SDHD

Summary

Gene Symbol: SDHD
Description: succinate dehydrogenase complex, subunit D, integral membrane protein
Alias: CBT1, CII-4, CWS3, PGL, PGL1, QPs3, SDH4, cybS, succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial, succinate-ubiquinone oxidoreductase cytochrome b small subunit, succinate-ubiquinone reductase membrane anchor subunit
Species: human

Top Publications

  1. pmc SDHA is a tumor suppressor gene causing paraganglioma
    Nelly Burnichon
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, 20 40 rue Leblanc, F 75015 Paris, France
    Hum Mol Genet 19:3011-20. 2010
  2. ncbi High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations
    Jorge Lima
    Institute of Molecular Pathology and Immunology of University of Porto, University of Porto, 4200 465 Porto, Portugal
    J Clin Endocrinol Metab 92:4853-64. 2007
  3. ncbi Superiority of fluorodeoxyglucose positron emission tomography to other functional imaging techniques in the evaluation of metastatic SDHB-associated pheochromocytoma and paraganglioma
    Henri J L M Timmers
    Reproductive Biology and Medicine Branch, National Institutes of Child Health and Human Development, Bethesda MD 20892 1109, USA
    J Clin Oncol 25:2262-9. 2007
  4. ncbi New advances in the genetics of pheochromocytoma and paraganglioma syndromes
    Anne Paule Gimenez-Roqueplo
    Département de génétique, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, and Université de Paris, Faculte de Medecine, INSERM U772, College de France, France
    Ann N Y Acad Sci 1073:112-21. 2006
  5. pmc Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
    Jean Pierre Bayley
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Med Genet 7:1. 2006
  6. ncbi Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
    B E Baysal
    Department of Psychiatry, The University of Pittsburgh Medical Center, Pittsburgh, PA 15213 2593, USA
    Science 287:848-51. 2000
  7. doi Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma
    Goswin Y Meyer-Rochow
    Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, Australia
    J Surg Res 157:55-62. 2009
  8. doi Genetics of pheochromocytoma and paraganglioma in Spanish patients
    Alberto Cascon
    Hereditary Endocrine Cancer Group, Institute de Salud Carlos III Center for Biomedical Research on Rare Diseases, Madrid, Spain
    J Clin Endocrinol Metab 94:1701-5. 2009
  9. doi Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas
    Massimo Mannelli
    Department Clinical Pathophysiology, University of Florence, Viale Pieraccini 5, 50139 Florence, Italy
    J Clin Endocrinol Metab 94:1541-7. 2009
  10. doi The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression
    Francesca Schiavi
    Department of Medicine, University of Padova, Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, Instituto di Ricovero e Cura a Carattere Scientifico, Via Gattamelata 64, 35128 Padova, Italy
    J Clin Endocrinol Metab 97:E637-41. 2012

Research Grants

Detail Information

Publications183 found, 100 shown here

  1. pmc SDHA is a tumor suppressor gene causing paraganglioma
    Nelly Burnichon
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, 20 40 rue Leblanc, F 75015 Paris, France
    Hum Mol Genet 19:3011-20. 2010
    Mitochondrial succinate-coenzyme Q reductase (complex II) consists of four subunits, SDHA, SDHB, SDHC and SDHD. Heterozygous germline mutations in SDHB, SDHC, SDHD and SDHAF2 [encoding for succinate dehydrogenase (SDH) complex assembly ..
  2. ncbi High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations
    Jorge Lima
    Institute of Molecular Pathology and Immunology of University of Porto, University of Porto, 4200 465 Porto, Portugal
    J Clin Endocrinol Metab 92:4853-64. 2007
    Germline SDHB, SDHC, and/or SDHD mutations have been reported in familial and apparently sporadic paragangliomas (PGLs)...
  3. ncbi Superiority of fluorodeoxyglucose positron emission tomography to other functional imaging techniques in the evaluation of metastatic SDHB-associated pheochromocytoma and paraganglioma
    Henri J L M Timmers
    Reproductive Biology and Medicine Branch, National Institutes of Child Health and Human Development, Bethesda MD 20892 1109, USA
    J Clin Oncol 25:2262-9. 2007
    ..subunit B of the mitochondrial enzyme succinate dehydrogenase (SDHB) predispose to malignant paraganglioma (PGL). Timely and accurate localization of these aggressive tumors is critical for guiding optimal treatment...
  4. ncbi New advances in the genetics of pheochromocytoma and paraganglioma syndromes
    Anne Paule Gimenez-Roqueplo
    Département de génétique, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, and Université de Paris, Faculte de Medecine, INSERM U772, College de France, France
    Ann N Y Acad Sci 1073:112-21. 2006
    ..of the SDH genes in 2000/2001 dramatically changed the genetics of pheochromocytoma (PHEO) and paraganglioma (PGL)...
  5. pmc Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
    Jean Pierre Bayley
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Med Genet 7:1. 2006
    Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic tumor ..
  6. ncbi Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
    B E Baysal
    Department of Psychiatry, The University of Pittsburgh Medical Center, Pittsburgh, PA 15213 2593, USA
    Science 287:848-51. 2000
    ..a mitochondrial respiratory chain protein-the small subunit of cytochrome b in succinate-ubiquinone oxidoreductase (cybS)...
  7. doi Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma
    Goswin Y Meyer-Rochow
    Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, Australia
    J Surg Res 157:55-62. 2009
    ..Type 1, and the pheochromocytoma/paraganglioma syndromes caused by mutations in the RET, VHL, NF1, SDHB, and SDHD genes, respectively...
  8. doi Genetics of pheochromocytoma and paraganglioma in Spanish patients
    Alberto Cascon
    Hereditary Endocrine Cancer Group, Institute de Salud Carlos III Center for Biomedical Research on Rare Diseases, Madrid, Spain
    J Clin Endocrinol Metab 94:1701-5. 2009
    ..In these cases, other clinical aspects like bilaterality, multiplicity, location of the tumors, or age at onset can help to recognize the underlying genes involved...
  9. doi Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas
    Massimo Mannelli
    Department Clinical Pathophysiology, University of Florence, Viale Pieraccini 5, 50139 Florence, Italy
    J Clin Endocrinol Metab 94:1541-7. 2009
    ..The aim of the study was to define the frequency of hereditary forms and the genotype/phenotype correlations in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas...
  10. doi The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression
    Francesca Schiavi
    Department of Medicine, University of Padova, Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, Instituto di Ricovero e Cura a Carattere Scientifico, Via Gattamelata 64, 35128 Padova, Italy
    J Clin Endocrinol Metab 97:E637-41. 2012
    Anecdotal evidence suggests a high incidence in Trentino, Italy, of head and neck paragangliomas (HNPGL), a rare autosomal dominant disease called paraganglioma type 1 syndrome and caused by germ-line mutations of the SDHD gene.
  11. ncbi No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma
    M Montani
    Institute for Clinical Pathology, Department of Pathology, University Hospital Zurich, Switzerland
    Endocr Relat Cancer 12:1011-6. 2005
    Germline mutations of the three succinate dehydrogenase subunits SDHB, SDHC and SDHD have recently been associated with familial pheochromocytoma and paraganglioma...
  12. doi Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas
    Jens Waldmann
    Department of Surgery, University Hospital Giessen and Marburg, Baldingerstrasse, Marburg 35037, Germany
    Endocrine 35:347-55. 2009
    The prevalence of germ line mutations within the RET-protooncogene and the tumor suppressor genes SDHB, SDHD, and VHL in pheochromocytomas (PC) varies in recent studies from 12 to 24%, if one look at them collectively...
  13. ncbi Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma
    Alberto Cascon
    Hereditary Endocrine Cancer Group, Department of Human Genetics, Centro Nacional de Investigaciones Oncologicas, Melchor Fernandez Almagro 3, E 28029 Madrid, Spain
    J Clin Endocrinol Metab 90:2127-30. 2005
    ..First, we studied SDHD in two families with hereditary non-RET CCH and found no alterations related to the inheritance of this disease...
  14. ncbi Genetic testing in pheochromocytoma or functional paraganglioma
    Laurence Amar
    Universite Paris Descartes, Faculte de Medecine, France
    J Clin Oncol 23:8812-8. 2005
    To assess the yield and the clinical value of systematic screening of susceptibility genes for patients with pheochromocytoma (pheo) or functional paraganglioma (pgl).
  15. ncbi Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene
    P E Taschner
    Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Genes Chromosomes Cancer 31:274-81. 2001
    ..Recently, we have identified the SDHD gene encoding subunit D of the mitochondrial respiratory chain complex II as one of the genes involved in ..
  16. ncbi Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect
    Kristin Astrom
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA
    Hum Genet 113:228-37. 2003
    Hereditary paraganglioma type 1 (PGL1) is characterized by slow-growing and vascularized tumors that often develop in the carotid body (CB) and is caused by mutations in the gene for succinate dehydrogenase D ( SDHD) of mitochondrial ..
  17. ncbi Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience
    E Korpershoek
    Department of Pathology, Josephine Nefkens Institute Room Be320a, Erasmus MC, University Medical Center Rotterdam, P O Box 1738, 3000DR Rotterdam, The Netherlands, and Department of Pathology, University Hospital Zurich, Switzerland
    Ann N Y Acad Sci 1073:138-48. 2006
    ..VHL gene), neurofibromatosis Type 1 (NF1 gene), or familial pheochromocytoma-paraganglioma (PCC-PGL) syndrome (SDHD/B and C genes)...
  18. ncbi Germline succinate dehydrogenase subunit D mutation segregating with familial non-RET C cell hyperplasia
    Jorge Lima
    Institute of Molecular Pathology and Immunology of the University of Porto, Porto 4200 465, Portugal
    J Clin Endocrinol Metab 88:4932-7. 2003
    ..We investigated the possible involvement of the SDHD gene, because somatic and germline mutations in this gene have been found in a variety of tumors of neural crest-..
  19. ncbi Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity
    E C Mariman
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Genet 95:56-62. 1995
    ..65) with markers from the distal locus. These observations argue for the presence of two distinct imprinted genes for glomus tumors on 11q. A model for tumor initiation and progression is presented based on all available information...
  20. ncbi Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase
    H Hirawake
    Department of Biomedical Chemistry, Graduate School of Medicine, The University of Tokyo, 7 3 1, Hongo, Bunkyo ku, Tokyo, Japan
    Biochim Biophys Acta 1412:295-300. 1999
    We have mapped large (cybL) and small (cybS) subunits of cytochrome b in the succinate-ubiquinone oxidoreductase (complex II) of human mitochondria to chromosome 1q21 and 11q23, respectively (H. Hirawake et al., Cytogenet. Cell Genet...
  21. pmc Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes
    Ying Ni
    Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Am J Hum Genet 83:261-8. 2008
    ..One to five percent of SDHB/SDHD mutation carriers have renal cell or papillary thyroid carcinomas, which are also CS-related features...
  22. pmc The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency
    Jean Pierre Bayley
    Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, P, O, Box 9503, 2300 RA, Leiden, The Netherlands
    BMC Med Genet 6:39. 2005
    The SDHA, SDHB, SDHC and SDHD genes encode the subunits of succinate dehydrogenase (succinate: ubiquinone oxidoreductase), a component of both the Krebs cycle and the mitochondrial respiratory chain...
  23. doi An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis
    Francien H van Nederveen
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center, Rotterdam, Netherlands
    Lancet Oncol 10:764-71. 2009
    ..This syndrome is caused by germline mutations in succinate dehydrogenase B (SDHB), C (SDHC), or D (SDHD) genes...
  24. pmc Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
    D Astuti
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Birmingham B15 2TT, United Kingdom
    Am J Hum Genet 69:49-54. 2001
    ..Recently, pheochromocytoma susceptibility has been associated with germline SDHD mutations...
  25. ncbi Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity
    Alexandre Persu
    Cardiology Unit, Cliniques Universitaires Saint Luc, Universite Catholique de Louvain, Brussels, Belgium
    J Hypertens 27:76-82. 2009
    Mutations in genes encoding succinate dehydrogenase and its anchoring subunits (SDH genes) are at the origin of hereditary head and neck paraganglioma (PGL) and a subset of apparently sporadic pheochromocytoma.
  26. pmc Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis
    Erik F Hensen
    Department of Otolaryngology and Head and Neck Surgery, Leiden University Medical Center, The Netherlands
    BMC Med Genomics 2:25. 2009
    ..mitochondrial succinate-dehydrogenase (SDH) complex are associated with hereditary paraganglioma: SDHB, SDHC and SDHD. Furthermore, a hereditary paraganglioma family has been identified with linkage to the PGL2 locus on 11q13...
  27. doi The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas
    Nelly Burnichon
    Département de génétique, Hopital Europeen Georges Pompidou, 20 40 rue Leblanc, Paris, France
    J Clin Endocrinol Metab 94:2817-27. 2009
    ..Germline mutations in SDHx genes cause hereditary paraganglioma...
  28. doi L157X nonsense mutation of the succinate dehydrogenase subunit B gene in a Japanese patient with right paraaortic paraganglioma
    Haruhiro Sato
    Department of Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan
    Endocrine 38:18-23. 2010
    ..which encode two mitochondrial complex II subunits, are associated with the development of familial paraganglioma (PGL)...
  29. doi [Extra-adrenal pheochromocytoma associated to SDHD gene mutation]
    Nikolett Lendvai
    Semmelweis Egyetem, Általános Orvostudományi Kar, II Belgyógyászati Klinika, Budapest
    Orv Hetil 150:645-9. 2009
    ..represents in Hungary the first genetically confirmed case of hereditary paraganglioma/pheochromocytoma syndrome due to disease-causing mutation of the SDHD gene. Also, the authors review the progress of our knowledge about this syndrome.
  30. ncbi Resolution and reconstitution of succinate-ubiquinone reductase from Escherichia coli
    X Yang
    Department of Biochemistry and Molecular Biology, Oklahoma State University, Stillwater, Oklahoma 74078, USA
    J Biol Chem 272:9683-9. 1997
    ..active, two-subunit succinate dehydrogenase and a two-subunit membrane anchoring protein fraction (the SdhC-SdhD fraction) by alkaline (pH 10...
  31. ncbi Expression of mRNAs for succinate dehydrogenase subunits and related genes in pheochromocytoma
    Kazumasa Isobe
    Department of Clinical Pathology, Institute of Clinical Medicine, University of Tsukuba, 1 1 1 Tennnoudai, Tsukuba, Ibaraki 305 8575, Japan
    Ann N Y Acad Sci 1073:253-62. 2006
    ..In this study, we examined the level of expression of mRNAs encoding SDHB, SDHC, and SDHD in pheochromocytoma, pheochromocytoma subgroups, and normal adrenal gland, and compared the expression of these ..
  32. ncbi Two hydrophobic subunits are essential for the heme b ligation and functional assembly of complex II (succinate-ubiquinone oxidoreductase) from Escherichia coli
    K Nakamura
    Department of Parasitology, University of Tokyo, Japan
    J Biol Chem 271:521-7. 1996
    ..into MK3, respectively, indicating that sdhC encodes the large subunit (cybL) and sdhD the small subunit (cybS) of cytochrome b556...
  33. pmc Phase II study of high-dose [131I]metaiodobenzylguanidine therapy for patients with metastatic pheochromocytoma and paraganglioma
    Sara Gonias
    Department of Pediatrics, University of California, San Francisco, 350 Parnassus Ave, Suite 710, San Francisco, CA 94117, USA
    J Clin Oncol 27:4162-8. 2009
    To evaluate the safety and efficacy of high-dose [(131)I]metaiodobenzylguanidine ([(131)I]MIBG) in the treatment of malignant pheochromocytoma (PHEO) and paraganglioma (PGL).
  34. pmc The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients
    Jean Pierre Bayley
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Med Genet 10:34. 2009
    Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma...
  35. ncbi The quinone binding site in Escherichia coli succinate dehydrogenase is required for electron transfer to the heme b
    Quang M Tran
    Membrane Protein Research Group, Department of Biochemistry, University of Alberta, 473 Medical Sciences Building, Edmonton, Alberta T6G 2H7, Canada
    J Biol Chem 281:32310-7. 2006
    ..the [3Fe-4S] cluster of the SdhB subunit and the heme b(556) that is coordinated by His residues from the SdhC and SdhD subunits...
  36. doi Succinate dehydrogenase gene arrangement and expression in Anaplasma phagocytophilum
    Robert F Massung
    Rickettsial Zoonoses Branch, CDC, Atlanta, GA 30333, USA
    Gene 414:41-8. 2008
    ..directly downstream of the Anaplasma phagocytophilum (strain MRK) 16S rRNA gene identified homologues of sdhC and sdhD; however, further sequencing by gene walking failed to identify additional sdh gene homologues...
  37. pmc A recurrent stop-codon mutation in succinate dehydrogenase subunit B gene in normal peripheral blood and childhood T-cell acute leukemia
    Bora E Baysal
    Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America
    PLoS ONE 2:e436. 2007
    ..Germ line mutations in the SDHB, SDHC or SDHD genes cause hereditary paraganglioma (PGL) tumors which show constitutive activation of homeostatic mechanisms ..
  38. pmc Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA
    Bora E Baysal
    Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA
    BMC Biol 5:12. 2007
    ..In contrast, heterozygous mutations in SDHB, SDHC, and SDHD, the other SDH subunit genes, cause hereditary paraganglioma (PGL) tumors, which show constitutive activation of ..
  39. ncbi Ubiquinone-binding site mutations in the Saccharomyces cerevisiae succinate dehydrogenase generate superoxide and lead to the accumulation of succinate
    Samuel S W Szeto
    Department of Biochemistry, University of Alberta, Edmonton, Alberta, Canada
    J Biol Chem 282:27518-26. 2007
    ..Mutations in the human SDHB, SDHC, and SDHD genes are tumorigenic, leading to the development of several types of tumors, including paraganglioma and ..
  40. pmc The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications
    C A Stratakis
    Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, NICHD, NIH, Building 10, CRC, Room 1 3330, 10 Center Dr, MSC1103, Bethesda, MD 20892, USA
    J Intern Med 266:43-52. 2009
    ..Inactivating mutations of the mitochondrial complex II succinate dehydrogenase (SDH) enzyme subunits SDHB, SDHC and SDHD have been found in familial and sporadic PGLs, and gain-of-function mutations of the oncogenes c-kit (KIT) and ..
  41. ncbi Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations
    Jaume Mora
    Laboratori de biologia molecular dels tumors del desenvolupament i Oncologia Pediàtrica, Hospital Sant Joan de Deu de Barcelona, Spain
    Pediatr Blood Cancer 47:785-9. 2006
    Paraganglioma (PGL) and phaeochromocytoma (PCC) are chemotherapy and radiation-resistant neuroendocrine tumors that arise from sympathetic tissue, and rarely occur in children...
  42. pmc Comparison of 18F-fluoro-L-DOPA, 18F-fluoro-deoxyglucose, and 18F-fluorodopamine PET and 123I-MIBG scintigraphy in the localization of pheochromocytoma and paraganglioma
    Henri J L M Timmers
    Reproductive and Adult Endocrinology Program, Eunice Kennedy Shriver National Institutes of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 94:4757-67. 2009
    ..MIBG), positron emission tomography (PET) agents are available for the localization of paraganglioma (PGL), including (18)F-3,4-dihydroxyphenylalanine (DOPA), (18)F-fluoro-2-deoxy-D-glucose ((18)F-FDG), and (18)F-..
  43. ncbi Proportion of heritable paraganglioma cases and associated clinical characteristics
    C M Drovdlic
    Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, PA, USA
    Laryngoscope 111:1822-7. 2001
    To determine the heritable proportion of paraganglioma (PGL) and identify clinical features associated with heritable PGL.
  44. ncbi Isolation and characterization of the Saccharomyces cerevisiae SDH4 gene encoding a membrane anchor subunit of succinate dehydrogenase
    B L Bullis
    Department of Biochemistry, University of Alberta, Edmonton, Canada
    J Biol Chem 269:6543-9. 1994
    ..electrophoresis, determined the amino-terminal sequence of the Sdh4p subunit and used this information to clone the SDH4 gene...
  45. ncbi Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas
    Diana E Benn
    Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital, Syney, NSW, Australia
    Oncogene 22:1358-64. 2003
    ..In addition to mutations in RET and VHL in familial disease, germline mutations in SDHD and SDHB genes that encode subunits of mitochondrial complex II have also been associated with the development of ..
  46. pmc The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia
    José I Piruat
    Laboratorio de Investigaciones Biomedicas, Edificio de Laboratorios, 2 planta, Hospital Universitario Virgen del Rocio, Avenida Manuel Siurot s n, E 41013 Seville, Spain
    Mol Cell Biol 24:10933-40. 2004
    The SDHD gene encodes one of the two membrane-anchoring proteins of the succinate dehydrogenase (complex II) of the mitochondrial electron transport chain...
  47. ncbi Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas
    Simone Braun
    Institute of Anthropology and Human Genetics, Division of Molecular Genetics, University of Tubingen, Germany
    Anticancer Res 25:2809-14. 2005
    Paragangliomas are benign, slow-growing tumours of the head and neck region. The candidate gene for familial and some sporadic paragangliomas, SDHD (succinate dehydrogenase, subunit D), has been mapped to the PGL1 locus in 11q23.3.
  48. pmc Evolving concepts in the management of jugular paraganglioma: a comparison of radiotherapy and surgery in 88 cases
    Patrice Tran Ba Huy
    Hopital Lariboisiere, Service ORL, Universite Paris 7, Paris, France
    Skull Base 19:83-91. 2009
    Surgery for jugular paraganglioma (PGL) tumors often results in the acquisition of neurological deficits where none had been present previously. This has a significant impact on the quality of life...
  49. pmc The Cth2 ARE-binding protein recruits the Dhh1 helicase to promote the decay of succinate dehydrogenase SDH4 mRNA in response to iron deficiency
    Elisa Pedro-Segura
    Departament de Bioquimica i Biologia Molecular, Universitat de Valencia, Avenida Doctor Moliner 50, E 46100, Burjassot, Valencia, Spain
    J Biol Chem 283:28527-35. 2008
    ..We demonstrate that the degradation of succinate dehydrogenase SDH4 mRNA, a known target of Cth2 on iron-deficient conditions, depends on Dhh1...
  50. ncbi Familial nonsyndromic pheochromocytoma
    Giuseppe Opocher
    Endocrinology Unit, Department of Medical and Surgical Sciences, University Hospital of Padova, Padova, Italy
    Ann N Y Acad Sci 1073:149-55. 2006
    ..familial pheochromocytoma has been largely elucidated and the role of germline mutation of the VHL, RET, SDHB, and SDHD genes has been established...
  51. ncbi Genomic imprinting and environment in hereditary paraganglioma
    Bora E Baysal
    Magee Women s Research Institute and Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, 204 Craft Avenue, R332B, Pittsburgh, PA 15213, USA
    Am J Med Genet C Semin Med Genet 129:85-90. 2004
    ..PGL is caused by germ line heterozygous inactivating mutations in the SDHB (PGL4), SDHC (PGL3), or SDHD (PGL1) genes, which encode three of the four subunits of mitochondrial complex II (succinate dehydrogenase; SDH)...
  52. doi A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma
    S G Waguespack
    Department of Endocrine Neoplasia and Hormonal Disorders, The Children s Cancer Hospital, University of Texas M D Anderson Cancer Center, PO Box 301402, Unit 1461, Houston, Texas 77230 1402, USA
    J Clin Endocrinol Metab 95:2023-37. 2010
    Pheochromocytomas and paragangliomas (PHEO/PGL) are neuroendocrine tumors that arise from sympathetic and parasympathetic paraganglia...
  53. ncbi Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene
    Yohmi Oishi
    Department of Health Sciences, Hokkaido University School of Medicine, Sapporo, Japan
    Endocr J 57:745-50. 2010
    ..VHL and NF-1, genes encoding succinate dehydrogenase complex subunit B (SDHB), subunit C (SDHC), and subunit D (SDHD) are recognized as susceptibility genes for PCC and PGL...
  54. ncbi Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas
    Francesca Schiavi
    Unità di Endocrinologia, Dipartimento Scienze Mediche e Chirurgiche, Universita di Padova, Italy
    Ann N Y Acad Sci 1073:190-7. 2006
    ..and pheochromocytoma, and is classified according to the three susceptibility genes involved, SDHB, SDHC, and SDHD. This study assessed the prevalence of germline mutations in SDHB, SDHC, and SDHD genes in a consecutive population ..
  55. doi Childhood phaeochromocytoma and paraganglioma: 100% incidence of genetic mutations and 100% survival
    Philip J Hammond
    Department of Paediatric Surgery, The Royal Hospital for Sick Children, Yorkhill, G3 8SJ Glasgow, United Kingdom
    J Pediatr Surg 45:383-6. 2010
    ..is to identify the incidence of genetic mutations and outcome of children presenting with phaeochromocytoma/paraganglioma (PGL) to a single paediatric surgical service to determine the need for genetic counselling in associated kindreds.
  56. doi Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes
    Anthony J Gill
    Department of Anatomical Pathology, Royal North Shore Hospital, Sydney 2065, Australia
    Hum Pathol 41:805-14. 2010
    ..RET, Von Hippel-Lindau (VHL), neurofibromatosis type I (NF1), and succinate dehydrogenase subunits (SDHB, SDHC, and SDHD) mutations...
  57. doi Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria
    Andreas R Janecke
    Division of Clinical Genetics, Innsbruck Medical University, Innsbruck, Austria
    J Hum Genet 55:182-5. 2010
    ..the development of highly vascularized paraganglionic tumors as a result of germline mutations in the SDHB, SDHC or SDHD subunit genes of succinate dehydrogenase (SDH; mitochondrial complex II), or in the Von Hippel-Lindau tumor-..
  58. pmc Clinical features of paraganglioma syndromes
    Carsten Christof Boedeker
    Department of Otorhinolaryngology Head and Neck Surgery, University of Freiburg, Freiburg, Germany
    Skull Base 19:17-25. 2009
    ..PGLs 1-4) have been described: PGL 1 is associated with mutations of the succinate dehydrogenase (SDH) subunit D (SDHD) gene; PGL 3 is caused by SDHC gene mutations; PGL 4 is caused by SDHB gene mutations; the susceptibility gene for ..
  59. pmc Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma
    Jean Pierre Bayley
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    PLoS ONE 4:e7987. 2009
    ..Mutations of SDHD, the first protein of intermediary metabolism shown to be involved in tumorigenesis, lead to the human tumors ..
  60. ncbi Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients
    M Castellano
    Department of Internal Medicine, Laboratory of Molecular Medicine, University of Brescia, Italy
    Ann N Y Acad Sci 1073:156-65. 2006
    ..R230G in two patients, SDHB S8F, R46Q, R90Q, and VHL P81L in one subject each), and one with hnPGL carried the SDHD 348-351delGACT mutation...
  61. doi SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
    Jean Pierre Bayley
    Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    Lancet Oncol 11:366-72. 2010
    Paragangliomas and phaeochromocytomas are neuroendocrine tumours associated frequently with germline mutations of SDHD, SDHC, and SDHB...
  62. pmc No evidence for involvement of SDHD in neuroblastoma pathogenesis
    Katleen De Preter
    Center for Medical Genetics, Ghent University Hospital, K5, De Pintelaan 185, B 9000 Ghent, Belgium
    BMC Cancer 4:55. 2004
    ..The deleted region harbours the tumour suppressor gene SDHD that is frequently mutated in paraganglioma and pheochromocytoma, which are, like neuroblastoma, tumours ..
  63. ncbi Malignant pheochromocytomas and paragangliomas: a phase II study of therapy with high-dose 131I-metaiodobenzylguanidine (131I-MIBG)
    Paul A Fitzgerald
    Department of Medicine, UCSF Comprehensive Cancer Center, Box 1222, University of California, San Francisco, San Francisco, CA 94143 1222, USA
    Ann N Y Acad Sci 1073:465-90. 2006
    Thirty patients with malignant pheochromocytoma (PHEO) or paraganglioma (PGL) were treated with high-dose 131I-MIBG. Patients were 11-62 (mean 39) years old: 19 patients males and 11 females...
  64. doi Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery
    R Neil Schimke
    Department of Medicine, Kansas University School of Medicine, Kansas City, Kansas 66160, USA
    Am J Med Genet A 152:1531-5. 2010
    Familial paraganglioma/pheochromocytoma (PGL/PCC) is genetically heterogenous with mutations in three of the four subunits of the heterotetrameric mitochondrial complex II enzyme succinate dehydrogenase (SDH) being causally responsible ..
  65. pmc Mutation of the heme axial ligand of Escherichia coli succinate-quinone reductase: implications for heme ligation in mitochondrial complex II from yeast
    Elena Maklashina
    Molecular Biology Division, VA Medical Center, Department of Biochemistry and Biophysics, University of California, San Francisco, California 94158, USA
    Biochim Biophys Acta 1797:747-54. 2010
    ..The axial ligands for the low spin heme b in Escherichia coli complex II are SdhC His84 and SdhD His71. E...
  66. ncbi Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset
    Sarah R McWhinney
    Department of Molecular Genetics, The Ohio State University, Columbus, Ohio 43210, USA
    J Clin Endocrinol Metab 88:4911-6. 2003
    Approximately 75% of pheochromocytomas are sporadic. Germline mutations in RET, VHL, SDHB, and SDHD have been shown to cause the 25% that are hereditary...
  67. ncbi Genetics and biology of pheochromocytoma
    M Mannelli
    Department of Clinical Pathophysiology, Endocrinology Unit, University of Florence, Florence, Italy
    Exp Clin Endocrinol Diabetes 115:160-5. 2007
    ..The genes currently known to be responsible for tumor formation are RET, VHL, NF1, SDHB, SDHC and SDHD. Germline mutations of these genes increase the risk of developing pheochromocytomas and/or paragangliomas which ..
  68. ncbi Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytoma
    G Opocher
    Endocrinology Unit, Department of Medical and Surgical Sciences, University of Padua, Padua, Italy
    Clin Endocrinol (Oxf) 59:707-15. 2003
    ..25% of apparently sporadic forms of pheochromocytoma are actually due to germline mutations of RET, VHL, SDHB or SDHD genes, the genetic bases of the tumourigenesis of this type of cancer are still incompletely understood...
  69. ncbi Retention of heme in axial ligand mutants of succinate-ubiquinone xxidoreductase (complex II) from Escherichia coli
    E Maklashina
    Molecular Biology Division 151 S, Veterans Affairs Medical Center, San Francisco, California 94121, USA
    J Biol Chem 276:18968-76. 2001
    ..In the E. coli enzyme, heme b(556) is ligated between SdhC His(84) and SdhD His(71). Contrary to a previous report (Vibat, C. R. T., Cecchini, G., Nakamura, K., Kita, K., and Gennis, R. B...
  70. ncbi Mutations of the SDHB and SDHD genes
    Christian Pawlu
    Department of Nephrology and Hypertension, Albert Ludwigs Universitat, Freiburg, Germany
    Fam Cancer 4:49-54. 2005
    ..Mutations in the SDHB (1p35-36) and SDHD subunits (11q23) give rise to the paraganglioma syndromes (PGL), namely PGL 4 and PGL 1, and generate paraganglioma ..
  71. doi Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways
    Aguirre A de Cubas
    Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro Nacional de Investigaciones Oncologicas, Melchor Fernandez Almagro 3, Madrid, Spain
    Endocr Relat Cancer 20:477-93. 2013
    ..Through characterization of miRNA profiles in 69 frozen tumors with germline mutations in the genes SDHD, SDHB, VHL, RET, NF1, TMEM127, and MAX, we identified miRNA signatures specific to, as well as common among, the ..
  72. ncbi Multiparameter DNA flow-sorting demonstrates diploidy and SDHD wild-type gene retention in the sustentacular cell compartment of head and neck paragangliomas: chief cells are the only neoplastic component
    Pieter B Douwes Dekker
    Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands
    J Pathol 202:456-62. 2004
    ..A substantial number of these tumours show mutations in the SDHD gene located at chromosome 11q23...
  73. ncbi A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas
    Margarete Maier-Woelfle
    Department of Internal Medicine, University Hospital Zurich, CH 8091 Zurich, Switzerland
    J Clin Endocrinol Metab 89:362-7. 2004
    We report a family with malignant sympathetic paragangliomas (PGL) exhibiting a new type of germline mutation in the succinate dehydrogenase subunit B (SDHB) gene...
  74. ncbi Production and characterization of peptide mimotopes of phenolic glycolipid-I of Mycobacterium leprae
    Ju Ho Youn
    Department of Microbiology, Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, 134 Shinchon dong, Seoul 120 752, Republic of Korea
    FEMS Immunol Med Microbiol 41:51-7. 2004
    Phenolic glycolipid-I (PGL-I), a Mycobacterium leprae-specific antigen, has been widely used for the serodiagnosis of leprosy and has been implicated in the pathogenesis of leprosy...
  75. pmc The impact of short daily hemodialysis on anemia and the quality of life in Chinese patients
    J L Jiang
    Qilu Hospital, Shandong University, Department of Nephrology, Jinan, China
    Braz J Med Biol Res 46:629-33. 2013
    ..Compared to conventional hemodialysis (CHD), short daily hemodialysis (sDHD) has been reported to be effective in many countries except China...
  76. ncbi Seroreactivity to new Mycobacterium leprae protein antigens in different leprosy-endemic regions in Brazil
    Emerith Mayra Hungria
    Instituto de Patologia Tropical e Saude Publica, Universidade Federal de Goias, Goiania, GO, Brasil
    Mem Inst Oswaldo Cruz 107:104-11. 2012
    ..to detect IgG to proteins (92f, 46f, leprosy IDRI diagnostic-1, ML0405, ML1213) and IgM to phenolic glycolipid-I (PGL-I)...
  77. doi [Diagnosis of pheochromocytoma and paraganglioma: the clonidine suppression test in patients with borderline elevations of plasma free normetanephrine]
    R Darr
    Medizinische Klinik III, UniversitätsklinikumCarl Gustav Carus der Technischen Universität Dresden
    Dtsch Med Wochenschr 138:76-81. 2013
    ..of plasma free metanephrines provide a sensitive test for the diagnosis of pheochromocytoma/paraganglioma (P/PGL), with highly elevated levels diagnostic of the disease...
  78. pmc Diversity in the protein N-glycosylation pathways within the Campylobacter genus
    Harald Nothaft
    Alberta Glycomics Centre and Department of Biological Sciences, University of Alberta, Edmonton, AB, Canada
    Mol Cell Proteomics 11:1203-19. 2012
    The foodborne bacterial pathogen, Campylobacter jejuni, possesses an N-linked protein glycosylation (pgl) pathway involved in adding conserved heptasaccharides to asparagine-containing motifs of >60 proteins, and releasing the same ..
  79. doi Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis
    Leonie Theresia van Hulsteijn
    Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    J Med Genet 49:768-76. 2012
    ..a systematic review and meta-analysis on the risk of developing malignant paraganglioma (PGL) in SDHB-mutation and SDHD-mutation carriers...
  80. doi Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators
    Anne Paule Gimenez-Roqueplo
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, Paris, France
    J Clin Endocrinol Metab 98:E162-73. 2013
    ..Recommendations have not been established concerning imaging to screen SDHx mutation carriers for paraganglioma and pheochromocytoma...
  81. pmc Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western Sweden
    Andreas Muth
    Department of Surgery, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden
    World J Surg 36:1389-94. 2012
    Germline mutations in the susceptibility genes RET, SDHB, SDHD, and VHL have been reported in 7.5-24% of patients with pheochromocytoma (Pheo) or paraganglioma (PGL) and sporadic presentation...
  82. doi Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3
    Angelica Malinoc
    Department of Nephrology and General Medicine Pathology, University Medical Center, Albert Ludwigs University, Freiburg, Germany
    Endocr Relat Cancer 19:283-90. 2012
    ..A subset of individuals with SDHB and SDHD germline DNA mutations and variants develop RCC...
  83. ncbi The role of Mycobacterium leprae phenolic glycolipid I (PGL-I) in serodiagnosis and in the pathogenesis of leprosy
    John S Spencer
    Department of Microbiology, Immunology and Pathology, Colorado State University, Fort Collins, CO 80523 1682, USA
    Lepr Rev 82:344-57. 2011
    b>PGL-I (phenolic glycolipid I) emerged in the early 1980s on the one hand as part of intensive efforts to define the typing antigens of a host of Mycobacterium spp...
  84. doi Physical characterization and cellular uptake of propylene glycol liposomes in vitro
    Lu Zhang
    Wenzhou Medical College, Wenzhou City, Zhejiang Province, China
    Drug Dev Ind Pharm 38:365-71. 2012
    ..to facilitate the intracellular delivery of therapeutic agents, a new type of liposomes-propylene glycol liposomes (PGL) were prepared, and their cell translocation capability in vitro was examined...
  85. ncbi Mutations associated with succinate dehydrogenase D-related malignant paragangliomas
    Henri J L M Timmers
    Reproductive Biology and Adult Endocrinology Program, National Institutes of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1109, USA
    Clin Endocrinol (Oxf) 68:561-6. 2008
    ..mutations in genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase (SDHB, SDHC and SDHD). SDHB-related PGLs are known in particular for their high malignant potential...
  86. ncbi Screening for familial paragangliomas
    David Myssiorek
    Department of Otolaryngology, New York University School of Medicine, New York, USA
    Oral Oncol 44:532-7. 2008
    ..An international collaboration finally elucidated the SDHB, SDHC and SDHD genes for three paraganglioma syndromes (PGL 4, 3, 1)...
  87. ncbi Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma
    Esther Korpershoek
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center Rotterdam, JNI room 222, PO Box 2040, 3000 CR Rotterdam, The Netherlands
    Endocr Relat Cancer 14:453-62. 2007
    ..germline mutations in RET, von Hippel-Lindau disease (VHL), succinate dehydrogenase subunit B (SDHB), or subunit D SDHD. However, few studies have addressed the mutationfrequency of these candidate genes in selected subgroups of PCC ..
  88. doi Highly hydrophilic surfaces from polyglycidol grafts with dual antifouling and specific protein recognition properties
    Sarra Gam-Derouich
    ITODYS, University Denis Diderot and CNRS UMR 7086, 15 rue Jean de Baïf, 75013 Paris, France
    Langmuir 27:9285-94. 2011
    Homopolymer grafts from α-tert-butoxy-ω-vinylbenzyl-polyglycidol (PGL) were prepared on gold and stainless steel (SS) substrates modified by 4-benzoyl-phenyl (BP) moieties derived from the electroreduction of the parent salt 4-benzoyl ..
  89. doi Mitochondrial complex II participates in normoxic and hypoxic regulation of α-keto acids in the murine heart
    Jörg Mühling
    Department of Anesthesiology, Pain and Palliative Medicine, University Medical Center St Radboud, Nijmegen, The Netherlands
    J Mol Cell Cardiol 49:950-61. 2010
    ..SDH subunit D heterozygous (SDHD(+/-)) and wild-type (WT) mice were housed at normoxia or hypoxia (10% O(2)) for 4 days or 3 weeks, and right ..
  90. doi SDHB loss predicts malignancy in pheochromocytomas/sympathethic paragangliomas, but not through hypoxia signalling
    Annika Blank
    Institute of Pathology, Klinikum rechts der Isar, Technische Universitat Munchen, Munich, Germany
    Endocr Relat Cancer 17:919-28. 2010
    ..In a familial setting, it is well known that succinate dehydrogenase subunit B (SDHB)-associated PCC/PGL very often metastasise...
  91. ncbi Familial pheochromocytoma
    Zoran Erlic
    Section for Preventive Medicine, Department of Nephrology and General Medicine, University Medical Center, Albert Ludwigs University of Freiburg, Freiburg, Germany
    Hormones (Athens) 8:29-38. 2009
    ..1, 3 and 4 and are caused by mutations in the succinate dehydrogenase (SDH) subunit D, C and B genes, respectively (SDHD, SDHC and SDHB)...
  92. ncbi Complete remission by chemotherapy in stage IE-IIE primary gastric lymphoma
    Mitsugu Kochi
    Department of Digestive Surgery, Nihon University School of Medicine, Tokyo, Japan
    Hepatogastroenterology 54:1285-8. 2007
    There are many controversies regarding the treatment for primary gastric non-Hodgkin's lymphoma (PGL)...
  93. pmc Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1
    Mariola Peczkowska
    Department of Hypertension, Institute of Cardiology, 04 628 Warsaw, Poland
    J Clin Endocrinol Metab 93:4818-25. 2008
    Germline mutations of the genes SDHB, SDHC, and SDHD predispose to paraganglioma syndromes. Mutation-specific counseling, risk assessment, and management recommendations ideally should be performed...
  94. doi Extra-adrenal pheochromocytoma in the organ of Zuckerkandl: diagnosis and treatment strategies
    D Kahraman
    Department of Nuclear Medicine, University of Cologne, Germany
    Exp Clin Endocrinol Diabetes 119:436-9. 2011
    Pheochromocytoma (PHEO) and paraganglioma (PGL) are rare catecholamine-secreting neuroendocrine tumors arising from chromaffin tissue and can occur within the adrenal medulla (PHEO) or extra-adrenal sites (PGL)...
  95. pmc Biochemical characterization of the O-linked glycosylation pathway in Neisseria gonorrhoeae responsible for biosynthesis of protein glycans containing N,N'-diacetylbacillosamine
    Meredith D Hartley
    Departments of Chemistry and Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
    Biochemistry 50:4936-48. 2011
    ..Protein glycosylation (pgl) genes have been annotated on the basis of bioinformatics and top-down mass spectrometry analysis of protein ..
  96. doi Clinical and molecular progress in hereditary paraganglioma
    B E Baysal
    Department of Pathology, Yale University School of Medicine, 310 Cedar Street, BML B38, New Haven, CT 06520 8023, USA
    J Med Genet 45:689-94. 2008
    ..vascular tumours of the paraganglionic tissues and caused by germ line inactivating mutations in the SDHB, SDHC and SDHD subunits of mitochondrial succinate dehydrogenase enzyme complex (SDH; mitochondrial complex II)...
  97. doi Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas
    Roger D Klein
    Mayo Clinic, Rochester, MN, USA
    Diagn Mol Pathol 17:94-100. 2008
    Germline mutations in the genes encoding the B (SDHB) and D (SDHD) subunits of the heterotetrameric protein succinate dehydrogenase (mitochondrial complex II) are important causes of inherited and apparently sporadic paragangliomas...
  98. pmc Genomic imprinting at a boundary element flanking the SDHD locus
    Bora E Baysal
    Department of Pathology, Yale University School of Medicine, New Haven, CT 06510, USA
    Hum Mol Genet 20:4452-61. 2011
    Germline mutations in SDHD, a mitochondrial complex II (succinate dehydrogenase) subunit gene at chromosome band 11q23, cause highly penetrant paraganglioma (PGL) tumors when transmitted through fathers...
  99. ncbi Early detection of leprosy by examination of household contacts, determination of serum anti-PGL-1 antibodies and consanguinity
    Renata Bazan-Furini
    Divisão de Dermatologia, Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Ribeirao Preto, SP, Brasil
    Mem Inst Oswaldo Cruz 106:536-40. 2011
    ..The families of 83 patients underwent clinical examination and serum anti-PGL1 measurement using enzyme-linked immunosorbent assay...
  100. doi [Paragangliomas and paraganglioma syndromes]
    C C Boedeker
    Universitätsklinik für Hals, Nasen und Ohrenheilkunde und Poliklinik, Freiburg, Germany
    Laryngorhinootologie 90:S56-82. 2011
    ..PGL 1 is associated with mutations of the succinate dehydrogenase subunit D (SDHD) gene, PGL 3 is caused by SDHC and PGL 4 by SDHB gene mutations...

Research Grants64

  1. Host-Pathogen Determinants of M.tb Latency
    Gilla Kaplan; Fiscal Year: 2009
    ..We found that a phenolic glycolipid of Mtb (PGL-tb) enables the bacilli to evade and/or subvert host protective immunity...
  2. Epigenetic Regulation of Mitochondiral Complex II
    Gerald S Shadel; Fiscal Year: 2010
    ..Mutations in the smallest subunit of complex II, encoded by a gene named SDHD, are the primary cause of head and neck paragangliomas...
  3. Epigenetic Regulation of Mitochondiral Complex II
    Bora Baysal; Fiscal Year: 2007
    ..Mutations in the smallest subunit of complex II, encoded by a gene named SDHD, are the primary cause of head and neck paragangliomas...
  4. Functional Analysis of the Von Hippel-Lindau Protein
    William G Kaelin; Fiscal Year: 2010
    ..We recently found that all of the genes linked to familial pheochromocytoma (VHL, NF1, c-Ret, SDHB, SDHC, SDHD) regulate apoptosis of sympathoadrehal precursor cells following NGF withdrawal and that pheochromocytoma-..
  5. Functional Analysis of the Von Hippel-Lindau Protein
    William Kaelin; Fiscal Year: 2007
    ..We recently found that all of the genes linked to familial pheochromocytoma (VHL, NF1, c-Ret, SDHB, SDHC, SDHD) regulate apoptosis of sympathoadrehal precursor cells following NGF withdrawal and that pheochromocytoma-..
  6. Functional Analysis of the Von Hippel-Lindau Protein
    William Kaelin; Fiscal Year: 2009
    ..We recently found that all of the genes linked to familial pheochromocytoma (VHL, NF1, c-Ret, SDHB, SDHC, SDHD) regulate apoptosis of sympathoadrehal precursor cells following NGF withdrawal and that pheochromocytoma-..
  7. Functional Analysis of the Von Hippel-Lindau Protein
    William Kaelin; Fiscal Year: 2009
    ..We recently found that all of the genes linked to familial pheochromocytoma (VHL, NF1, c-Ret, SDHB, SDHC, SDHD) regulate apoptosis of sympathoadrehal precursor cells following NGF withdrawal and that pheochromocytoma-..
  8. MYCOBACTERIUM LEPRAE ANTIGENS AND NERVE DAMAGE
    Anura Rambukkana; Fiscal Year: 2003
    ..In preliminary studies, the PI has shown that phenolic glycolipid 1 (PGL-1) and a novel M. leprae cell wall protein of 21 kDa bind laminin-2...
  9. SCCOR in Host Factors in Chronic Lung Disease
    Richard Boucher; Fiscal Year: 2007
    ..layer should really be considered as two gels, one surrounding the cilia which we call the peri-ciliary gel layer (PGL) and the other flowing mucus layered upon it and moved by it...
  10. Expression of Human Therapeutic Proteins in Transgenic Tobacco Chloroplasts
    Henry Daniell; Fiscal Year: 2006
    ..functional, and structural studies; e) Create a chloroplast capable of glycosylation of a foreign protein using the pgl operon...
  11. Expression of Human Therapeutic Proteins in Transgenic Tobacco Chloroplasts
    Henry Daniell; Fiscal Year: 2009
    ..functional, and structural studies; e) Create a chloroplast capable of glycosylation of a foreign protein using the pgl operon...
  12. Expression of Human Therapeutic Proteins in Transgenic Tobacco Chloroplasts
    Henry Daniell; Fiscal Year: 2010
    ..functional, and structural studies;e) Create a chloroplast capable of glycosylation of a foreign protein using the pgl operon...
  13. Colonization and Pathogenicity Determinants of C. jejuni
    Victor J DiRita; Fiscal Year: 2010
    ..Among the genes identified in this screen were those required for N-linked protein glycosylation system, called pgl genes. The role of protein glycosylation in the biology and pathogenicity-related behavior of C...
  14. BRAIN TARGETING OF THYROTROPIN RELEASING HORMONE ANALOGS
    Laszlo Prokai; Fiscal Year: 2002
    ..be improved by using alpha-hydroxyglycine to achieve carboxy-terminal amidation via peptidylamidoglycolate lyase (PGL, EC 4.3.2...
  15. CONTROL OF NEONATAL CIRCULATION
    CHARLES LEFFLER; Fiscal Year: 2006
    ..inhibition of either nitric oxide synthase (NOS) or cyclooxygenase (COX) inhibits dilation to CO, and NO, and the PGL, analog, iloprost, can restore dilation to CO following inhibition of NOS and COX...
  16. Components of C. elegans P-granules and regulation of their function
    Ekaterina Voronina; Fiscal Year: 2007
    ..elegans expressing a GFP fusion to the germ granule component PGL-1, and an RNAi library targeting -3,000 genes expressed preferentially in the female germline...
  17. Host-Pathogen Interactions and M.tb Drug Resistance
    Gilla Kaplan; Fiscal Year: 2007
    ..tuberculosis phenol glycolipid (PGL-tb), which induces a host immune response that fails to control bacillary growth efficiently, is therefore ..
  18. Host-Pathogen Interactions and M.tb Drug Resistance
    Gilla Kaplan; Fiscal Year: 2006
    ..tuberculosis phenol glycolipid (PGL-tb), which induces a host immune response that fails to control bacillary growth efficiently, is therefore ..
  19. Host-Pathogen Interactions and M.tb Drug Resistance
    Gilla Kaplan; Fiscal Year: 2009
    ..tuberculosis phenol glycolipid (PGL-tb), which induces a host immune response that fails to control bacillary growth efficiently, is therefore ..
  20. Mycobacterial PDIM/PGL: synthesis pathway and inhibition
    LUIS E QUADRI; Fiscal Year: 2010
    ..studies will investigated several hypothesized steps in DPK synthesis and explore the development of a first PGL synthesis inhibitor...
  21. Mycobacterial PDIM/PGL: synthesis pathway and inhibition
    LUIS QUADRI; Fiscal Year: 2007
    ..studies will investigated several hypothesized steps in DPK synthesis and explore the development of a first PGL synthesis inhibitor...
  22. CONTROL OF EARLY GERMLINE DEVELOPMENT IN C ELEGANS
    Susan Strome; Fiscal Year: 1999
    ..b>pgl-1 was identified in genetic screens: pgl-1 mutant worms lack some P-granule epitopes and show a maternal-effect ..
  23. CONTROL OF EARLY GERMLINE DEVELOPMENT IN C ELEGANS
    Susan Strome; Fiscal Year: 2003
    ..The proposed studies of of P granules are based on the discovery in Dr. Stome's lab of PGL-1 protein a putative RNA binding P-granule protein that is required for germ-line development...
  24. Host-Pathogen Determinants of M.tb Latency
    Gilla Kaplan; Fiscal Year: 2007
    ..We found that a phenolic glycolipid of Mtb (PGL-tb) enables the bacilli to evade and/or subvert host protective immunity...