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Article ; Online: An update on adult forms of hereditary pheochromocytomas and paragangliomas.

Dariane, Charles / Goncalves, Judith / Timsit, Marc-Olivier / Favier, Judith

2020 Volume 33, Issue 1, Page(s) 23–32

Abstract: Purpose of review: Pheochromocytomas and paragangliomas (PPGL) display a strong genetic determinism with 40% of inherited forms. The purpose of this review is to provide an update on current knowledge on adult forms of hereditary PPGL and their ... ...

Abstract	Purpose of review: Pheochromocytomas and paragangliomas (PPGL) display a strong genetic determinism with 40% of inherited forms. The purpose of this review is to provide an update on current knowledge on adult forms of hereditary PPGL and their management. Recent findings: PPGL are genetically-driven in 70% of cases, with germline and/or somatic mutations identified in more than 20 genes. Although eight new susceptibility genes have recently emerged, mutations on SDHx genes remain the most frequent. In addition to SDHB, mutations in SLC25A11, FH and MDH2 may predispose to a metastatic disease and somatic alterations including TERT and ATRX mutations, and the differential expression on noncoding RNAs are also associated with the occurrence of metastases.The biochemical diagnosis remains the mainstay of functional PPGL and does not differ between hereditary PPGL while the choice of the best nuclear imaging approach is dictated by the tumor type and can be influenced by the presence of a germline mutation (18F-DOPA PET/CT for cluster 2 mutation and Ga-DOTATATE PET/CT for cluster 1 mutation). Summary: A systematic genetic testing and counselling is recommended for all PPGL patients and should lead to conservative surgery and an adapted follow up, in case of hereditary form.
MeSH term(s)	Adrenal Gland Neoplasms/genetics ; Adrenal Gland Neoplasms/surgery ; Adrenal Gland Neoplasms/therapy ; Adult ; Genetic Testing ; Humans ; Paraganglioma/genetics ; Paraganglioma/surgery ; Paraganglioma/therapy ; Pheochromocytoma/genetics ; Pheochromocytoma/surgery ; Pheochromocytoma/therapy
Language	English
Publishing date	2020-12-01
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1049384-0
ISSN	1531-703X ; 1040-8746
ISSN (online)	1531-703X
ISSN	1040-8746
DOI	10.1097/CCO.0000000000000694
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Article: Succinate Dehydrogenase, Succinate, and Superoxides: A Genetic, Epigenetic, Metabolic, Environmental Explosive Crossroad.

Bénit, Paule / Goncalves, Judith / El Khoury, Riyad / Rak, Malgorzata / Favier, Judith / Gimenez-Roqueplo, Anne-Paule / Rustin, Pierre

Biomedicines

2022 Volume 10, Issue 8

Abstract: Research focused on succinate dehydrogenase (SDH) and its substrate, succinate, culminated in the 1950s accompanying the rapid development of research dedicated to bioenergetics and intermediary metabolism. This allowed researchers to uncover the ... ...

Abstract	Research focused on succinate dehydrogenase (SDH) and its substrate, succinate, culminated in the 1950s accompanying the rapid development of research dedicated to bioenergetics and intermediary metabolism. This allowed researchers to uncover the implication of SDH in both the mitochondrial respiratory chain and the Krebs cycle. Nowadays, this theme is experiencing a real revival following the discovery of the role of SDH and succinate in a subset of tumors and cancers in humans. The aim of this review is to enlighten the many questions yet unanswered, ranging from fundamental to clinically oriented aspects, up to the danger of the current use of SDH as a target for a subclass of pesticides.
Language	English
Publishing date	2022-07-25
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2720867-9
ISSN	2227-9059
ISSN	2227-9059
DOI	10.3390/biomedicines10081788
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Article ; Online: Emerging molecular markers of metastatic pheochromocytomas and paragangliomas.

Goncalves, Judith / Lussey-Lepoutre, Charlotte / Favier, Judith / Gimenez-Roqueplo, Anne-Paule / Castro-Vega, Luis Jaime

Annales d'endocrinologie

2019 Volume 80, Issue 3, Page(s) 159–162

Abstract: Metastatic pheochromocytoma/paraganglioma (PPGL) represents a major clinical challenge due to limitations in accurate diagnostic tools and effective treatments. Currently, patients classified at high-risk by means of clinical, biochemical and genetic ... ...

Abstract	Metastatic pheochromocytoma/paraganglioma (PPGL) represents a major clinical challenge due to limitations in accurate diagnostic tools and effective treatments. Currently, patients classified at high-risk by means of clinical, biochemical and genetic criteria, require a lifelong monitoring, while it remains difficult to determine the metastatic potential of PPGL only on the basis of histopathological features. Thus, tumor molecular markers that improve the risk stratification of these patients are needed. In the past few years, we have witnessed an unprecedented molecular characterization of PPGL, which led to the emergence of promising candidate biomarkers predictive of metastatic behavior. Here, we briefly discuss these breakthroughs and provide some insights for the prospective implementation of molecular markers of metastatic PPGL in the clinical setting in years to come.
MeSH term(s)	Adrenal Gland Neoplasms/diagnosis ; Adrenal Gland Neoplasms/genetics ; Adrenal Gland Neoplasms/therapy ; Biomarkers, Tumor ; Genetic Predisposition to Disease ; Humans ; Neoplasm Metastasis/diagnosis ; Neoplasm Metastasis/genetics ; Paraganglioma/diagnosis ; Paraganglioma/genetics ; Paraganglioma/therapy ; Pheochromocytoma/diagnosis ; Pheochromocytoma/genetics ; Pheochromocytoma/therapy ; Prognosis ; Risk Factors
Chemical Substances	Biomarkers, Tumor
Language	English
Publishing date	2019-04-11
Publishing country	France
Document type	Journal Article
ZDB-ID	299-9
ISSN	2213-3941 ; 0003-4266
ISSN (online)	2213-3941
ISSN	0003-4266
DOI	10.1016/j.ando.2019.04.003
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Article ; Online: Rodent models of pheochromocytoma, parallels in rodent and human tumorigenesis.

Lussey-Lepoutre, Charlotte / Buffet, Alexandre / Morin, Aurélie / Goncalves, Judith / Favier, Judith

Cell and tissue research

2018 Volume 372, Issue 2, Page(s) 379–392

Abstract: Paragangliomas and pheochromocytomas are rare neuroendocrine tumors characterized by a large spectrum of hereditary predisposition. Based on gene expression profiling classification, they can be classically assigned to either a hypoxic/angiogenic cluster ...

Abstract	Paragangliomas and pheochromocytomas are rare neuroendocrine tumors characterized by a large spectrum of hereditary predisposition. Based on gene expression profiling classification, they can be classically assigned to either a hypoxic/angiogenic cluster (cluster 1 including tumors with mutations in SDHx, VHL and FH genes) or a kinase-signaling cluster (cluster 2 consisting in tumors related to RET, NF1, TMEM127 and MAX genes mutations, as well as most of the sporadic tumors). The past 15 years have seen the emergence of an increasing number of genetically engineered and grafted models to investigate tumorigenesis and develop new therapeutic strategies. Among them, only cluster 2-related predisposed models have been successful but grafted models are however available to study cluster 1-related tumors. In this review, we present an overview of existing rodent models targeting predisposition genes involved or not in human pheochromocytoma/paraganglioma susceptibility and their contribution to the improvement of pheochromocytoma experimental research.
MeSH term(s)	Adrenal Gland Neoplasms/genetics ; Adrenal Gland Neoplasms/pathology ; Animals ; Carcinogenesis/genetics ; Carcinogenesis/pathology ; Disease Models, Animal ; Genetic Predisposition to Disease ; Humans ; Pheochromocytoma/genetics ; Pheochromocytoma/pathology ; Rodentia
Language	English
Publishing date	2018-02-09
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	125067-x
ISSN	1432-0878 ; 0302-766X
ISSN (online)	1432-0878
ISSN	0302-766X
DOI	10.1007/s00441-018-2797-y
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Article ; Online: TET-Mediated Hypermethylation Primes SDH-Deficient Cells for HIF2α-Driven Mesenchymal Transition.

Morin, Aurélie / Goncalves, Judith / Moog, Sophie / Castro-Vega, Luis-Jaime / Job, Sylvie / Buffet, Alexandre / Fontenille, Marie-Joséphine / Woszczyk, Justine / Gimenez-Roqueplo, Anne-Paule / Letouzé, Eric / Favier, Judith

Cell reports

2020 Volume 30, Issue 13, Page(s) 4551–4566.e7

Abstract: Loss-of-function mutations in the SDHB subunit of succinate dehydrogenase predispose patients to aggressive tumors characterized by pseudohypoxic and hypermethylator phenotypes. The mechanisms leading to DNA hypermethylation and its contribution to SDH- ... ...

Abstract	Loss-of-function mutations in the SDHB subunit of succinate dehydrogenase predispose patients to aggressive tumors characterized by pseudohypoxic and hypermethylator phenotypes. The mechanisms leading to DNA hypermethylation and its contribution to SDH-deficient cancers remain undemonstrated. We examine the genome-wide distribution of 5-methylcytosine and 5-hydroxymethylcytosine and their correlation with RNA expression in SDHB-deficient tumors and murine Sdhb
MeSH term(s)	5-Methylcytosine/analogs & derivatives ; 5-Methylcytosine/metabolism ; Adult ; Aged ; Animals ; Basic Helix-Loop-Helix Transcription Factors/metabolism ; Cell Hypoxia ; Cell Line ; Cell Line, Tumor ; DNA Methylation/genetics ; DNA-Binding Proteins/metabolism ; Female ; Gene Expression Regulation, Neoplastic ; Gene Knockdown Techniques ; Genome, Human ; Humans ; Male ; Mesoderm/metabolism ; Mice, Nude ; Middle Aged ; Mutation/genetics ; Neoplasm Metastasis ; Phenotype ; Polycomb Repressive Complex 2/metabolism ; Proto-Oncogene Proteins/metabolism ; Succinate Dehydrogenase/deficiency ; Succinate Dehydrogenase/genetics
Chemical Substances	Basic Helix-Loop-Helix Transcription Factors ; DNA-Binding Proteins ; Proto-Oncogene Proteins ; TET1 protein, mouse ; 5-hydroxymethylcytosine (1123-95-1) ; endothelial PAS domain-containing protein 1 (1B37H0967P) ; 5-Methylcytosine (6R795CQT4H) ; Tet2 protein, mouse (EC 1.13.11.-) ; Succinate Dehydrogenase (EC 1.3.99.1) ; Polycomb Repressive Complex 2 (EC 2.1.1.43)
Language	English
Publishing date	2020-03-31
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2649101-1
ISSN	2211-1247 ; 2211-1247
ISSN (online)	2211-1247
ISSN	2211-1247
DOI	10.1016/j.celrep.2020.03.022
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Article ; Online: Succinate dehydrogenase deficiency in a chromaffin cell model retains metabolic fitness through the maintenance of mitochondrial NADH oxidoreductase function.

Kľučková, Katarína / Thakker, Alpesh / Vettore, Lisa / Escribano-Gonzalez, Cristina / Hindshaw, Rebecca L / Tearle, Jacqueline L E / Goncalves, Judith / Kaul, Baksho / Lavery, Gareth G / Favier, Judith / Tennant, Daniel A

FASEB journal : official publication of the Federation of American Societies for Experimental Biology

2019 Volume 34, Issue 1, Page(s) 303–315

Abstract: Mutations in succinate dehydrogenase (SDH) lead to the development of tumors in a restricted subset of cell types, including chromaffin cells and paraganglia. The molecular basis for this specificity is currently unknown. We show that loss of SDH ... ...

Abstract	Mutations in succinate dehydrogenase (SDH) lead to the development of tumors in a restricted subset of cell types, including chromaffin cells and paraganglia. The molecular basis for this specificity is currently unknown. We show that loss of SDH activity in a chromaffin cell model does not perturb complex I function, retaining the ability to oxidize NADH within the electron transport chain. This activity supports continued oxidation of substrates within the tricarboxylic acid (TCA) cycle. However, due to the block in the TCA cycle at SDH, the high glutamine oxidation activity is only maintained through an efflux of succinate. We also show that although the mitochondria of SDH-deficient cells are less active per se, their higher mass per cell results in an overall respiratory rate that is comparable with wild-type cells. Finally, we observed that when their mitochondria are uncoupled, SDH-deficient cells are unable to preserve their viability, suggesting that the mitochondrial metabolic network is unable to compensate when exposed to additional stress. We therefore show that in contrast to models of SDH deficiency based on epithelial cells, a chromaffin cell model retains aspects of metabolic "health," which could form the basis of cell specificity of this rare tumor type.
MeSH term(s)	Animals ; Chromaffin Cells/metabolism ; Chromaffin Cells/pathology ; Electron Transport Complex I/metabolism ; Humans ; Male ; Mice ; Mice, Knockout ; Mitochondria/metabolism ; Mitochondria/pathology ; Mitochondrial Diseases/metabolism ; Mitochondrial Diseases/pathology ; Mutation ; NAD/metabolism ; Neoplasms/metabolism ; Neoplasms/pathology ; Succinate Dehydrogenase/genetics ; Succinate Dehydrogenase/metabolism ; Succinate Dehydrogenase/physiology ; Transcriptome
Chemical Substances	NAD (0U46U6E8UK) ; SDHB protein, human (EC 1.3.5.1) ; Succinate Dehydrogenase (EC 1.3.99.1) ; Electron Transport Complex I (EC 7.1.1.2)
Language	English
Publishing date	2019-11-22
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	639186-2
ISSN	1530-6860 ; 0892-6638
ISSN (online)	1530-6860
ISSN	0892-6638
DOI	10.1096/fj.201901456R
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Zs.A 2266: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Loss of SDHB Promotes Dysregulated Iron Homeostasis, Oxidative Stress, and Sensitivity to Ascorbate.

Cancer research

2021 Volume 81, Issue 13, Page(s) 3480–3494

Abstract: Succinate dehydrogenase is a key enzyme in the tricarboxylic acid cycle and the electron transport chain. All four subunits of succinate dehydrogenase are tumor suppressor genes predisposing to paraganglioma, but only mutations in the SDHB subunit are ... ...

Abstract	Succinate dehydrogenase is a key enzyme in the tricarboxylic acid cycle and the electron transport chain. All four subunits of succinate dehydrogenase are tumor suppressor genes predisposing to paraganglioma, but only mutations in the SDHB subunit are associated with increased risk of metastasis. Here we generated an
MeSH term(s)	Animals ; Antioxidants/pharmacology ; Ascorbic Acid/pharmacology ; Dioxygenases/antagonists & inhibitors ; Female ; Homeostasis ; Iron/metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mitochondria/metabolism ; Mitochondria/pathology ; Mutation ; Oxidative Stress ; Phenotype ; Reactive Oxygen Species ; Succinate Dehydrogenase/physiology
Chemical Substances	Antioxidants ; Reactive Oxygen Species ; Iron (E1UOL152H7) ; Dioxygenases (EC 1.13.11.-) ; Succinate Dehydrogenase (EC 1.3.99.1) ; Ascorbic Acid (PQ6CK8PD0R)
Language	English
Publishing date	2021-06-14
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1432-1
ISSN	1538-7445 ; 0008-5472
ISSN (online)	1538-7445
ISSN	0008-5472
DOI	10.1158/0008-5472.CAN-20-2936
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Article ; Online: Synergistic Highly Potent Targeted Drug Combinations in Different Pheochromocytoma Models Including Human Tumor Cultures.

Fankhauser, Maria / Bechmann, Nicole / Lauseker, Michael / Goncalves, Judith / Favier, Judith / Klink, Barbara / William, Doreen / Gieldon, Laura / Maurer, Julian / Spöttl, Gerald / Rank, Petra / Knösel, Thomas / Orth, Michael / Ziegler, Christian G / Aristizabal Prada, Elke Tatjana / Rubinstein, German / Fassnacht, Martin / Spitzweg, Christine / Grossman, Ashley B /

Pacak, Karel / Beuschlein, Felix / Bornstein, Stefan R / Eisenhofer, Graeme / Auernhammer, Christoph J / Reincke, Martin / Nölting, Svenja

Endocrinology

2019 Volume 160, Issue 11, Page(s) 2600–2617

Abstract: There are no officially approved therapies for metastatic pheochromocytomas apart from ultratrace 131I-metaiodbenzylguanidine therapy, which is approved only in the United States. We have, therefore, investigated the antitumor potential of molecular- ... ...

Abstract	There are no officially approved therapies for metastatic pheochromocytomas apart from ultratrace 131I-metaiodbenzylguanidine therapy, which is approved only in the United States. We have, therefore, investigated the antitumor potential of molecular-targeted approaches in murine pheochromocytoma cell lines [monocyte chemoattractant protein (MPC)/monocyte chemoattractant protein/3-(4,5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT)], immortalized mouse chromaffin Sdhb-/- cells, three-dimensional pheochromocytoma tumor models (MPC/MTT spheroids), and human pheochromocytoma primary cultures. We identified the specific phosphatidylinositol-3-kinase α inhibitor BYL719 and the mammalian target of rapamycin inhibitor everolimus as the most effective combination in all models. Single treatment with clinically relevant doses of BYL719 and everolimus significantly decreased MPC/MTT and Sdhb-/- cell viability. A targeted combination of both inhibitors synergistically reduced MPC and Sdhb-/- cell viability and showed an additive effect on MTT cells. In MPC/MTT spheroids, treatment with clinically relevant doses of BYL719 alone or in combination with everolimus was highly effective, leading to a significant shrinkage or even a complete collapse of the spheroids. We confirmed the synergism of clinically relevant doses of BYL719 plus everolimus in human pheochromocytoma primary cultures of individual patient tumors with BYL719 attenuating everolimus-induced AKT activation. We have thus established a method to assess molecular-targeted therapies in human pheochromocytoma cultures and identified a highly effective combination therapy. Our data pave the way to customized combination therapy to target individual patient tumors.
MeSH term(s)	Adrenal Gland Neoplasms/drug therapy ; Adult ; Aged ; Aged, 80 and over ; Animals ; Antineoplastic Agents/pharmacology ; Antineoplastic Agents/therapeutic use ; Antineoplastic Combined Chemotherapy Protocols ; Cell Cycle/drug effects ; Cell Line ; Drug Screening Assays, Antitumor ; Drug Synergism ; Everolimus/pharmacology ; Everolimus/therapeutic use ; Female ; Humans ; Male ; Mice ; Middle Aged ; Pheochromocytoma/drug therapy ; Primary Cell Culture ; Signal Transduction/drug effects ; Thiazoles/pharmacology ; Thiazoles/therapeutic use
Chemical Substances	Antineoplastic Agents ; Thiazoles ; Alpelisib (08W5N2C97Q) ; Everolimus (9HW64Q8G6G)
Language	English
Publishing date	2019-07-03
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	427856-2
ISSN	1945-7170 ; 0013-7227
ISSN (online)	1945-7170
ISSN	0013-7227
DOI	10.1210/en.2019-00410
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