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 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
  3. 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
  4. 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
  5. ncbi Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases
    Kathrin Riemann
    Institute of Pathology, University of Tubingen, Wilhelmstrasse 27, 72074 Tubingen, Germany
    Cancer Genet Cytogenet 150:128-35. 2004
  6. 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
  7. ncbi Germ-line mutations in nonsyndromic pheochromocytoma
    Hartmut P H Neumann
    Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
    N Engl J Med 346:1459-66. 2002
  8. doi Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect
    Phey M Yeap
    Department of Endocrinology, Western Infirmary, Glasgow G11 6NT, United Kingdom
    J Clin Endocrinol Metab 96:E2009-13. 2011
  9. 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
  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

Detail Information

Publications250 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 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...
  3. 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)...
  4. 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 ..
  5. ncbi Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases
    Kathrin Riemann
    Institute of Pathology, University of Tubingen, Wilhelmstrasse 27, 72074 Tubingen, Germany
    Cancer Genet Cytogenet 150:128-35. 2004
    ..Mutations in a subunit of the mitochondrial enzyme II complex (succinate dehydrogenase [SDHD]) were shown to be responsible for the formation of paragangliomas...
  6. 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...
  7. ncbi Germ-line mutations in nonsyndromic pheochromocytoma
    Hartmut P H Neumann
    Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
    N Engl J Med 346:1459-66. 2002
    ..von Hippel-Lindau disease) now also encompasses the newly identified genes for succinate dehydrogenase subunit D (SDHD) and succinate dehydrogenase subunit B (SDHB), which predispose carriers to pheochromocytomas and glomus tumors...
  8. doi Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect
    Phey M Yeap
    Department of Endocrinology, Western Infirmary, Glasgow G11 6NT, United Kingdom
    J Clin Endocrinol Metab 96:E2009-13. 2011
    Pheochromocytoma/paraganglioma occurs almost exclusively after paternal transmission of succinate dehydrogenase D (SDHD) mutations...
  9. 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...
  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 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
    Hartmut P H Neumann
    Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
    JAMA 292:943-51. 2004
    Germline mutations of the genes encoding succinate dehydrogenase subunits B (SDHB) and D (SDHD) predispose to paraganglioma syndromes type 4 (PGL-4) and type 1 (PGL-1), respectively...
  12. 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
    ..Analysis of families carrying the PGL1 gene, described here, revealed germ line mutations in the SDHD gene on chromosome 11q23...
  13. 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).
  14. 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...
  15. doi Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation
    Pascal Pigny
    Laboratoire de Biochimie et Hormonologie, Centre de Biologie et Pathologie, Centre Hospitalier Regional and Universitaire, Lille Cedex, France
    J Clin Endocrinol Metab 93:1609-15. 2008
    Inactivating mutations of SDHD, which is mapped to 11q23 and encodes the cybS subunit of succinate dehydrogenase, predispose to hereditary paraganglioma (PGL) and/or pheochromocytoma...
  16. ncbi Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families
    Erik F Hensen
    Department of Otolaryngology and Head and Neck Surgery, Leiden University Medical Centre, Albinusdreef 2, H4Q, 2333 ZA, Leiden, The Netherlands
    Oncogene 23:4076-83. 2004
    Germline mutations in succinate dehydrogenase subunits B, C and D (SDHB, SDHC and SDHD), genes encoding subunits of mitochondrial complex II, cause hereditary paragangliomas and phaeochromocytomas...
  17. 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...
  18. 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...
  19. 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
    ..that often develop in the carotid body (CB) and is caused by mutations in the gene for succinate dehydrogenase D ( SDHD) of mitochondrial complex II...
  20. 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-..
  21. 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...
  22. 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...
  23. 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)...
  24. 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 ..
  25. 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...
  26. 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...
  27. 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
    ..Hirawake et al., Cytogenet. Cell Genet. 79 (1997) 132-138). In the present study, the human SDHD gene encoding cybS was cloned and characterized...
  28. 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...
  29. 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...
  30. 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.
  31. 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...
  32. 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...
  33. 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)...
  34. 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.
  35. 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...
  36. 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 ..
  37. 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
    ..Gene products of sdhC and sdhD are small hydrophobic subunits that anchor the hydrophilic catalytic subunits (flavoprotein and iron-sulfur protein)..
  38. 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).
  39. 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...
  40. 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...
  41. 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...
  42. 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 ..
  43. 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 ..
  44. 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
    ..All of the mutants examined have reduced ubiquinone reductase activities. The SDH3 R47K, SDH4 D88E, and SDH4 D88N mutants are sensitive to hyperoxia and paraquat and have elevated rates of superoxide ..
  45. 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-..
  46. 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...
  47. 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.
  48. 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...
  49. 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...
  50. 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.
  51. 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 ..
  52. 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...
  53. 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...
  54. 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...
  55. 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...
  56. 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)...
  57. 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...
  58. 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 ..
  59. 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...
  60. 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.
  61. 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-..
  62. 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...
  63. 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 ..
  64. 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 ..
  65. 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 ..
  66. 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...
  67. 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...
  68. 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 ..
  69. 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...
  70. 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...
  71. 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...
  72. ncbi Fluorine-18 DOPA PET imaging of paraganglioma syndrome
    Ingo Brink
    Department of Radiology, Albert Ludwigs University, Freiburg, Germany
    Clin Nucl Med 31:39-41. 2006
    ..The patient carries a mutation of the gene Succinate dehydrogenasis subunits D (SDHD) and is thus classified with the paraganglioma syndrome type 1.
  73. doi In vitro anti-influenza virus activities of sulfated polysaccharide fractions from Gracilaria lemaneiformis
    Mei Zhen Chen
    Department of Biology of Shantou University, Shantou, 515063, China
    Virol Sin 25:341-51. 2010
    ..Cytotoxicities and antiviral activities of Gracilaria lemaneiformis polysaccharides (PGL), Gracilaria lemaneiformis polysaccharide fraction-1 (GL-1), Gracilaria lemaneiformis polysaccharide fraction-2 (GL-..
  74. doi Enhanced gene expression in epithelial cells transfected with amino acid-substituted gemini nanoparticles
    Peng Yang
    Department of Chemistry, University of Saskatchewan, Saskatoon, Canada
    Eur J Pharm Biopharm 75:311-20. 2010
    ..measurements were used to characterize the plasmid-gemini (PG) and plasmid-gemini surfactant-helper lipid (PGL) complexes. Gene expression was found to increase up to 72h and then declined by the 7th day...
  75. ncbi Primary gastric lymphoma
    Tariq Parvez
    Department of Oncology, King Fahad Hospital, Madina Munawra, KSA
    J Coll Physicians Surg Pak 17:36-40. 2007
    To evaluate the clinico-pathological status of Primary Gastric Lymphoma (PGL) at presentation in King Fahad Hospital, Madina Munawra, Kingdom of Saudi Arabia (KSA).
  76. ncbi Lack of symptoms in patients with histologic evidence of pheochromocytoma: a diagnostic challenge
    Debbie L Cohen
    Renal Electrolyte and Hypertension Division, Department of Surgery, University of Pennsylvania, 210 White Building, 3400 Spruce Street, Philadelphia, PA 19104, USA
    Ann N Y Acad Sci 1073:47-51. 2006
    ..neurofibromatosis type 1, two had von Hippel-Lindau disease, one had multiple endocrine neoplasia 2A, and one PGL/SDHD genetic mutation. Twenty-six patients had sporadic tumors or had not had genetic testing...
  77. pmc Vancomycin pharmacokinetics and pharmacodynamics during short daily hemodialysis
    Brian S Decker
    Indiana University School of Medicine, Indianapolis, IN, USA
    Clin J Am Soc Nephrol 5:1981-7. 2010
    Short daily hemodialysis (SDHD) is an alternative to thrice-weekly HD because of its putative physiologic benefits. The purpose of this study was to investigate the effect of SDHD on the pharmacokinetics and pharmacodynamics of vancomycin.
  78. ncbi Inhibition of thymidylate synthase by pergularinine, tylophorinidine and deoxytubulosine
    K N Rao
    Radiation Biology and Biochemistry Division, Bhabha Atomic Research Centre, Mumbai, India
    Indian J Biochem Biophys 36:442-8. 1999
    ..thymidylate synthase (TS) purified in our laboratory from Lactobacillus leichmannii was inhibited by pergularinine (PGL) and tylophorinidine (TPD) and deoxytubulosine (DTB) isolated from the Indian medicinal plants Pergularia pallida ..
  79. pmc High-throughput screening for growth inhibitors using a yeast model of familial paraganglioma
    Irina Bancos
    Department of Biochemistry and Molecular Biology, Mayo Clinic College of Medicine, Rochester, Minnesota, United States of America
    PLoS ONE 8:e56827. 2013
    ..A remarkable puzzle is therefore presented by familial paraganglioma (PGL), a neuroendocrine cancer where the tumor suppressor genes encode subunits of succinate dehydrogenase (SDH), an ..
  80. 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 ..
  81. ncbi A large deletion in the succinate dehydrogenase B gene (SDHB) in a Japanese patient with abdominal paraganglioma and concomitant metastasis
    Hitomi Kodama
    Departments of Endocrine Surgery, Tokyo Women s Medical University, Tokyo, Japan
    Endocr J 57:351-6. 2010
    ..mutations in nuclear genes encoding two mitochondrial complex II subunit proteins, Succinate dehydrogenase D (SDHD) and SDHB, have been found to be associated with the development of familial pheochromocytomas and paragangliomas (..
  82. doi Mutations in the C. elegans succinate dehydrogenase iron-sulfur subunit promote superoxide generation and premature aging
    Jingzhou Huang
    Department of Biochemistry, University of Alberta, Edmonton, Alberta, Canada
    J Mol Biol 387:559-69. 2009
    ..Mutations in the human SDHB, SDHC and SDHD genes are responsible for the development of paraganglioma and pheochromocytoma, tumors of the head and neck or the ..
  83. 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...
  84. pmc The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3)
    Tobias Else
    Department of Internal Medicine, Divisions of Metabolism Endocrinology and Diabetes T E, R J A, Molecular Medicine and Genetics J N E, V M R, and Gastroenterology E M S, Department of Human Genetics M L M, and Department of Otolaryngology Head and Neck Surgery H A A at the University of Michigan Hospital and Health Systems, Ann Arbor, Michigan 48109 and Norris Cancer Center S B G, University of Southern California, Los Angeles, California 90033
    J Clin Endocrinol Metab 99:E1482-6. 2014
    ..Although the phenotypes associated with the more commonly mutated genes, SDHB and SDHD, are well described, less is known about SDHC-associated paragangliomas.
  85. doi Novel dual-binding function of a poly (C)-binding protein 3, transcriptional factor which binds the double-strand and single-stranded DNA sequence
    Duk Hee Kang
    Division of Nephrology Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul 158 710, South Korea
    Gene 501:33-8. 2012
    ..plasmids expressing PCBP3 repressed the expression of luciferase reporters when cotransfected with single-strand (pGL-SS) and double-strand (pGL-DS) constructs containing poly(C) sequences in their promoters...
  86. ncbi Molecular dissection of the role of two methyltransferases in the biosynthesis of phenolglycolipids and phthiocerol dimycoserosate in the Mycobacterium tuberculosis complex
    Esther Perez
    Département Mécanismes Moléculaires des Infections Mycobactériennes, Institut de Pharmacologie et Biologie Structurale, CNRS and Université Paul Sabatier Unité Mixte de Recherche 5089, 205 route de Narbonne, 31077 Toulouse Cedex, France
    J Biol Chem 279:42584-92. 2004
    ..produce dimycocerosates of phthiocerol (DIM) and of glycosylated phenolphthiocerol, also called phenolglycolipid (PGL), two groups of molecules shown to be important virulence factors...
  87. ncbi Excitatory neurosteroids attenuate apoptotic and excitotoxic cell death in primary cortical neurons
    M Leskiewicz
    Department of Experimental Neuroendocrinology, Institute of Pharmacology Polish Academy of Sciences, Krakow, Poland
    J Physiol Pharmacol 59:457-75. 2008
    ..was to examine the effect of dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEAS), pregnenolone (PGL) and allopregnanolone (Allo) on staurosporine-, glutamate-, and NMDA-induced damage in primary cortical neuronal ..
  88. ncbi [The clinical implication of left ventricular hypertrophy in patients with pheochromocytoma and paraganglioma]
    Li Ding
    Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China
    Zhonghua Xin Xue Guan Bing Za Zhi 42:1029-34. 2014
    To explore the clinical implications of left ventricular hypertrophy (LVH) in patients with pheochromocytoma and paraganglioma (PH/PGL).
  89. ncbi [Nocturnal hemodialysis: an alternative treatment for a better quality of life]
    L Tartaglia
    S C Nefrologia e Dialisi a direzione Universitaria, Azienda Ospedaliero Universitaria OO R R, Viale Luigi Pinto 1, Foggia, Italy
    G Ital Nefrol 25:702-7. 2008
    ..Alternative hemodialysis strategies including short daily hemodialysis (SDHD), long hemodialysis (LHD) and nocturnal daily hemodialysis (NDHD) have been developed in the hope to improve ..
  90. ncbi A high-resolution STS, EST, and gene-based physical map of the hereditary paraganglioma region on chromosome 11q23
    B E Baysal
    Department of Human Genetics, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15213, USA
    Genomics 44:214-21. 1997
    ..Most of the informative families appear to be linked to the distal locus on chromosome 11q23 (PGL1), which has been previously confined to a 2-cM interval by haplotype analysis in an extended Dutch pedigree...
  91. ncbi Utility of immunohistochemical investigation of SDHB and molecular genetic analysis of SDH genes in the differential diagnosis of mesenchymal tumors of GIT
    M Dubova
    Sikl s Department of Pathology, Medical Faculty Hospital, Charles University, Plzen, Czech Republic
    Histol Histopathol 30:223-32. 2015
    ..Among the 11 KIT/PDGFRA wt GISTs, 6 expressed SDHB, 1 of them harboring a sequence change of SDHD. All SDHB-negative cases were SDHB-D wt...
  92. pmc Vascular pattern analysis for the prediction of clinical behaviour in pheochromocytomas and paragangliomas
    Lindsey Oudijk
    Department of Pathology, Erasmus MC Cancer Institute, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
    PLoS ONE 10:e0121361. 2015
    ..Currently, there are no generally accepted markers for identifying a primary PCC or PGL as malignant. In 2002, Favier et al...
  93. ncbi [Histopathological examination of Buruli ulcer (Mycobacterium ulcerans disease) in surgically removed skin]
    Satoyo Wakai
    Division of Research and Examination, National Hospital Organization Nishisaitama Chuo National Hospital, Saitama, Japan
    Nihon Hansenbyo Gakkai Zasshi 80:269-74. 2011
    ..M. ulcerans was positive in a Fite stain and in a PGL-1 immunohistological stain. Based on these cases, we discuss the histological characteristics of Buruli ulcer.
  94. 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...
  95. doi Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC)
    Ulrich Muller
    Institut fur Humangenetik, Justus Liebig Universitat, Giesen, and bio logis, Zentrum für Humangenetik, Frankfurt aM, 35392 Giessen, Germany
    Neurogenetics 12:175-81. 2011
    ..Mutations in genes encoding the small subunits of SDH, i.e., SDHD and SDHC, cause PGL1 and PGL3...
  96. ncbi A probabilistic assessment of the diagnosis of paraganglioma/pheochromocytoma based on clinical criteria and biochemical/imaging findings
    Ioannis Ilias
    Department of Nuclear Medicine, Hippokration General Hospital, Konstantinoupoleos St 49, P C 546 42, Thessaloniki, Macedonia, Greece
    Hell J Nucl Med 18:63-5. 2015
    Paragangliomas (PGL) and pheochromocytomas (P) are rare neural-crest-derived neoplasms. Very recently guidelines on diagnosis and treatment of PGL/P have been presented by the US Endocrine Society...
  97. doi Recent advances in the genetics of phaeochromocytoma and functional paraganglioma
    Anne Paule Gimenez-Roqueplo
    Paris Descartes University, Paris, France
    Clin Exp Pharmacol Physiol 35:376-9. 2008
    ..genetic studies have now shown that 25-30% of patients have hereditary PH due to a germline mutation in the SDHB, SDHD, VHL, RET or NF1 gene and that the identification of a germline SDHB mutation is associated with a high risk of ..
  98. ncbi Primary duodenal follicular lymphoma: 6-years complete remission after combined radio-immunotherapy
    Pierfrancesco Franco
    Department of Medical and Surgical Sciences, Radiation Oncology Unit, University of Torino, Ospedale S Giovanni Battista, Turin, Italy
    Acta Gastroenterol Belg 74:337-42. 2011
    Primary gastrointestinal lymphoma (PGL) is known to account for 40% of all extranodal non-Hodgkin's lymphomas (NHLs) and between 4% to 12% of all NHLs...
  99. ncbi High rates of undiagnosed leprosy and subclinical infection amongst school children in the Amazon Region
    Josafá Gonçalves Barreto
    Laboratório de Dermato Imunologia, Universidade Federal do Para, Marituba, PA, Brasil
    Mem Inst Oswaldo Cruz 107:60-7. 2012
    ..6), were diagnosed with leprosy and 777 (48.8%) were seropositive for anti-phenolic glycolipid-I (PGL-I). Additionally, we evaluated 256 house-hold contacts (HHCs) of the students diagnosed with leprosy; 24 (9...
  100. doi The role of complex II in disease
    Attje S Hoekstra
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Biochim Biophys Acta 1827:543-51. 2013
    ..gene mutations, in both succinate dehydrogenase and associated accessory factor genes (SDHA, SDHB, SDHC, SDHD, SDHAF1, SDHAF2), have been identified over the last 12 years and include hereditary paraganglioma-..
  101. doi Penetrance and clinical consequences of a gross SDHB deletion in a large family
    D C Solis
    Reproductive and Adult Endocrinology Program, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1109, USA
    Clin Genet 75:354-63. 2009
    ..SDHB) are inherited in an autosomal dominant manner and are associated with hereditary paraganglioma (PGL) and pheochromocytoma. The phenotype of patients with SDHB point mutations has been previously described...

Research Grants37

  1. Molecular Basis of Familial Paraganglioma
    LOUIS JAMES MAHER; Fiscal Year: 2013
    ..Though often helpful, this analogy completely fails in the fascinating case of familial paraganglioma (PGL)...
  2. Understanding the epigenetic basis of human familial paraganglioma
    YENG FRANSOUA HER; Fiscal Year: 2013
    ..Specifically, we study familial paraganglioma (PGL), a neuroendocrine cancer, as a model that exemplifies metabolic derangement...
  3. 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...
  4. Role of Hypoxia-Induced miR-210 in Tumor Metabolism
    Mircea Ivan; Fiscal Year: 2013
    ..targets with functions in the mitochondrial electron transport: ISCU (Iron Sulfur Cluster Scaffold Homolog), SDHD (succinate dehydrogenase subunit D) and NDUFA4 (subunit of the NADH-ubiquinone oxidoreductase complex)...
  5. Modulation of Human Immunity by Mycobacterium leprae
    CLAUDIA M A MANCA; Fiscal Year: 2013
    ..Exposure of na[unreadable]ve cells to M. leprae or its cell wall phenolic glycolipid PGL-1 induces a very weak pro-inflammatory Th1 type cytokine response and the robust production of down-regulatory ..
  6. SEROLOGIC DETERMINATION OF LEPROSY IN CHIMPANZEES
    Bobby Gormus; Fiscal Year: 1992
    ..to determine the titers of IgG and IgM antibodies to Mycobacterium leprae-specific cell wall phenolic glycolipid-I (PGL-I) antigen and the mycobacterial common cell wall antigen lipoarabinomannan (LAM)...
  7. METABOLIC MAINTENANCE & GROWTH OF MYCOBACTERIUM LEPRAE
    Scott Franzblau; Fiscal Year: 1992
    ..assays: a) quantitation of intracellular adenosine triphosphate (ATP), b) incorporation of 14C-palmitate into PGL-1, c) measurement of the rate of 14CO2 released from 14C- palmitate...
  8. 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...
  9. N-Linked Protein Glycosylation: Pathways and Processes
    Barbara Imperiali; Fiscal Year: 2013
    ..the overall processes that support the hypothesis that the detailed study of the prokaryotic protein glycosylation (pgl) pathway of C...
  10. DNA Repair Capacity and Risk of Pre-malignant Lesion in Lung Epithelium
    Hua Zhao; Fiscal Year: 2009
    ..this goal, we will apply host cell reactivation (HCR) assay to quantify DRC of BPDE induced DNA adducts in plasmid pGL-3-luc in lymphocytes reflecting systemic NER capacity...
  11. Mechanisms of Metabolic Gene Mutations in Cancer
    Yue Xiong; Fiscal Year: 2013
    ..are frequently mutated in human cancer, including fumarate hydratase (FH), succinate gehygrogenase (SDHB, SDHC, SDHD and SDH5), and isocitrate dehydrogenase-1 and -2 (IDH1, IDH2)...
  12. RNA protection and decay in yeast mitochondria
    CAROL DIECKMANN; Fiscal Year: 2009
    ..Overexpression of the Cbt1 protein suppresses mRNA instability, whereas deletion of the CBT1 gene results in defective processing of precursor ..
  13. Effect of different hemodialysis modalities on hepatic CYP450 metabolism
    BRIAN SCOTT DECKER; Fiscal Year: 2013
    ..Short-daily hemodialysis (SDHD) is an emerging modality that provides two-hour hemodialysis (HD) sessions, 6 days a week...
  14. Probing the Glycan Biosynthetic Machinery of Campylobacter Jejuni.
    JERRY TROUTMAN; Fiscal Year: 2009
    ..and the potential interactions of this enzyme with other proteins in the oligosaccharide donor biosynthesis (or Pgl) pathway...
  15. 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...
  16. 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...
  17. STRUCTURE OF THE ANTIGENS OF ATYPICAL MYCOBACTERIA
    Patrick Brennan; Fiscal Year: 1980
    ..The immunogenicity of these will be examined in the hope of preparing monospecific antisera. The possibility that the PGL antigens of MAIS serovars are the products of lysogenic conversion will also be explored.
  18. Components of C. elegans P-granules and regulation of their function
    Ekaterina Voronina; Fiscal Year: 2009
    ..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...
  19. AIDS-ASSOCIATED HEART DISEASE--INCIDENCE ETIOLOGY
    Melvin Cheitlin; Fiscal Year: 1992
    ..I - HIV seropositive, asymptomatic infection Group II- Hiv seropositive, persistent generalized lymphadenopathy (PGL) Group III- Aids patients Group IV- Age-matched, clinically-well, HIV seronegative, homosexual men (controls for ..
  20. 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 ..
  21. NEUROPEPTIDES--APPROACH TO AMIDATION EFFECTORS
    SHELDON MAY; Fiscal Year: 1999
    ..The second enzyme, peptidylamidoglycolate lyase (PGL) ---first reported by our laboratory--catalyzes dealdylation of the a- hydroxyglycine derevatives to produce the ..
  22. Human T Cell Antigens of Mycobacterium tuberculosis
    Steven Reed; Fiscal Year: 2009
    ..Finally, we will test antigens/vaccine formulations in rodent models of infection and disease. By the end of the funding period, we will have defined a second vaccine candidate for entry into clinical trials. ..
  23. OXYGEN SENSING AND CELL SIGNALING IN HYPOXIA
    Paul Schumacker; Fiscal Year: 2001
    ..These studies will identify a novel pathway of cellular O2 detection, and may help clarify understanding of how cells adapt to lowered O2 conditions. ..
  24. Genetic Etiologies of Esophageal Barrett's and Cancer
    Charis Eng; Fiscal Year: 2003
    ..This might facilitate molecular diagnostics and early prediction as well as targeted surveillance and prophylaxis. ..
  25. RET RECEPTOR POLYMORPHISMS & HIRSCHSPRUNG DISEASE
    Charis Eng; Fiscal Year: 2004
    ..Finally variants found to be associated with disease status will be tested functionally at the transcript, protein and cell biological level. ..
  26. Using Synthetic Lethality to Select Cancer Drug Targets
    William Kaelin; Fiscal Year: 2005
    ..Moreover, they may establish a new paradigm for the selection of anticancer drug targets based on inactivating mutations of TSG. ..
  27. Identify Waardenburg syndrome type 2 loci in man
    JEFFREY MILUNSKY; Fiscal Year: 2005
    ..We will perform a high-density genome scan coupled with linkage disequilibrium analyses on 3 large multigenerational families and multiple smaller families with WS2 to identify candidate gene(s) with mutations causing WS2. ..
  28. Development & Manufacture of an MDR Tuberculosis Vaccine
    Steven Reed; Fiscal Year: 2005
    ..This will enable us to immediately proceed to human clinical trials after the end of the funding period. ..
  29. Identify genes causing Kabuki Syndrome
    JEFFREY MILUNSKY; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  30. O2 SENSING BY MITOCHONDRIA DURING INTERMITTENT HYPOXIA
    Paul Schumacker; Fiscal Year: 2003
    ..Collectively, these studies could identify a novel mechanism of O2 sensing in the lung, and provide a mechanistic explanation for the activation of gene transcritpion and cellular proliferation during intermittent hypoxia. ..
  31. Nitric oxide and mitochondrial biogenesis in sepsis
    Claude A Piantadosi; Fiscal Year: 2010
    ..abstract_text> ..
  32. Real-Time Imaging of Hypoxia based on VHL Activity
    William Kaelin; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  33. 2006 Cancer Model Mechanisms
    William Kaelin; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  34. Lung Injury Protection by Coagulation Blockade
    CLAUDE PIANTADOSI; Fiscal Year: 2008
    ..A successfully optimized strategy could greatly attenuate persistence of pulmonary inflammation and facilitate the resolution of human ARDS. ..
  35. O2 Sensing in Hypoxic Pulmonary Vasoconstriction
    Paul Schumacker; Fiscal Year: 2009
    ..Collectively, these studies will test whether a common O2 sensing mechanism functions in PA myocytes and endothelial cells to trigger their diverse responses in HPV. ..
  36. A Luciferase Fusion Protein Library to Identify & Monitor Ubiquitylation Targets
    William Kaelin; Fiscal Year: 2008
    ..Reisolation of HIF in aims 2 and 3 would constitute proof of concept with respect to the potential utility of this approach. ..