAN; Fiscal Year: 2006

Detail Information

Publications205 found, 100 shown here

  1. pmc BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization
    Karen H Ventii
    Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA
    Cancer Res 68:6953-62. 2008
    BRCA1-associated protein-1 (BAP1), a deubiquitinating enzyme of unknown cellular function, is mutated in breast and lung cancers...
  2. ncbi BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression
    D E Jensen
    The Wistar Institute, Philadelphia, Pennsylvania 19104, USA
    Oncogene 16:1097-112. 1998
    We have identified a novel protein, BAP1, which binds to the RING finger domain of the Breast/Ovarian Cancer Susceptibility Gene product, BRCA1...
  3. doi BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity
    Hiroyuki Nishikawa
    Division of Breast and Endocrine Surgery, Institute of Advanced Medical Science, and Department of Radiology, St Marianna University School of Medicine, Kawasaki, Japan
    Cancer Res 69:111-9. 2009
    ..BRCA1-associated protein 1 (BAP1) is a ubiquitin COOH-terminal hydrolase that was initially identified as a protein that bound to the RING finger ..
  4. pmc Association of C-terminal ubiquitin hydrolase BRCA1-associated protein 1 with cell cycle regulator host cell factor 1
    Shahram Misaghi
    Department of Physiological Chemistry, Genentech, Inc, 1 DNA Way, South San Francisco, CA 94080, USA
    Mol Cell Biol 29:2181-92. 2009
    ..BRCA1-associated protein-1 (Bap1) is a ubiquitin carboxy-terminal hydrolase and is frequently mutated in lung and sporadic breast tumors...
  5. pmc The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1
    Yuichi J Machida
    Division of Oncology Research, Mayo College of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Biol Chem 284:34179-88. 2009
    The deubiquitinating enzyme BRCA1-associated protein 1 (BAP1) possesses growth inhibitory activity and functions as a tumor suppressor. In this study we report that BAP1 also plays positive roles in cell proliferation...
  6. pmc Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB
    Johanna C Scheuermann
    European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany
    Nature 465:243-7. 2010
    ..Here we show that the uncharacterized Drosophila PcG gene calypso encodes the ubiquitin carboxy-terminal hydrolase BAP1. Biochemically purified Calypso exists in a complex with the PcG protein ASX, and this complex, named Polycomb ..
  7. pmc The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY1 and HCF-1 and is a critical regulator of gene expression
    Helen Yu
    University of Montreal, Maisonneuve Rosemont Hospital Research Center, Department of Medicine, Montreal, Quebec, Canada
    Mol Cell Biol 30:5071-85. 2010
    The candidate tumor suppressor BAP1 is a deubiquitinating enzyme (DUB) involved in the regulation of cell proliferation, although the molecular mechanisms governing its function remain poorly defined...
  8. pmc Frequent mutation of BAP1 in metastasizing uveal melanomas
    J William Harbour
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Science 330:1410-3. 2010
    ..Inactivating somatic mutations were identified in the gene encoding BRCA1-associated protein 1 (BAP1) on chromosome 3p21...
  9. pmc An emerging model for BAP1's role in regulating cell cycle progression
    Ziad M Eletr
    Department of Biochemistry, Emory University, Atlanta, GA 30322, USA
    Cell Biochem Biophys 60:3-11. 2011
    BRCA1-associated protein-1 (BAP1) is a 729 residue, nuclear-localized deubiquitinating enzyme (DUB) that displays tumor suppressor properties in the BAP1-null NCI-H226 lung carcinoma cell line...
  10. pmc The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma
    Matthew Bott
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA
    Nat Genet 43:668-72. 2011
    ..of 53 MPM tumor samples to guide a focused sequencing effort that uncovered somatic inactivating mutations in BAP1 in 23% of MPMs...
  11. pmc Germline BAP1 mutations predispose to malignant mesothelioma
    Joseph R Testa
    Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA
    Nat Genet 43:1022-5. 2011
    ..We discovered germline mutations in the gene encoding BRCA1 associated protein-1 (BAP1) in two families with a high incidence of mesothelioma, and we observed somatic alterations affecting BAP1 in ..
  12. pmc Germline mutations in BAP1 predispose to melanocytic tumors
    Thomas Wiesner
    Department of Dermatology, Medical University of Graz, Graz, Austria
    Nat Genet 43:1018-21. 2011
    ..Segregating with this phenotype, we found inactivating germline mutations of BAP1, which encodes a ubiquitin carboxy-terminal hydrolase...
  13. pmc Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
    Mohamed H Abdel-Rahman
    Department of Ophthalmology, The Ohio State University, Columbus, Ohio, USA
    J Med Genet 48:856-9. 2011
    To investigate the potential contribution of germline sequence alterations in the BAP1 gene in uveal melanoma (UM) patients with possible predisposition to hereditary cancer.
  14. pmc Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families
    Ching Ni Jenny Njauw
    Wellman Center for Photomedicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America
    PLoS ONE 7:e35295. 2012
    b>BAP1 has been shown to be a target of both somatic alteration in high-risk ocular melanomas (OM) and germline inactivation in a few individuals from cancer-prone families...
  15. pmc BAP1 loss defines a new class of renal cell carcinoma
    Samuel Peña-Llopis
    Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA
    Nat Genet 44:751-9. 2012
    ..accurately determine mutant allele ratios) identified several putative two-hit tumor suppressor genes, including BAP1. The BAP1 protein, a nuclear deubiquitinase, is inactivated in 15% of clear cell RCCs...
  16. pmc BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs
    Michele Carbone
    University of Hawai i Cancer Center, 677 Ala Moana Boulevard, Suite 901, Honolulu, HI 96813, USA
    J Transl Med 10:179. 2012
    BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene located on chromosome 3p21...
  17. doi The ASXL-BAP1 axis: new factors in myelopoiesis, cancer and epigenetics
    O Abdel-Wahab
    Human Oncology and Pathogenesis Program and Leukemia Service, Memorial Sloan Kettering Cancer Center, New York, NY, USA
    Leukemia 27:10-5. 2013
    The recent identification of germline and somatic mutations in BAP1 as well as in multiple members of the ASXL (additional sex combs-like) family of genes has highlighted the role of these proteins in a diverse array of biological ..
  18. pmc BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma
    Katie A Matatall
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St, Louis, Missouri, USA
    BMC Cancer 13:371. 2013
    ..most metastasizing uveal melanomas, which exhibit a class 2 gene expression profile, contain inactivating mutations in the tumor suppressor BAP1. The aim of this study was to investigate the role of BAP1 in uveal melanoma progression.
  19. pmc A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression
    Thomas Wiesner
    Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA
    Am J Surg Pathol 36:818-30. 2012
    We recently reported that germline mutations in BAP1 cause a familial tumor syndrome characterized by high penetrance for melanocytic tumors with distinct clinical and histologic features...
  20. doi Hereditary uveal melanoma: a report of a germline mutation in BAP1
    Veronica Höiom
    Department of Oncology and Pathology, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden
    Genes Chromosomes Cancer 52:378-84. 2013
    ..Exome-wide analysis identified a novel loss-of-function mutation in the BAP1 gene, previously suggested as a tumor suppressor...
  21. pmc Increments in cytokines and matrix metalloproteinases in skeletal muscle after injection of tissue-damaging toxins from the venom of the snake Bothrops asper
    Alexandra Rucavado
    Instituto Clodomiro Picado, Facultad de Microbiologia, Escuela de Medicina, Universidad de Costa Rica, San Jose
    Mediators Inflamm 11:121-8. 2002
    ..of an Asp-49 myotoxic phospholipase A2 (myotoxin III (MT-III)) and a P-I type hemorrhagic metalloproteinase (BaP1) isolated from B. asper venom...
  22. ncbi Characterization of aspercetin, a platelet aggregating component from the venom of the snake Bothrops asper which induces thrombocytopenia and potentiates metalloproteinase-induced hemorrhage
    A Rucavado
    Instituto Clodomiro Picado, Facultad de Mircobiología, Universidad de Costa Rica, San Jose
    Thromb Haemost 85:710-5. 2001
    ..asper hemorrhagic metalloproteinase BaP1 develop a larger hemorrhagic lesion than mice receiving only BaP1...
  23. ncbi Metabolic engineering of a methylmalonyl-CoA mutase-epimerase pathway for complex polyketide biosynthesis in Escherichia coli
    Linda C Dayem
    Kosan Biosciences, Inc, 3832 Bay Center Place, Hayward, California 94545, and Departments of Chemical Engineering, Chemistry, and Biochemistry, Stanford University, Stanford, California 94305
    Biochemistry 41:5193-201. 2002
    ..When the E. coli BAP1 cell line [Pfeifer, B. A., et al. (2001) Science 291, 1790-1792] harboring plasmids that expressed P...
  24. ncbi Membrane independent activation of fibroblast proMMP-2 by snake venom: novel roles for venom proteinases
    Patricia Saravia-Otten
    Microbiology and Tumorbiology Center MTC, Karolinska Institute, Box 280, 171 77 Stockholm, Sweden
    Toxicon 44:749-64. 2004
    ..Venom serine proteinases activated proMMP-2, whereas BaP1, a P-I metalloproteinase, predominantly degraded the latent and active forms of MMP-2...
  25. doi Deficiency of ubiquitin carboxy-terminal hydrolase-L1 (UCH-L1) leads to vulnerability to lipid peroxidation
    Satoshi Nagamine
    Department of Degenerative Neurological Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187 8502, Japan
    Neurochem Int 57:102-10. 2010
    ..These findings will provide clues for elucidating the physiological function of UCH-L1...
  26. doi The potential role of ubiquitin c-terminal hydrolases in oncogenesis
    Ying Fang
    Department of Gastroenterology of Zhongshan Hospital, Fudan University, Shanghai, 200032, PR China
    Biochim Biophys Acta 1806:1-6. 2010
    ..hydrolases (UCHs) subfamily of DUBs consists of four members: UCH-L1, UCH-L3, UCH37 and BRCA1-associated protein-1 (BAP1)...
  27. pmc The rbmBCDEF gene cluster modulates development of rugose colony morphology and biofilm formation in Vibrio cholerae
    Jiunn C N Fong
    Department of Environmental Toxicology, University of California, Santa Cruz, Santa Cruz, CA 95064, USA
    J Bacteriol 189:2319-30. 2007
    ..RbmC and its homolog Bap1 are predicted to encode proteins with carbohydrate-binding domains...
  28. ncbi Differential gene expression of sulindac-treated human breast epithelial cells
    D Roy
    Biology Department, Brookhaven National Laboratory, Upton, NY 11973, USA
    Int J Oncol 27:1727-36. 2005
    ..Altered genes included BRCA1 associated protein-1 [ubiquitin carboxy-terminal hydrolase (bap1)]; cell division cycle 2, G1 to S and G2 to M [cdk1(cdc2)]; and DNA-damage-inducible transcript 1 (gadd45), which ..
  29. ncbi Capillary morphogenesis gene (CMG)-1 is among the genes differentially expressed in mouse male germ line stem cells and embryonic stem cells
    Ryu Suke Fujino
    Stem Cell Project Group, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, Tokyo, Japan
    Mol Reprod Dev 73:955-66. 2006
    ..The upregulated GS genes identified in this study will provide useful information for the future investigation of spermatogonial stem cells and the early phase of male germ cell differentiation...
  30. ncbi The gene for human neurone specific ubiquitin C-terminal hydrolase (UCHL1, PGP9.5) maps to chromosome 4p14
    Y H Edwards
    M R C Human Biochemical Genetics Unit, Galton Laboratory, London
    Ann Hum Genet 55:273-8. 1991
    ..A regional assignment of this locus to 4p14 has been made by in situ hybridization to metaphase chromosomes using both tritium and fluorescently labelled probes...
  31. ncbi Proteomics analysis of hypothalamic response to energy restriction in dairy cows
    Björn Kuhla
    Research Unit Nutritional Physiology Oskar Kellner, Research Institute for the Biology of Farm Animals FBN, Dummerstorf, Germany
    Proteomics 7:3602-17. 2007
    ..These proteins may be new candidate molecules that are potentially involved in signaling for maintaining energy homeostasis...
  32. ncbi Characterization of the testis in congenitally ubiquitin carboxy-terminal hydrolase-1 (Uch-L1) defective (gad) mice
    Jungkee Kwon
    Department of Biomedical Science, Graduate School of Agricultural and Life Sciences, University of Tokyo, 1 1 1 Yayoi, Bunkyo ku, Tokyo 113 8657, Japan
    Exp Anim 52:1-9. 2003
    ..Expression of other UCH isozyme mRNAs was not apparently affected by Uch-L1 deficiency in 25-week-old gad mice. This study is the first report on the testis of gad mutant mouse...
  33. pmc Proteomic identification of dopamine-conjugated proteins from isolated rat brain mitochondria and SH-SY5Y cells
    Victor S Van Laar
    Department of Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA
    Neurobiol Dis 34:487-500. 2009
    ..The susceptibility of the identified proteins to covalent modification by dopamine may carry implications for their role in the vulnerability of dopaminergic neurons in Parkinson's disease pathogenesis...
  34. ncbi Gene expression in diapause-destined embryos of the crustacean, Artemia franciscana
    Zhijun Qiu
    Department of Biology, Dalhousie University, Halifax, NS, Canada B3H 4J1
    Mech Dev 124:856-67. 2007
    ..As examples, p8 may modulate gene expression during diapause in Artemia embryos. BRCA1 associated protein-1 (BAP1) and other functionally related proteins may influence cell growth and division during transition into diapause, a ..
  35. ncbi The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease
    B S Harhangi
    Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands
    Neurosci Lett 270:1-4. 1999
    ..We conclude that the UCH-L1 gene is not a major gene responsible for familial PD...
  36. ncbi No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease
    C Levecque
    INSERM 508, Institut Pasteur de Lille, France
    J Neural Transm (Vienna) 108:979-84. 2001
    ..This observation suggests that the previous positive results obtained may reflect mechanisms restricted to the sporadic form of the disease or to a founder effect of the disease susceptibility...
  37. ncbi [Association of the ubiquitin carboxy-terminal hydrolase-L1 genetic polymorphism with the susceptibility of Parkinson's disease]
    Ying Xiao
    Department of Neurology, the General Hospital of Tianjin Medical University, Tianjin 300052, P R China xxy jun eyou com
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:586-7. 2008
    ..To study the association of two polymorphisms of ubiquitin carboxy-terminal hydrolase-L1 gene(UCH-L1), the 54C/A in exon 3 and the 277C/G in exon 4, with sporadic Parkinson's disease(PD) in Hans from North China...
  38. ncbi UCHL1 is a Parkinson's disease susceptibility gene
    Demetrius M Maraganore
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Ann Neurol 55:512-21. 2004
    ..These findings confirm that UCHL1 is a susceptibility gene for PD and a potential target for disease-modifying therapies...
  39. ncbi Blood flow is required for rapid endothelial cell damage induced by a snake venom hemorrhagic metalloproteinase
    Jose Maria Gutierrez
    Instituto Clodomiro Picado, Facultad de Microbiologia, Universidad de Costa Rica, San Jose, Costa Rica
    Microvasc Res 71:55-63. 2006
    ..Saline solution or the metalloproteinase BaP1, from the venom of Bothrops asper, was injected into the gastrocnemius muscles of mice with normal blood flow ..
  40. doi Identification of proteins differentially expressed by melatonin treatment in cerebral ischemic injury--a proteomics approach
    Jin Hee Sung
    Department of Anatomy, College of Veterinary Medicine and Research Institute of Life Science, Gyeongsang National University, Jinju, South Korea
    J Pineal Res 46:300-6. 2009
    ..Thus, the results of this study suggest that melatonin prevents cell death resulting from ischemic brain injury and that its neuroprotective effects are mediated by both the up- and down-regulation of various proteins...
  41. doi Wound exudate as a proteomic window to reveal different mechanisms of tissue damage by snake venom toxins
    Teresa Escalante
    Instituto Clodomiro Picado, Facultad de Microbiologia, Universidad de Costa Rica, San Jose, Costa Rica
    J Proteome Res 8:5120-31. 2009
    ..analysis on wound exudates from muscular wounds in mice caused by two very different types of snake venom toxins: BaP1, a snake venom metalloproteinase and Mtx-I, a snake venom phospholipase A2...
  42. doi Cerebrospinal fluid ubiquitin C-terminal hydrolase as a novel marker of neuronal damage after epileptic seizure
    Yajun Li
    Department of Neurology, the Affiliated Hospital of Xi an Medical University, No 48, West Fenghao Road, Xi an 710077, Shaanxi Province, China
    Epilepsy Res 103:205-10. 2013
    ..The aim of the present study was to evaluate whether CSF UCH-L1 levels are a reliable marker of brain damage from epileptic seizures...
  43. doi Prognostic significance of BRCA1-associated protein 1 in colorectal cancer
    Jianjun Tang
    State Key Laboratory of Oncology in South China, Sun Yat sen University Cancer Center, No 651, Dongfeng Road East, Guangzhou 510060, China
    Med Oncol 30:541. 2013
    Mutations of BRCA1-associated protein 1 (BAP1), a nuclear-localized deubiquitinating enzyme, had been documented in multiple human cancers. However, its role and clinical relevance in colorectal cancer is unknown...
  44. pmc Sustained resistance to acute MPTP toxicity by hypothalamic dopamine neurons following chronic neurotoxicant exposure is associated with sustained up-regulation of parkin protein
    Matthew Benskey
    Neuroscience Program, Michigan State University, East Lansing, MI 48824, USA
    Neurotoxicology 37:144-53. 2013
    ....
  45. pmc Hereditary kidney cancer syndromes
    Naomi B Haas
    Department of Medicine, Division of Hematology Oncology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA and Department of Medicine, Division of Translational Medicine and Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA
    Adv Chronic Kidney Dis 21:81-90. 2014
    ..with von Hippel Lindau disease, chromosome 3 translocations, PTEN hamartomatous syndrome, and mutations in the BAP1 gene as well as several of the genes encoding the proteins comprising the succinate dehydrogenase complex (SDHB/C/D)..
  46. doi Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma
    Anna E Koopmans
    1 Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands 2 Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands
    Mod Pathol 27:1321-30. 2014
    ..A strong predictor for metastasis is the loss of chromosome 3. Inactivating mutations in BAP1 encoding the BRCA1-associated protein 1 and located on chromosome 3p21...
  47. doi Biallelic germline and somatic mutations in malignant mesothelioma: multiple mutations in transcription regulators including mSWI/SNF genes
    Yoshie Yoshikawa
    Department of Genetics, Hyogo College of Medicine, Nishinomiya, Hyogo, Japan
    Int J Cancer 136:560-71. 2015
    ..exhibited extended germline homozygosity and were in regions containing somatic mutations, leading to a loss of BAP1 and PBRM1 expression in MM cell line. Most protein-damaging variants were heterozygous in normal tissues...
  48. doi Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine
    Masaru Katoh
    Department of Omics Network, National Cancer Center Japan, 5 1 1 Tsukiji Chuo Ward, Tokyo 104 0045, Japan
    Expert Rev Proteomics 12:317-28. 2015
    ASXL1, ASXL2 and ASXL3 are epigenetic scaffolds for BAP1, EZH2, NCOA1, nuclear receptors and WTIP...
  49. pmc Unraveling the Function of the Response Regulator BcSkn7 in the Stress Signaling Network of Botrytis cinerea
    Anne Viefhues
    Institut fuer Biologie und Biotechnologie der Pflanzen, Westfaelische Wilhelms Universitaet Muenster, Muenster, Germany
    Eukaryot Cell 14:636-51. 2015
    ..Here, we show that the transcription factor Bap1 and the response regulator (RR) B...
  50. doi The downregulation of BAP1 expression by BCR-ABL reduces the stability of BRCA1 in chronic myeloid leukemia
    Fatima Dkhissi
    Institut national U935 de la santé et de la recherche médicale, Universite de Poitiers, Poitiers, France Laboratoire Epigénétique et Destin Cellulaire, CNRS UMR 7216 Université Paris Diderot, Sorbonne Paris Cité, Paris, France Laboratoire Signalisation et Transports Ioniques Membranaires, CNRS ERL 7368 Université de Poitiers, Poitiers, France Electronic address
    Exp Hematol 43:775-80. 2015
    ..The protein breast cancer 1, early onset (BRCA1)-associated protein 1 (BAP1) is a deubiquitinase interacting with the DNA repair regulator BRCA1 and is frequently inactivated in many cancers...
  51. doi Umbilical cord blood concentrations of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) and glial fibrillary acidic protein (GFAP) in neonates developing hypoxic-ischemic encephalopathy
    Mehreen Zaigham
    a Department of Obstetrics and Gynecology and
    J Matern Fetal Neonatal Med 29:1822-8. 2016
    ....
  52. pmc Visualization of Sensory Neurons and Their Projections in an Upper Motor Neuron Reporter Line
    Bariş Genç
    Davee Department of Neurology and Clinical Neurological Sciences, Northwestern University, Feinberg School of Medicine, Chicago, IL, United States of America
    PLoS ONE 10:e0132815. 2015
    ....
  53. doi Chronic exposure to low benzo[a]pyrene level causes neurodegenerative disease-like syndromes in zebrafish (Danio rerio)
    Dongxu Gao
    State Key Laboratory of Cellular Stress Biology, School of Life Sciences, Xiamen University, Xiamen, Fujian 361005, China
    Aquat Toxicol 167:200-8. 2015
    ..This study provides clues that BaP may constitute an important environmental risk factor for neurodegenerative diseases in humans. ..
  54. pmc Hereditary melanoma: Update on syndromes and management: Emerging melanoma cancer complexes and genetic counseling
    Efthymia Soura
    1st Department of Dermatology, University Clinic, Andreas Sygros Hospital, Athens, Greece
    J Am Acad Dermatol 74:411-20; quiz 421-2. 2016
    ..In addition to CDKN2A and CDK4, germline variants in TERT, MITF, and BAP1 have been added to the list of genes harboring melanoma-predisposing mutations...
  55. doi [BRCA1 associated protein 1 (BAP1) expression in pleural diffuse malignant mesothelioma: A comparative cytological and histological analyses on 50 patients]
    Alexandre Jaouën
    Service de pathologie et de neuropathologie Est, centre de biologie et de pathologie Est CBPE, 59, boulevard Pinel, 69577 Bron cedex, France
    Ann Pathol 36:111-9. 2016
    ..The diagnosis is difficult and needs an antibody panel. The tumor suppressor gene BRCA1 associated protein 1 (BAP1) is involved in several cancers, including MMD...
  56. doi NeuCode Proteomics Reveals Bap1 Regulation of Metabolism
    Joshua M Baughman
    Department of Protein Chemistry, Genentech, 1 DNA Way, South San Francisco, CA 94080, USA
    Cell Rep 16:583-95. 2016
    ..Using NeuCode, we characterize an inducible knockout mouse model of Bap1, a tumor suppressor and deubiquitinase whose in vivo roles outside of cancer are not well established...
  57. pmc Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease
    S J Lubbe
    Department of Clinical Neuroscience, UCL Institute of Neurology, London, United Kingdom
    Neurobiol Aging 48:222.e1-222.e7. 2016
    ..frequencies between PD cases and controls, under different inheritance models, in the following CMM risk genes: BAP1, DCC, ERBB4, KIT, MAPK2, MITF, PTEN, and TP53. The very rare TYR p...
  58. ncbi Molecular cloning, sequence and structure analysis of hamster apurinic/apyrimidinic endonuclease (chAPE1) gene
    S Purohit
    Department of Biology, University of Texas at El Paso, El Paso, TX 79902, USA
    Mutat Res 435:215-24. 1999
    ..The structure of the chAPE1 gene is similar to other mammalian apurinic/apyrimidinic (AP) endonuclease (hAPE1, BAP1, rAPEN and mAPE1) genes in that it has five exons and four introns with the first exon unexpressed...
  59. ncbi Parkinson's genetics--creating exciting new insights
    D A Grimes
    Parkinson s Disease and Movement disorders Clinic, The Ottawa Hospital, Civic Campus, 1053 Carling Ave, K1Y 4E9, Ottawa, Ont, Canada
    Parkinsonism Relat Disord 8:459-64. 2002
    ..As additional Parkinson's disease loci are mapped and their genes identified we will continue to add to our understating of the critical biochemical pathways involved and be able to develop effective disease altering treatments...
  60. pmc Role of ubiquitin carboxy terminal hydrolase-L1 in neural cell apoptosis induced by ischemic retinal injury in vivo
    Takayuki Harada
    Department of Degenerative Neurological Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Am J Pathol 164:59-64. 2004
    ..These results demonstrate that UCH-L1 is involved in ubiquitin expression after stress stimuli, but excessive ubiquitin induction following ischemic injury may rather lead to neural cell apoptosis in vivo...
  61. doi Case-control study of the UCH-L1 S18Y variant in sporadic Parkinson's disease in the Chinese population
    Lei Wang
    Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan 410008, China
    J Clin Neurosci 18:541-4. 2011
    ....
  62. doi Frequent inactivation of the BAP1 gene in epithelioid-type malignant mesothelioma
    Yoshie Yoshikawa
    Department of Genetics, Hyogo College of Medicine, Hyogo, Japan
    Cancer Sci 103:868-74. 2012
    In the present study, we analyzed genomic alterations of BRCA1-associated protein 1 (BAP1) in 23 malignant mesotheliomas (MMs), 16 epithelioid and seven non-epithelioid, consisting of 18 clinical specimens and five established cell lines...
  63. doi Recent advances in cutaneous melanoma: towards a molecular model and targeted treatment
    Jazlyn Read
    Wesley Clinical School, The Wesley Hospital, Brisbane, Queensland, Australia
    Australas J Dermatol 54:163-72. 2013
    ..with familial melanoma have added a further dimension to the molecular underpinnings of melanoma, implicating BAP1 and MITF as melanoma predisposition genes...
  64. doi Autodeubiquitination protects the tumor suppressor BAP1 from cytoplasmic sequestration mediated by the atypical ubiquitin ligase UBE2O
    Nazar Mashtalir
    Maisonneuve Rosemont Hospital Research Center, Department of Medicine, University of Montreal, Montreal, QC H1T 2M4, Canada
    Mol Cell 54:392-406. 2014
    The tumor suppressor BAP1 interacts with chromatin-associated proteins and regulates cell proliferation, but its mechanism of action and regulation remain poorly defined...
  65. doi Lactoferrin up-regulates intestinal gene expression of brain-derived neurotrophic factors BDNF, UCHL1 and alkaline phosphatase activity to alleviate early weaning diarrhea in postnatal piglets
    Changwei Yang
    School of Medicine, Xiamen University, Xiamen, 361102, China
    J Nutr Biochem 25:834-42. 2014
    ..The molecular basis underlying these findings suggests that Lf may enhance gut development and immune function by providing new insight into the gut-brain-microbe axis that has not been previously reported. ..
  66. doi Whole-exome sequencing reveals frequent genetic alterations in BAP1, NF2, CDKN2A, and CUL1 in malignant pleural mesothelioma
    Guangwu Guo
    Broad Institute of Harvard and MIT, Cambridge, Massachusetts Department of Medical Oncology and Center for Cancer Genome Discovery, Dana Farber Cancer Institute, Boston, Massachusetts
    Cancer Res 75:264-9. 2015
    ..Integrative analysis of mutations and somatic copy-number alterations revealed frequent genetic alterations in BAP1, NF2, CDKN2A, and CUL1. Our study presents the first unbiased view of the genomic basis of MPM.
  67. pmc Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution
    Michal Kovac
    1 Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, Nuffield Department of Clinical Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK 2 Department of Biomedicine, Research Group Human Genomics, University of Basel, Mattenstrasse 28, 4058 Basel, Switzerland
    Nat Commun 6:6336. 2015
    ..We identify BAP1, SETD2, ARID2 and Nrf2 pathway genes (KEAP1, NHE2L2 and CUL3) as probable drivers, together with at least eight ..
  68. pmc Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition
    Karin A W Wadt
    Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark
    PLoS ONE 10:e0122662. 2015
    ..We performed genetic analysis of CDKN2A, CDK4, BAP1, MC1R, and MITFp.E318K in Danish high-risk melanoma cases and found CDKN2A germline mutations in 11...
  69. ncbi Proteomic identification of oxidatively modified proteins in Alzheimer's disease brain. Part I: creatine kinase BB, glutamine synthase, and ubiquitin carboxy-terminal hydrolase L-1
    Alessandra Castegna
    Department of Chemistry, Center of Membrane Sciences, University of Kentucky, Lexington 40506 0055, USA
    Free Radic Biol Med 33:562-71. 2002
    ..Proteomics offers a rapid means of identifying oxidatively modified proteins in aging and age-related neurodegenerative disorders without the limitations of the immunochemical detection method...
  70. ncbi Expression of ubiquitin-related enzymes in the suprachiasmatic nucleus with special reference to ubiquitin carboxy-terminal hydrolase UchL1
    Xin Dong
    Department of Brain Sciences, Kobe University Graduate School of Medicine, 7 5 1 Kusunokicho, Chuo Ku, Kobe 650 0017, Japan
    Biomed Res 26:43-9. 2005
    ..Although strongly expressed in the SCN, UchL1 mRNA did not show the rhythm in the SCN in both light-dark and constant dark conditions...
  71. ncbi Age-dependent changes in bovine skeletal muscle transcriptomic profile
    T Sadkowski
    Department of Physiological Sciences, Faculty of Veterinary Medicine, Warsaw Agricultural University, Poland
    J Physiol Pharmacol 57:95-110. 2006
    ....
  72. pmc Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy
    Marta Barrachina
    Institut de Neuropatologia, Servei Anatomia Patològica, IDIBELL Hospital Universitari de Bellvitge, carrer Feixa Llarga sn, 08907 L Hospitalet de Llobregat, Spain
    Am J Pathol 171:1312-23. 2007
    ....
  73. doi Improved E. coli erythromycin A production through the application of metabolic and bioprocess engineering
    Haoran Zhang
    Department of Chemical and Biological Engineering, Tufts University, Medford, MA 02155, USA
    Biotechnol Prog 28:292-6. 2012
    ..The original strain, termed BAP1(pBPJW130, pBPJW144, pHZT1, pHZT2, pHZT4, pGro7), was designed to allow full erythromycin A biosynthesis from the ..
  74. doi LC-MS/MS quantification of short-chain acyl-CoA's in Escherichia coli demonstrates versatile propionyl-CoA synthetase substrate specificity
    J W Armando
    Department of Chemical and Biological Engineering, Tufts University, Medford, MA, USA
    Lett Appl Microbiol 54:140-8. 2012
    ..To further compare and potentially expand the levels of available acyl-CoA molecules, a propionyl-CoA synthetase gene from Ralstonia solanacearum (prpE-RS) was synthesized and expressed in the engineered strain BAP1.
  75. pmc Glial neuronal ratio: a novel index for differentiating injury type in patients with severe traumatic brain injury
    Stefania Mondello
    Department of Anesthesiology, University of Florida, Gainesville, Florida 32615, USA
    J Neurotrauma 29:1096-104. 2012
    ..In addition, GNR may help to identify different pathophysiological mechanisms following different types of brain trauma, with implications for therapeutic interventions...
  76. pmc Loss of the tumor suppressor BAP1 causes myeloid transformation
    Anwesha Dey
    Department of Physiological Chemistry, Genentech, 1 DNA Way, South San Francisco, CA 94080, USA
    Science 337:1541-6. 2012
    De-ubiquitinating enzyme BAP1 is mutated in a hereditary cancer syndrome with increased risk of mesothelioma and uveal melanoma. Somatic BAP1 mutations occur in various malignancies...
  77. doi [Uveal melanoma: current insights into clinical relevance of genetic testing]
    C H Metz
    Klinik fur Augenheilkunde, Universitatsklinikum Essen, Universitat Duisburg Essen, Hufelandstrasse 55, Essen
    Klin Monbl Augenheilkd 230:686-91. 2013
    ..Recently, major key genes involved in uveal melanoma development, GNAQ, GNA11, BAP1, SF3B1 and EIF1AX, have been identified...
  78. doi BAP1 protein is a progression factor in malignant pleural mesothelioma
    Lisa Arzt
    Institute of Pathology, Research Unit for Molecular Lung and Pleura Pathology, Medical University of Graz, Auenbruggerplatz 25, 8036, Graz, Austria
    Pathol Oncol Res 20:145-51. 2014
    ..BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene that is frequently lost in MPM...
  79. pmc Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases
    Robert Pilarski
    Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio
    Genes Chromosomes Cancer 53:177-82. 2014
    The clinical phenotype of BAP1 hereditary cancer predisposition syndrome (MIM 614327) includes uveal melanoma (UM), cutaneous melanoma (CM), renal cell carcinoma (RCC), and mesothelioma...
  80. doi BAP1 protein loss by immunohistochemistry: a potentially useful tool for prognostic prediction in patients with uveal melanoma
    Akeesha A Shah
    Department of Pathology, University of Virginia School of Medicine, Charlottesville VA Department of Pathology Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, United States
    Pathology 45:651-6. 2013
    ..Recently, biallelic inactivation of the BAP1 gene was shown to be associated with increased risk of metastasis in patients with uveal melanoma...
  81. doi 17. Peritoneal epithelioid mesothelioma in a patient with metastatic melanoma - an association seen in bap1 mutations
    Annalisa Gatt
    Department of Anatomic Pathology, and Melanoma Institute Australia, Royal Prince Alfred Hospital, Sydney, NSW, Australia
    Pathology 46:S112. 2014
    ..amongst others has been described following germline or sporadic inactivation of BRCA1-associated protein (BAP1). Inactivation of BAP1 can be detected immunohistochemically...
  82. pmc Multigene mutational profiling of cholangiocarcinomas identifies actionable molecular subgroups
    Michele Simbolo
    ARC NET Research Centre, University and Hospital Trust of Verona, Verona, Italy
    Oncotarget 5:2839-52. 2014
    ..The genes most frequently involved were KRAS (28%), TP53 (18%), ARID1A (12%), IDH1/2 (9%), PBRM1 (9%), BAP1 (7%), and PIK3CA (7%). IDH1/2 (p=0.0005) and BAP1 (p=0.0097) mutations were characteristic of ICC, while KRAS (p=0...
  83. doi Germline mutations in BAP1 impair its function in DNA double-strand break repair
    Ismail Hassan Ismail
    Department of Oncology, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada Biophysics Department, Faculty of Science, Cairo University, Giza, Egypt
    Cancer Res 74:4282-94. 2014
    The BRCA1-associated deubiquitylase BAP1 is mutated in several cancers, most notably mesothelioma and melanoma, where it is thought to promote oncogenesis...
  84. doi MicroRNA-922 promotes tau phosphorylation by downregulating ubiquitin carboxy-terminal hydrolase L1 (UCHL1) expression in the pathogenesis of Alzheimer's disease
    Z B Zhao
    Department of Neurology and Institute of Neurology, Rui Jin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, PR China
    Neuroscience 275:232-7. 2014
    ..Our study partly explained one of the mechanisms underlying the downregulation of UCHL1 levels in AD patients and could enrich the content of tau pathology in the pathogenesis of AD. ..
  85. doi Establishment of novel cell lines recapitulating the genetic landscape of uveal melanoma and preclinical validation of mTOR as a therapeutic target
    Nabil Amirouchene-Angelozzi
    Biophenics Laboratory, Translational Research Department, Institut Curie, 26 Rue d Ulm, 75005 Paris, France Electronic address
    Mol Oncol 8:1508-20. 2014
    ..All the cell lines display GNAQ or GNA11 activating mutations, and importantly four of them display BAP1 (BRCA1 associated protein-1) deficiency, a hallmark of aggressive disease...
  86. pmc Prognostic parameters in uveal melanoma and their association with BAP1 expression
    T Huibertus van Essen
    Department of Ophthalmology, Leiden University Medical Center LUMC, Leiden, The Netherlands
    Br J Ophthalmol 98:1738-43. 2014
    To determine whether BAP1 gene and protein expression associates with different prognostic parameters in uveal melanoma and whether BAP1 expression correctly identifies patients as being at risk for metastases, following enucleation of ..
  87. doi Malignant Peritoneal Mesothelioma in an Adolescent Male With BAP1 Deletion
    Steve Taylor
    Departments of Pathology and Laboratory Medicine Hematology and Oncology Surgery Radiology, Phoenix Children s Hospital, Phoenix, AZ
    J Pediatr Hematol Oncol 37:e323-7. 2015
    ..3, CK 20, CD10, CD30, CD15, CD117, PLAP, S100, TFE3, and EMA) confirmed the diagnosis. Of special interest, BAP1 staining was cytoplasmic and consistent with 3p deletion detected by conventional cytogenetics...
  88. pmc Mesothelioma patients with germline BAP1 mutations have 7-fold improved long-term survival
    Francine Baumann
    University of Hawaii Cancer Center, Honolulu, HI 96813, USA
    Carcinogenesis 36:76-81. 2015
    BRCA1-associated protein-1 (BAP1) mutations cause a new cancer syndrome, with a high rate of malignant mesothelioma (MM)...
  89. pmc Loss of PBRM1 and BAP1 expression is less common in non-clear cell renal cell carcinoma than in clear cell renal cell carcinoma
    Thai H Ho
    Division of Hematology and Medical Oncology, Mayo Clinic, Scottsdale, AZ Epigenomics Program, Center for Individualized Medicine, Mayo Clinic, Rochester, MN Electronic address
    Urol Oncol 33:23.e9-14. 2015
    Recurrent mutations in polybromo-1 (PBRM1, ~40%) and BRCA1-associated protein-1 (BAP1, ~10%) occur in clear cell renal cell carcinoma (ccRCC), but their prevalence in non-ccRCC or renal oncocytoma (RO) is unknown...
  90. pmc BAP1 has a survival role in cutaneous melanoma
    Raj Kumar
    Department of Dermatology, Wellman Center for Photomedicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
    J Invest Dermatol 135:1089-97. 2015
    Although the pattern of BAP1 inactivation in ocular melanoma specimens and in the BAP1 cutaneous melanoma (CM)/ocular melanoma predisposition syndrome suggests a tumor suppressor function, the specific role of this gene in the ..
  91. doi Malignant pleural mesothelioma: history, controversy and future of a manmade epidemic
    Oluf Dimitri Røe
    Dept of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology NTNU, Trondheim, Norway Cancer Clinic, Levanger Hospital, Nord Trøndelag Health Trust, Levanger, Norway Dept of Oncology, Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark
    Eur Respir Rev 24:115-31. 2015
    ..discoveries of clinically promising noninvasive biomarkers, such as the 13-protein signature, microRNAs and the BAP1 mesothelioma/cancer syndrome, are highlighted...
  92. doi Molecular detection of genes related to biofilm formation in multidrug-resistant Acinetobacter baumannii isolated from clinical settings
    Farzad Badmasti
    Department of Bacteriology, Pasteur Institute of Iran, Tehran, Iran
    J Med Microbiol 64:559-64. 2015
    ..Polyclonal antibodies against recombinant AbOmpA8-346 and Bap1-487 proteins were obtained by the mouse immunization method...
  93. doi Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma
    Mariam Jafri
    Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom Department of Oncology, University Hospital Birmingham Foundation Trust, Birmingham, United Kingdom
    Cancer Discov 5:723-9. 2015
    ..heterogeneous and may be caused by mutations in multiple genes, including VHL, MET, SDHB, FH, FLCN, PTEN, and BAP1. However, most individuals with inherited RCC do not have a detectable germline mutation...
  94. doi Proteomic analysis of fetal programming-related obesity markers
    Ji Hye Lee
    Department of Obstetrics and Gynecology, Ewha Womans University, Seoul, South Korea
    Proteomics 15:2669-77. 2015
    ..These findings suggest that UCHL1 and SCRN1 may be used as fetal programming-related obesity markers. ..
  95. doi Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations
    Mrinali P Gupta
    Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston2Department of Ophthalmology, Weill Cornell Medical College, New York, New York
    JAMA Ophthalmol 133:881-7. 2015
    Somatic mutations in BAP1 (BRCA1-associated protein 1 gene) are frequently identified in uveal melanoma. To date, the role of germline BAP1 mutations in uveal melanoma has not been characterized.
  96. doi BAP1 (BRCA1-associated protein 1) is a highly specific marker for differentiating mesothelioma from reactive mesothelial proliferations
    Marta Cigognetti
    Department of Molecular and Translational Medicine, Section of Pathology, University of Brescia, Spedali Civili, Brescia, Italy
    Mod Pathol 28:1043-57. 2015
    ..Recently, variants of the BRCA1-associated protein 1 (BAP1) gene resulting in nuclear protein loss were reported in hereditary and sporadic mesothelioma...
  97. doi BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma: molecular diagnostics and possible targets for personalized therapies
    Francesco Piva
    a 1 Department of Specialistic Clinical and Odontostomatological Sciences, Polytechnic University of Marche, Ancona, Italy
    Expert Rev Mol Diagn 15:1201-10. 2015
    ..These mutations cause loss of function of several genes located in close proximity to VHL and include PBRM1, BAP1 and SETD2...
  98. doi Spontaneous cellular and humoral tumor antigen responses in patients with uveal melanoma
    Pierre L Triozzi
    aTaussig Cancer Institute bCole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Melanoma Res 25:510-8. 2015
    ..Cellular and humoral responses to melanoma differentiation antigens, as well as to BRCA1-associated protein 1 (BAP1) and α-enolase, alterations of which are associated with metastatic disease, were examined in patients with uveal ..
  99. pmc Gender-Specific Molecular and Clinical Features Underlie Malignant Pleural Mesothelioma
    Assunta De Rienzo
    The Thoracic Surgery Oncology laboratory and the International Mesothelioma Program, Division of Thoracic Surgery and the Lung Center, Brigham and Women s Hospital, and Harvard Medical School, Boston, Massachusetts
    Cancer Res 76:319-28. 2016
    ..Specifically, single-nucleotide variants of BAP1 were observed in 21% of cases, with lower mutation rates observed in sarcomatoid MPM (P < 0.001)...

Research Grants20

  1. Pembe Hande Ozdinler; Fiscal Year: 2016
    ..This proposal will bring a mechanistic insight into upper motor neuron degeneration and will reveal the role of UCHL1, and more broadly the function of improper UPS on the health and stability of upper motor neurons. ..
  2. Molecular Epidemiology of Parkinson's Disease
    DEMETRIUS MICHAEL MARAGANORE; Fiscal Year: 2010
    ..They will also accelerate the development of new treatments, reduce research and development costs, and identify subgroups of patients most likely to benefit. ..
  3. Conditional Uch-L1 knockout mice
    Michael Lee; Fiscal Year: 2005
    ..The IoxP-targeted Uch1 mice will be mated to pTH-Cre transgenic mice to silence Uch-L1 expression only in the dopaminergic and noradrenergic neurons. ..
  4. MOLECULAR MECHANISMS OF THE PARKINSON'S DISEASE GENES
    Asa Abeliovich; Fiscal Year: 2007
    ..Of particular interest are potential relationships among these molecules. I propose to combine complementary biochemical, cellular, and genetic approaches to this end. ..
  5. LINDSAY MARIE LAFAVE; Fiscal Year: 2014
    DESCRIPTION (provided by applicant): This project aims to characterize the role of BRCA1 associated protein-1 (BAP1) in normal and malignant hematopoiesis...
  6. JAMES WILLIAM HARBOUR; Fiscal Year: 2015
    ..to apply the recently described technique of exome capture followed by massively parallel sequencing to identify BAP1 as the metastasis suppressor mapping to chromosome 3 in UM...
  7. Frank J Rauscher; Fiscal Year: 2016
    ..In late November of 2010, Harbour et al. reported that the tumor suppressor gene, BAP1 is mutated in 84% of Class 1 metastatic tumors...
  8. CHELSEA SCHWARTZ PLACE; Fiscal Year: 2014
    ..genes include the heterotrimeric G protein alpha subunits GNAQ and GNA11, in addition to the tumor suppressor BAP1. Mutations in GNAQ/11 lead to downstream activation of the MAP kinase pathway, which signals through RAF, MEK, and ..
  9. Ubiquitin-dependent proteolysis: Specificity & Mechanism
    Keith D Wilkinson; Fiscal Year: 2010
    ..by direct recognition (USP5/isopeptidase T, Aim 1) or by adapter-assisted recognition of specific substrates (BAP1, Aim 2)...
  10. Production and characterization of ubiquitin proteins
    KIRSTY LAPAN; Fiscal Year: 2006
    ..be tested for hydrolysis against a battery of deubiquitinating enzymes, including Isopeptidase T, UCH-L1, UCH-L3, BAP1, and USP14, to characterize these hydrolytic specificities of these enzymes...
  11. CHARACTERIZATION OF TWO NOVEL BCL-2-ASSCOCIATED PROTEINS
    Daniel Johnson; Fiscal Year: 1999
    ..In preliminary studies, we have cloned two cDNAs which code for novel proteins, BAP1 and BAP2, that bind to Bcl-2 in vitro...
  12. Structural and Functional Characterization of BRCA1
    Rachel Klevit; Fiscal Year: 2007
    ..3) characterize the interaction between the N-terminal region of BRCA1 and two of its binding partners, BAP1, a ubiquitin hydrolase, and the estrogen receptor, ER-alpha, and 4) characterize protein complexes involving the C-..
  13. Role of the BRCA1 Associated Protein BAP1 in DNA Repair
    Frank Rauscher; Fiscal Year: 2005
    We have previously discovered the BRCA1-associated Protein-1 (BAP1) which was cloned in a screen for proteins which bind to the RING finger domain of BRCA1 BAP1 is a nuclear-localized, ubiquitin carboxyl- terminal hydrolase, suggesting ..
  14. HTS for Inhibitors of BAP1,BRCA:Deubiquinating(RMI)
    KEITH WILKINSON; Fiscal Year: 2005
    ..research and attempts to elucidate its biochemical function have included identifying its protein partners, such as BAP1. BAP1 is a member of the UCH family of deubiquitinating enzymes (DUB)...
  15. Control of Eye Melanoma Metastsis
    Hans E Grossniklaus; Fiscal Year: 2010
    ..The third aim determines the mechanism of combined angiostatin/IFN control of the micrometastases using methods in the first two aims. ..
  16. SUBMACULAR SURGERY TRIALS PATHOLOGY CENTER
    Hans Grossniklaus; Fiscal Year: 2003
    ..Additionally, eyes obtained post-mortem from patients enrolled in the SST will be studied for pathologic correlation with clinical findings and outcomes. ..
  17. Control of Eye Melanoma Metastasis
    Hans Grossniklaus; Fiscal Year: 2003
    ..Both the IFN and angiostatin will prevent the progression of micrometastases into metastases by anti-angiogenesis. Angiostatin will prevent metastases by an anti-melanoma invasion effect. ..
  18. Phase Ib trial of TD101 siRNA for pachyonychia congenita (IND 77,504, 12-03-07)
    Sancy Leachman; Fiscal Year: 2009
    ....
  19. THE ROLE OF RB IN THE RETINA & OTHER TISSUES
    JAMES HARBOUR; Fiscal Year: 2009
    ..Consequently, these aims are highly relevant to the vision statement of the NEI, and they address several major program goals and objectives of the Retinal Diseases Program. ..