Genomes and Genes
Gene Symbol: SDHD
Description: succinate dehydrogenase complex subunit D
Alias: CBT1, CII-4, CWS3, PGL, PGL1, QPs3, SDH4, cybS, succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial, succinate dehydrogenase complex subunit D integral membrane protein, succinate-ubiquinone oxidoreductase cytochrome b small subunit, succinate-ubiquinone reductase membrane anchor subunit
Publications284 found, 100 shown here
- Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma casesKathrin Riemann
Institute of Pathology, University of Tubingen, Wilhelmstrasse 27, 72074 Tubingen, Germany
Cancer Genet Cytogenet 150:128-35. 2004..In addition, loss of heterozygosity (LOH) on chromosome 11, mainly in 11q23 (PGL1), was observed recently...
- Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytomaJean Pierre Bayley
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
BMC Med Genet 7:1. 2006Germline 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 ..
- Superiority of fluorodeoxyglucose positron emission tomography to other functional imaging techniques in the evaluation of metastatic SDHB-associated pheochromocytoma and paragangliomaHenri 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...
- SDHA is a tumor suppressor gene causing paragangliomaNelly 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. 2010Mitochondrial 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 ..
- The endemic paraganglioma syndrome type 1: origin, spread, and clinical expressionFrancesca 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. 2012Anecdotal 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.
- Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneityE 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...
- Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defectKristin 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. 2003Hereditary 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 ..
- Mutations in SDHD, a mitochondrial complex II gene, in hereditary paragangliomaB 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...
- The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathwayA P Gimenez-Roqueplo
Département de Génétique Moléculaire, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, Paris, France
Am J Hum Genet 69:1186-97. 2001..Even though three genes (SDHD, SDHC, and SDHB), which encode three protein subunits of cytochrome b of complex II in the mitochondrial ..
- Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomasB E Baysal
Department of Psychiatry, The University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA
J Med Genet 39:178-83. 2002..Germline mutations in the mitochondrial complex II genes, SDHB, SDHC, and SDHD, cause hereditary paraganglioma (PGL).
- Germ-line mutations in nonsyndromic pheochromocytomaHartmut 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...
- Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma familiesErik 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. 2004Germline 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...
- Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutationsHartmut P H Neumann
Department of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany
JAMA 292:943-51. 2004Germline 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...
- Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paragangliomaSarah R McWhinney
Clinical Cancer Genetics Program, Comprehensive Cancer Center, Department of Molecular Genetics, The Ohio State University 420 West 12th Avenue, Suite 690 TMRF, Columbus, Ohio 43210, USA
J Clin Endocrinol Metab 89:5694-9. 2004..Germline mutations in RET; VHL; and SDHB, SDHC, and SDHD are associated with multiple endocrine neoplasia type 2, VHL, and PC/PGL, respectively...
- Genetic testing in pheochromocytoma or functional paragangliomaLaurence Amar
Universite Paris Descartes, Faculte de Medecine, France
J Clin Oncol 23:8812-8. 2005To assess the yield and the clinical value of systematic screening of susceptibility genes for patients with pheochromocytoma (pheo) or functional paraganglioma (pgl).
- Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutationPascal 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. 2008Inactivating mutations of SDHD, which is mapped to 11q23 and encodes the cybS subunit of succinate dehydrogenase, predispose to hereditary paraganglioma (PGL) and/or pheochromocytoma...
- Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromesYing 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...
- Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomasMassimo 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...
- Genetics of pheochromocytoma and paraganglioma in Spanish patientsAlberto 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...
- Genomic imprinting at a boundary element flanking the SDHD locusBora E Baysal
Department of Pathology, Yale University School of Medicine, New Haven, CT 06510, USA
Hum Mol Genet 20:4452-61. 2011Germline 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...
- Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effectPhey M Yeap
Department of Endocrinology, Western Infirmary, Glasgow G11 6NT, United Kingdom
J Clin Endocrinol Metab 96:E2009-13. 2011Pheochromocytoma/paraganglioma occurs almost exclusively after paternal transmission of succinate dehydrogenase D (SDHD) mutations...
- Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidationWanfeng Yu
Genomic Medicine Institute, Learner Research Institute
Hum Mol Genet 24:142-53. 2015..mutations in the PTEN tumor-suppressor gene and germline variations in succinate dehydrogenase subunit D gene (SDHD-G12S, SDHD-H50R) are associated with a subset of Cowden syndrome and Cowden syndrome-like individuals (CS/CSL) and ..
- Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD geneP 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 ..
- Germline succinate dehydrogenase subunit D mutation segregating with familial non-RET C cell hyperplasiaJorge 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-..
- Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinomaAlberto 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...
- No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinomaM Montani
Institute for Clinical Pathology, Department of Pathology, University Hospital Zurich, Switzerland
Endocr Relat Cancer 12:1011-6. 2005Germline mutations of the three succinate dehydrogenase subunits SDHB, SDHC and SDHD have recently been associated with familial pheochromocytoma and paraganglioma...
- Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experienceE 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)...
- Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytomaGoswin 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...
- Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomasJens Waldmann
Department of Surgery, University Hospital Giessen and Marburg, Baldingerstrasse, Marburg 35037, Germany
Endocrine 35:347-55. 2009The 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...
- Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductaseH 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. 1999We 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...
- The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiencyJean 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. 2005The 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...
- An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysisFrancien 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...
- Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneityAlexandre Persu
Cardiology Unit, Cliniques Universitaires Saint Luc, Universite Catholique de Louvain, Brussels, Belgium
J Hypertens 27:76-82. 2009Mutations 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.
- Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesisErik 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...
- The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomasNelly 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...
- L157X nonsense mutation of the succinate dehydrogenase subunit B gene in a Japanese patient with right paraaortic paragangliomaHaruhiro 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)...
- [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.
- Resolution and reconstitution of succinate-ubiquinone reductase from Escherichia coliX 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...
- Expression of mRNAs for succinate dehydrogenase subunits and related genes in pheochromocytomaKazumasa 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 ..
- Two hydrophobic subunits are essential for the heme b ligation and functional assembly of complex II (succinate-ubiquinone oxidoreductase) from Escherichia coliK 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...
- Phase II study of high-dose [131I]metaiodobenzylguanidine therapy for patients with metastatic pheochromocytoma and paragangliomaSara 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. 2009To evaluate the safety and efficacy of high-dose [(131)I]metaiodobenzylguanidine ([(131)I]MIBG) in the treatment of malignant pheochromocytoma (PHEO) and paraganglioma (PGL).
- The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patientsJean Pierre Bayley
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
BMC Med Genet 10:34. 2009Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma...
- The quinone binding site in Escherichia coli succinate dehydrogenase is required for electron transfer to the heme bQuang 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...
- Succinate dehydrogenase gene arrangement and expression in Anaplasma phagocytophilumRobert 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...
- A recurrent stop-codon mutation in succinate dehydrogenase subunit B gene in normal peripheral blood and childhood T-cell acute leukemiaBora 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 ..
- Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHABora 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 ..
- Ubiquinone-binding site mutations in the Saccharomyces cerevisiae succinate dehydrogenase generate superoxide and lead to the accumulation of succinateSamuel 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 ..
- Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutationsJaume 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. 2006Paraganglioma (PGL) and phaeochromocytoma (PCC) are chemotherapy and radiation-resistant neuroendocrine tumors that arise from sympathetic tissue, and rarely occur in children...
- Comparison of 18F-fluoro-L-DOPA, 18F-fluoro-deoxyglucose, and 18F-fluorodopamine PET and 123I-MIBG scintigraphy in the localization of pheochromocytoma and paragangliomaHenri 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-..
- Proportion of heritable paraganglioma cases and associated clinical characteristicsC M Drovdlic
Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, PA, USA
Laryngoscope 111:1822-7. 2001To determine the heritable proportion of paraganglioma (PGL) and identify clinical features associated with heritable PGL.
- Isolation and characterization of the Saccharomyces cerevisiae SDH4 gene encoding a membrane anchor subunit of succinate dehydrogenaseB 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...
- 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 hypoxiaJosé 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. 2004The SDHD gene encodes one of the two membrane-anchoring proteins of the succinate dehydrogenase (complex II) of the mitochondrial electron transport chain...
- Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomasSimone Braun
Institute of Anthropology and Human Genetics, Division of Molecular Genetics, University of Tubingen, Germany
Anticancer Res 25:2809-14. 2005Paragangliomas 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.
- The Cth2 ARE-binding protein recruits the Dhh1 helicase to promote the decay of succinate dehydrogenase SDH4 mRNA in response to iron deficiencyElisa 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...
- Evolving concepts in the management of jugular paraganglioma: a comparison of radiotherapy and surgery in 88 casesPatrice Tran Ba Huy
Hopital Lariboisiere, Service ORL, Universite Paris 7, Paris, France
Skull Base 19:83-91. 2009Surgery 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...
- Genomic imprinting and environment in hereditary paragangliomaBora 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)...
- Familial nonsyndromic pheochromocytomaGiuseppe 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...
- A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paragangliomaS 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. 2010Pheochromocytomas and paragangliomas (PHEO/PGL) are neuroendocrine tumors that arise from sympathetic and parasympathetic paraganglia...
- Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB geneYohmi 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...
- Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomasFrancesca 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 ..
- Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from AustriaAndreas 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-..
- Childhood phaeochromocytoma and paraganglioma: 100% incidence of genetic mutations and 100% survivalPhilip 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.
- Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromesAnthony 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...
- Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patientsM 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...
- Clinical features of paraganglioma syndromesCarsten 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 ..
- Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytomaJean 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 ..
- No evidence for involvement of SDHD in neuroblastoma pathogenesisKatleen 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 ..
- SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytomaJean Pierre Bayley
Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
Lancet Oncol 11:366-72. 2010Paragangliomas and phaeochromocytomas are neuroendocrine tumours associated frequently with germline mutations of SDHD, SDHC, and SDHB...
- 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. 2006Thirty 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...
- Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mysteryR Neil Schimke
Department of Medicine, Kansas University School of Medicine, Kansas City, Kansas 66160, USA
Am J Med Genet A 152:1531-5. 2010Familial 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 ..
- Mutation of the heme axial ligand of Escherichia coli succinate-quinone reductase: implications for heme ligation in mitochondrial complex II from yeastElena 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...
- Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytomaG 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...
- Retention of heme in axial ligand mutants of succinate-ubiquinone xxidoreductase (complex II) from Escherichia coliE 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...
- Structure of 3-deoxy-d-arabino-heptulosonate-7-phosphate synthase from Escherichia coli: comparison of the Mn(2+)*2-phosphoglycolate and the Pb(2+)*2-phosphoenolpyruvate complexes and implications for catalysisT Wagner
Department of Biology, University of Virginia, Charlottesville, VA 22903 2477, USA
J Mol Biol 301:389-99. 2000..synthase (DAHPS) from Escherichia coli in complex with Mn(2+) and the substrate analog, 2-phosphoglycolate (PGL), was determined by molecular replacement using X-ray diffraction data to 2.0 A resolution...
- Regulation of lordosis by cyclic 3',5'-guanosine monophosphate, progesterone, and its 5alpha-reduced metabolites involves mitogen-activated protein kinaseOscar Gonzalez-Flores
Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York 10461, USA
Endocrinology 145:5560-7. 2004..A-reduced metabolites of P, 5alpha-dihydroprogesterone (5alpha-DHP) and 5alpha,3alpha-pregnanolone (5alpha,3alpha-Pgl), was also assessed...
- Molecular cloning and analysis of the human PCAN1 (GDEP) promoterWenwen Liu
Institute of Biochemistry and Molecular Biology, School of Medicine, Shandong University, Jinan, 250012, China
Cell Mol Biol Lett 12:482-92. 2007..Its promoter activity was examined via the dual-luciferase reporter assay after it had been cloned into a pGL(3)-basic vector generating pGL(3)-p2.6 kb and transfected into LNCaP cells...
- Effect of alpha-synuclein on the promoter activity of tyrosine hydroxylase geneNan Gao
Department of Neurobiology, Beijing Institute of Geriatrics, Xuanwu Hospital of Capital University of Medical Sciences, Beijing 100053, China
Neurosci Bull 23:53-7. 2007..To approach the associated mechanism by which alpha-synuclein (alpha-Syn) might regulate the metabolism of dopamine...
- Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2Carsten C Boedeker
Department of Otorhinolaryngology, Albert Ludwigs University, Freiburg D 79106, Germany
J Clin Endocrinol Metab 94:1938-44. 2009..as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC, or SDHD (SDHx) genes...
- A mutation of cdc-25.1 causes defects in germ cells but not in somatic tissues in C. elegansJiyoung Kim
Department of Bioscience and Biotechnology, Bio Molecular Informatics Center, Konkuk University, Seoul 143 701, Korea
Mol Cells 28:43-8. 2009..We analyzed cell division of germ cells and somatic tissues in bn115 homozygotes with germline-specific anti-PGL-1 immunofluorescence and GFP transgenes that express in intestinal cells, in distal tip cells, and in gonadal ..
- Enhancement of cell viability and alkaline polygalacturonate lyase production by sorbitol co-feeding with methanol in Pichia pastoris fermentationZhihao Wang
Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, Wuxi, 214122 Jiangsu, China
Bioresour Technol 101:1318-23. 2010Alkaline polygalacturonate lyase (PGL) production by Pichia pastoris GS115 was used as a model to study the mechanism and strategy for enhancing heterologous protein production...
- Phaeochromocytoma: state-of-the-artJ E Donckier
Services of Endocrinology, University Hospital of Mont Godinne, Universite Catholique de Louvain, Yvoir, Belgium
Acta Chir Belg 110:140-8. 2010..have suggested that 25% of patients with phaeochromocytoma have germline mutations of several genes (NF1, VHL, SDHD, SDHB and RET)...
- An N-terminal truncated carboxypeptidase E splice isoform induces tumor growth and is a biomarker for predicting future metastasis in human cancersTerence K Lee
Department of Surgery, University of Hong Kong, Pokfulam, Hong Kong, China
J Clin Invest 121:880-92. 2011..Thus, CPE-ΔN induces tumor metastasis and should be investigated as a potentially powerful biomarker for predicting future metastasis and recurrence in HCC and PHEO/PGL patients.
- The metabolic basis of kidney cancerW Marston Linehan
Urologic Oncology Branch, National Cancer Institute, Bethesda, MD, United States
Semin Cancer Biol 23:46-55. 2013..TSC1, TSC2, TFE3, TFEB, MITF, fumarate hydratase (FH), succinate dehydrogenase B (SDHB), succinate dehydrogenase D (SDHD), and PTEN genes is involved in the cells ability to sense oxygen, iron, nutrients or energy...
- Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencingMin Cao
Laboratory of Endocrinology and Metabolism, Institute of Health Sciences, Shanghai Institutes for Biological Sciences SIBS, Chinese Academy of Sciences CAS and Shanghai Jiao Tong University School of Medicine SJTUSM, 225 South Chongqing Road, Shanghai 200025, PR China
Gene 526:164-9. 2013..After excluding mutations in ten PCC/PGL susceptibility genes by Sanger sequencing, we used whole exome sequencing for screening on the four family members ..
- Differences between the succinate dehydrogenase sequences of isopyrazam sensitive Zymoseptoria tritici and insensitive Fusarium graminearum strainsTiphaine Dubos
Centre de Recherche Public Gabriel Lippmann, Département Environnement et Agro biotechnologies, 41 rue du Brill, L 4422 Belvaux, Luxembourg
Pestic Biochem Physiol 105:28-35. 2013..tritici group with significantly higher EC50 values that were not related to mutations in the sdhB, sdhC, or sdhD were detected. The role of isopyrazam for the control of F. graminearum and Z. tritici in Luxembourg is discussed.
- Usefulness of Succinate dehydrogenase B (SDHB) immunohistochemistry in guiding mutational screening among patients with pheochromocytoma-paraganglioma syndromesRekha Pai
Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India
APMIS 122:1130-5. 2014..SDHB antibody expression was negative among three cases each, with SDHB and SDHD mutations...
- A metabolic phenotype based on mitochondrial ribosomal protein expression as a predictor of lymph node metastasis in papillary thyroid carcinomaJandee Lee
From the Department of Surgery JL, M YS, CRL, S WK, JJJ, K HN, WYC and the Department of Internal Medicine SJ, CRK, DYS, EJL, YSJ, Severance Hospital, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, Korea
Medicine (Baltimore) 94:e380. 2015..267, 95% confidence interval 1.852-46.371, P = 0.007). MRPL44 expression may be a representative marker of metabolic phenotype according to OxPhos amount and a useful predictor of LNM...
- Tiger Swallowtail Genome Reveals Mechanisms for Speciation and Caterpillar Chemical DefenseQian Cong
Department of Biophysics and Biochemistry, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390 8816, USA
Cell Rep . 2015..Here, we report the 376 Mb genome sequence of Papilio glaucus (Pgl), the first sequenced genome from the Papilionidae family...
- Could Mycobacterium leprae Infection Be an Occupational Disease? A Survey in Healthcare Workers From an Endemic Area in the Amazonian RegionSara Eleny Pacheco
1Universidade do Estado do Amazonas Pós Graduação em Medicina Tropical, Manaus, Amazonas, Brazil
Infect Control Hosp Epidemiol 36:1464-6. 2015..Of 280 workers, 26 (9.3%) were positive using immunoglobulin M serology for PGL-I M. leprae antigen...
- A Balanced Tissue Composition Reveals New Metabolic and Gene Expression Markers in Prostate CancerMay Britt Tessem
St Olavs Hospital, Trondheim University Hospital, Trondheim, Norway
PLoS ONE 11:e0153727. 2016..genes promoting fatty acid synthesis, and increased succinate levels coincide with reduced expression of SUCLA2 and SDHD. In addition, the strategy also highlights important metabolic differences between the stroma, epithelium and ..
- Expression profile of Rab5, Rab7, tryptophan aspartate-containing coat protein, leprae lipoarabinomannan, and phenolic glycolipid-1 on the failure of the phagolysosome process in macrophages of leprosy patients as a viability marker of Mycobacterium lepraCita Rosita Sigit Prakoeswa
Department of Dermatology and Venereology, Faculty of Medicine, Universitas Airlangga, Dr Soetomo Teaching Hospital, Surabaya, Indonesia Electronic address
Int J Mycobacteriol 5:155-63. 2016..coat protein (TACO) from host macrophage and leprae lipoarabinomannan (Lep-LAM) and phenolic glycolipid-1 (PGL-1) from M...
- A pediatric malignant paraganglioma and brief review of the literatureJinhua Zi
Department of Nuclear Medicine, Shaanxi Provincial People s Hospital, Affiliated to School of Medicine, Xian Jiaotong University, Xian, Shaanxi, China
Hell J Nucl Med 19:281-284. 2016..9) with a central 18F-FDG uptake defect. Subsequently, left adrenalectomy was successfully performed. Histological examination showed that the tumor was a paraganglioma (PGL) with low-grade malignancy.
- Serodiagnosis of Hansen's disease/leprosy by enzyme-linked immunosorbent assay using cord factor (trehalose 6,6'-dimycolate) as an antigenL Wang
Department of Bacteriology, Osaka City University Medical School, Japan
Nihon Hansenbyo Gakkai Zasshi 68:165-74. 1999..The sensitivity and specificity of anti-cord factor ELISA were higher than those of anti-phenolic glycolipid-I (PGL-I) agglutination test...
- Analysis of the zwf-pgl-eda-operon in Pseudomonas putida strains H and KT2440Lothar Petruschka
Ernst Moritz Arndt Universitat Greifswald, Institut fur Mikrobiologie, Lehrstuhl fur Genetik, 17487, Greifswald, Germany
FEMS Microbiol Lett 215:89-95. 2002A 3.9-kb fragment of the genome of Pseudomonas putida H, containing the complete zwf-pgl-eda-operon, encoding glucose 6-phosphate dehydrogenase, 6-phosphogluconolactonase and 2-keto-3-deoxy-6-phosphogluconate-aldolase, respectively, and ..
- Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomasDiana 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 ..
- Combination of high-fat diet-fed and low-dose streptozotocin-treated rat: a model for type 2 diabetes and pharmacological screeningK Srinivasan
Department of Pharmacology and Toxicology, National Institute of Pharmaceutical Education and Research NIPER, Sector 67, Phase X, S A S Nagar, Mohali 160 062, Punjab, India
Pharmacol Res 52:313-20. 2005..The HFD-fed rats exhibited significant increase in body weight, basal plasma glucose (PGL), insulin (PI), triglycerides (PTG) and total cholesterol (PTC) levels as compared to NPD-fed control rats...
- Salivary anti-PGL IgM and IgA titers and serum antibody IgG titers and avidities in leprosy patients and their correlation with time of infection and antigen exposureAparecida T Nagao-Dias
Department of Clinical Analysis and Toxicology, Faculty of Pharmacy, Federal University of Ceara, Rua Capitão Francisco Pedro 1210, 60430 370 Fortaleza, CE, Brazil
Braz J Infect Dis 11:215-9. 2007..Anti-PGL-1 IgA and IgM salivary antibodies were significantly higher in multibacillar (MB-L) patients compared to normal ..
- Polychlorinated biphenyls (PCBs) in the atmosphere of sub-alpine northern ItalyJ Castro-Jiménez
European Commission Joint Research Centre, Institute for Environment and Sustainability, Via Enrico Fermi 2749, Ispra 21027, VA, Italy
Environ Pollut 157:1024-32. 2009..Modeling calculations suggest a predominant importance of the wet deposition in this region (1 microgm(-2)yr(-1) Sigma 7PCBs yearly total wet deposition flux; 650-2400 pgL(-1) rainwater concentrations).
- Influential factors associated with biotinylated disulfide containing PEI/avidin bioconjugate mediated gene delivery in HepG2 cellsXuan Zeng
Key Laboratory of Biomedical Polymers of Ministry of Education and Department of Chemistry, Wuhan University, Wuhan 430072, P R China
Mol Biosyst 6:1933-40. 2010..The transfection ability of ABP-SS/pGL-3 complexes formed in deionized water was much weaker than that formed in 150 mM NaCl solution...
- Actinomyces naturae sp. nov., the first Actinomyces sp. isolated from a non-human or animal sourceJyoti U Rao
Department of Civil and Environmental Engineering, Louisiana State University, Baton Rouge, LA 70803, USA
Antonie Van Leeuwenhoek 101:155-68. 2012..found to include diphosphatidylglycerol (DPG), phosphatidylglycerol (PG), phospholipid (PL), phosphoglycolipids (PGL), and glycolipids (GL)...
- Src kinase signaling mediates estrous behavior induced by 5β-reduced progestins, GnRH, prostaglandin E2 and vaginocervical stimulation in estrogen-primed ratsFrancisco J Lima-Hernández
Centro de Investigacion en Reproduccion Animal, Universidad Autónoma de Tlaxcala CINVESTAV, Mexico
Horm Behav 62:579-84. 2012..in estradiol benzoate (E(2)B)-primed rats by 5β-dihydroprogesterone (5β-DHP), 5β-pregnan-3β-ol-20-one (5β,3β-Pgl), GnRH, PGE(2) and by manual flank/vaginocervical stimulation...
- LOUIS JAMES MAHER; Fiscal Year: 2016..Though often helpful, this analogy completely fails in the fascinating case of familial paraganglioma (PGL)...
- YENG FRANSOUA HER; Fiscal Year: 2015..Specifically, we study familial paraganglioma (PGL), a neuroendocrine cancer, as a model that exemplifies metabolic derangement...
- Epigenetic Regulation of Mitochondiral Complex IIGerald 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...
- Mircea Ivan; Fiscal Year: 2015..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)...
- Modulation of Human Immunity by Mycobacterium lepraeCLAUDIA 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 ..
- SEROLOGIC DETERMINATION OF LEPROSY IN CHIMPANZEESBobby 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)...
- METABOLIC MAINTENANCE & GROWTH OF MYCOBACTERIUM LEPRAEScott 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...
- Mycobacterial PDIM/PGL: synthesis pathway and inhibitionLUIS E QUADRI; Fiscal Year: 2010..studies will investigated several hypothesized steps in DPK synthesis and explore the development of a first PGL synthesis inhibitor...
- Barbara Imperiali; Fiscal Year: 2015..the overall processes that support the hypothesis that the detailed study of the prokaryotic protein glycosylation (pgl) pathway of C...
- DNA Repair Capacity and Risk of Pre-malignant Lesion in Lung EpitheliumHua 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...
- Yue Xiong; Fiscal Year: 2016..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)...
- RNA protection and decay in yeast mitochondriaCAROL DIECKMANN; Fiscal Year: 2009..Overexpression of the Cbt1 protein suppresses mRNA instability, whereas deletion of the CBT1 gene results in defective processing of precursor ..
- BRIAN SCOTT DECKER; Fiscal Year: 2014..Short-daily hemodialysis (SDHD) is an emerging modality that provides two-hour hemodialysis (HD) sessions, 6 days a week...
- 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...
- Expression of Human Therapeutic Proteins in Transgenic Tobacco ChloroplastsHenry Daniell; Fiscal Year: 2010..functional, and structural studies;e) Create a chloroplast capable of glycosylation of a foreign protein using the pgl operon...
- BRAIN TARGETING OF THYROTROPIN RELEASING HORMONE ANALOGSLaszlo Prokai; Fiscal Year: 2002..be improved by using alpha-hydroxyglycine to achieve carboxy-terminal amidation via peptidylamidoglycolate lyase (PGL, EC 4.3.2...
- STRUCTURE OF THE ANTIGENS OF ATYPICAL MYCOBACTERIAPatrick 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.
- Components of C. elegans P-granules and regulation of their functionEkaterina 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...
- AIDS-ASSOCIATED HEART DISEASE--INCIDENCE ETIOLOGYMelvin 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 ..
- Host-Pathogen Interactions and M.tb Drug ResistanceGilla Kaplan; Fiscal Year: 2009..tuberculosis phenol glycolipid (PGL-tb), which induces a host immune response that fails to control bacillary growth efficiently, is therefore ..
- NEUROPEPTIDES--APPROACH TO AMIDATION EFFECTORSSHELDON 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 ..
- O2 Sensing in Hypoxic Pulmonary VasoconstrictionPaul 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. ..
- Human T Cell Antigens of Mycobacterium tuberculosisSteven 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. ..
- A Luciferase Fusion Protein Library to Identify & Monitor Ubiquitylation TargetsWilliam 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. ..
- Lung Injury Protection by Coagulation BlockadeCLAUDE PIANTADOSI; Fiscal Year: 2008..A successfully optimized strategy could greatly attenuate persistence of pulmonary inflammation and facilitate the resolution of human ARDS. ..
- Nitric oxide and mitochondrial biogenesis in sepsisClaude A Piantadosi; Fiscal Year: 2010..abstract_text> ..
- 2006 Cancer Model MechanismsWilliam Kaelin; Fiscal Year: 2006..unreadable] [unreadable] [unreadable] [unreadable]..
- Real-Time Imaging of Hypoxia based on VHL ActivityWilliam Kaelin; Fiscal Year: 2006..unreadable] [unreadable]..
- O2 SENSING BY MITOCHONDRIA DURING INTERMITTENT HYPOXIAPaul 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. ..
- Identify genes causing Kabuki SyndromeJEFFREY MILUNSKY; Fiscal Year: 2006..unreadable] [unreadable] [unreadable]..
- Development & Manufacture of an MDR Tuberculosis VaccineSteven Reed; Fiscal Year: 2005..This will enable us to immediately proceed to human clinical trials after the end of the funding period. ..
- Identify Waardenburg syndrome type 2 loci in manJEFFREY 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. ..
- Using Synthetic Lethality to Select Cancer Drug TargetsWilliam Kaelin; Fiscal Year: 2005..Moreover, they may establish a new paradigm for the selection of anticancer drug targets based on inactivating mutations of TSG. ..
- RET RECEPTOR POLYMORPHISMS & HIRSCHSPRUNG DISEASECharis 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. ..
- Genetic Etiologies of Esophageal Barrett's and CancerCharis Eng; Fiscal Year: 2003..This might facilitate molecular diagnostics and early prediction as well as targeted surveillance and prophylaxis. ..
- OXYGEN SENSING AND CELL SIGNALING IN HYPOXIAPaul 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. ..