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<meta name="keywords" content="C1853903, decreased fumarate hydratase activity, finding, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=343007
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ConceptID=C1853903
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Decreased fumarate hydratase activity</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343007</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003536">HP:0003536</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Decreased fumarate hydratase activity</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1841674" ref="tree=MeSH" title="MedGen record for Abnormal enzyme concentration or activity">Abnormal enzyme concentration or activity</a></span><ul><li><span class="TLline"><a href="/medgen/1841554" ref="tree=MeSH" title="MedGen record for Abnormal circulating enzyme concentration or activity">Abnormal circulating enzyme concentration or activity</a></span><ul><li><span class="TLline"><a href="/medgen/867422" ref="tree=MeSH" title="MedGen record for Abnormality of Krebs cycle metabolism">Abnormality of Krebs cycle metabolism</a></span><ul><li><span class="matched_ds">Decreased fumarate hydratase activity</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_87458"><div><strong>Fumarase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87458</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342770</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes. Many affected individuals are microcephalic. A spectrum of brain abnormalities are seen on magnetic resonance imaging, including cerebral atrophy, enlarged ventricles and generous extra-axial cerebral spinal fluid (CSF) spaces, delayed myelination for age, thinning of the corpus callosum, and an abnormally small brain stem. Brain malformations including bilateral polymicrogyria and absence of the corpus callosum can also be observed. Development is severely affected: most affected individuals are nonverbal and nonambulatory, and many die during early childhood. Less severely affected individuals with moderate cognitive impairment and long-term survival have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87458">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_353771"><div><strong>Hereditary leiomyomatosis and renal cell cancer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>353771</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1708350</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma have also been described in a small number of families. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 30 years, increasing in size and number with age. Uterine leiomyomata tend to be numerous and large; age at diagnosis ranges from 18 to 53 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors are usually unilateral, solitary, and aggressive. They are associated with poor survival due to clinical aggressiveness and propensity to metastasize despite small primary tumor size. The median age of detection is approximately age 40 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/353771">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fumarase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_353771" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary leiomyomatosis and renal cell cancer</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19276158">LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie H,
|
||
Valera VA,
|
||
Merino MJ,
|
||
Amato AM,
|
||
Signoretti S,
|
||
Linehan WM,
|
||
Sukhatme VP,
|
||
Seth P</span><br />
|
||
<span class="medgenPMjournal">Mol Cancer Ther</span>
|
||
2009 Mar;8(3):626-35.
|
||
Epub 2009 Mar 10
|
||
doi: 10.1158/1535-7163.MCT-08-1049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19276158" target="_blank">19276158</a><a href="/pmc/articles/PMC2671637" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(decreased%20fumarate%20hydratase%20activity)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39397296">Targeting NAD+ Metabolism Vulnerability in FH-Deficient Hereditary Leiomyomatosis and Renal Cell Carcinoma with the Novel NAMPT Inhibitor OT-82.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Najera SS,
|
||
Ricketts CJ,
|
||
Schmidt LS,
|
||
Medina JI,
|
||
Saito K,
|
||
Ileva L,
|
||
Brender JR,
|
||
James AM,
|
||
Peer CJ,
|
||
Gouker B,
|
||
Karim BO,
|
||
Chernova O,
|
||
Wells C,
|
||
Wei MH,
|
||
Yang Y,
|
||
Zhang X,
|
||
Klumpp-Thomas C,
|
||
Travers J,
|
||
Chen L,
|
||
Wilson KM,
|
||
Issaq SH,
|
||
Figg WD,
|
||
Difilippantonio S,
|
||
Kalen JD,
|
||
Krishna MC,
|
||
Thomas CJ,
|
||
Ceribelli M,
|
||
Heske CM,
|
||
Crooks DR,
|
||
Meier JL</span><br />
|
||
<span class="medgenPMjournal">Mol Cancer Ther</span>
|
||
2025 Feb 4;24(2):200-213.
|
||
doi: 10.1158/1535-7163.MCT-24-0225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39397296" target="_blank">39397296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37561409">Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crooks DR,
|
||
Cawthon GM,
|
||
Fitzsimmons CM,
|
||
Perez M,
|
||
Ricketts CJ,
|
||
Vocke CD,
|
||
Yang Y,
|
||
Middelton L,
|
||
Nielsen D,
|
||
Schmidt LS,
|
||
Tandon M,
|
||
Merino MJ,
|
||
Ball MW,
|
||
Meier JL,
|
||
Batista PJ,
|
||
Linehan WM</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2023 Nov 3;32(22):3135-3145.
|
||
doi: 10.1093/hmg/ddad131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37561409" target="_blank">37561409</a><a href="/pmc/articles/PMC10630246" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23633457">Molecular pathways: Fumarate hydratase-deficient kidney cancer--targeting the Warburg effect in cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linehan WM,
|
||
Rouault TA</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2013 Jul 1;19(13):3345-52.
|
||
Epub 2013 Apr 30
|
||
doi: 10.1158/1078-0432.CCR-13-0304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23633457" target="_blank">23633457</a><a href="/pmc/articles/PMC4447120" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3759306">Skeletal muscle enzyme activities in healthy young subjects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berg A,
|
||
Kim SS,
|
||
Keul J</span><br />
|
||
<span class="medgenPMjournal">Int J Sports Med</span>
|
||
1986 Aug;7(4):236-9.
|
||
doi: 10.1055/s-2008-1025766.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3759306" target="_blank">3759306</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6219611">Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sorbi S,
|
||
Bird ED,
|
||
Blass JP</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1983 Jan;13(1):72-8.
|
||
doi: 10.1002/ana.410130116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6219611" target="_blank">6219611</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20fumarate%20hydratase%20activity%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39397296">Targeting NAD+ Metabolism Vulnerability in FH-Deficient Hereditary Leiomyomatosis and Renal Cell Carcinoma with the Novel NAMPT Inhibitor OT-82.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Najera SS,
|
||
Ricketts CJ,
|
||
Schmidt LS,
|
||
Medina JI,
|
||
Saito K,
|
||
Ileva L,
|
||
Brender JR,
|
||
James AM,
|
||
Peer CJ,
|
||
Gouker B,
|
||
Karim BO,
|
||
Chernova O,
|
||
Wells C,
|
||
Wei MH,
|
||
Yang Y,
|
||
Zhang X,
|
||
Klumpp-Thomas C,
|
||
Travers J,
|
||
Chen L,
|
||
Wilson KM,
|
||
Issaq SH,
|
||
Figg WD,
|
||
Difilippantonio S,
|
||
Kalen JD,
|
||
Krishna MC,
|
||
Thomas CJ,
|
||
Ceribelli M,
|
||
Heske CM,
|
||
Crooks DR,
|
||
Meier JL</span><br />
|
||
<span class="medgenPMjournal">Mol Cancer Ther</span>
|
||
2025 Feb 4;24(2):200-213.
|
||
doi: 10.1158/1535-7163.MCT-24-0225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39397296" target="_blank">39397296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31235845">Insufficient fumarase contributes to hypertension by an imbalance of redox metabolism in Dahl salt-sensitive rats.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zheng X,
|
||
Chen M,
|
||
Li X,
|
||
Yang P,
|
||
Zhao X,
|
||
Ouyang Y,
|
||
Yang Z,
|
||
Liang M,
|
||
Hou E,
|
||
Tian Z</span><br />
|
||
<span class="medgenPMjournal">Hypertens Res</span>
|
||
2019 Nov;42(11):1672-1682.
|
||
Epub 2019 Jun 24
|
||
doi: 10.1038/s41440-019-0290-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31235845" target="_blank">31235845</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22772160">Infantile metabolic encephalopathy due to fumarase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saini AG,
|
||
Singhi P</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2013 Apr;28(4):535-7.
|
||
Epub 2012 Jul 6
|
||
doi: 10.1177/0883073812447286.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22772160" target="_blank">22772160</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22248473">The relationship of thioredoxin-1 and cisplatin resistance: its impact on ROS and oxidative metabolism in lung cancer cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wangpaichitr M,
|
||
Sullivan EJ,
|
||
Theodoropoulos G,
|
||
Wu C,
|
||
You M,
|
||
Feun LG,
|
||
Lampidis TJ,
|
||
Kuo MT,
|
||
Savaraj N</span><br />
|
||
<span class="medgenPMjournal">Mol Cancer Ther</span>
|
||
2012 Mar;11(3):604-15.
|
||
Epub 2012 Jan 16
|
||
doi: 10.1158/1535-7163.MCT-11-0599.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22248473" target="_blank">22248473</a><a href="/pmc/articles/PMC3326609" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19276158">LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie H,
|
||
Valera VA,
|
||
Merino MJ,
|
||
Amato AM,
|
||
Signoretti S,
|
||
Linehan WM,
|
||
Sukhatme VP,
|
||
Seth P</span><br />
|
||
<span class="medgenPMjournal">Mol Cancer Ther</span>
|
||
2009 Mar;8(3):626-35.
|
||
Epub 2009 Mar 10
|
||
doi: 10.1158/1535-7163.MCT-08-1049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19276158" target="_blank">19276158</a><a href="/pmc/articles/PMC2671637" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20fumarate%20hydratase%20activity%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23891858">Quantitative proteomic analysis of the inhibitory effects of CIL-102 on viability and invasiveness in human glioma cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teng CC,
|
||
Kuo HC,
|
||
Sze CI</span><br />
|
||
<span class="medgenPMjournal">Toxicol Appl Pharmacol</span>
|
||
2013 Nov 1;272(3):579-90.
|
||
Epub 2013 Jul 26
|
||
doi: 10.1016/j.taap.2013.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23891858" target="_blank">23891858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23633457">Molecular pathways: Fumarate hydratase-deficient kidney cancer--targeting the Warburg effect in cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linehan WM,
|
||
Rouault TA</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2013 Jul 1;19(13):3345-52.
|
||
Epub 2013 Apr 30
|
||
doi: 10.1158/1078-0432.CCR-13-0304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23633457" target="_blank">23633457</a><a href="/pmc/articles/PMC4447120" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19276158">LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie H,
|
||
Valera VA,
|
||
Merino MJ,
|
||
Amato AM,
|
||
Signoretti S,
|
||
Linehan WM,
|
||
Sukhatme VP,
|
||
Seth P</span><br />
|
||
<span class="medgenPMjournal">Mol Cancer Ther</span>
|
||
2009 Mar;8(3):626-35.
|
||
Epub 2009 Mar 10
|
||
doi: 10.1158/1535-7163.MCT-08-1049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19276158" target="_blank">19276158</a><a href="/pmc/articles/PMC2671637" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2055281">Changes in enzyme activities in skin fibroblasts derived from persons of various ages.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shindo Y,
|
||
Akiyama J,
|
||
Yamazaki Y,
|
||
Saito K,
|
||
Takase Y</span><br />
|
||
<span class="medgenPMjournal">Exp Gerontol</span>
|
||
1991;26(1):29-35.
|
||
doi: 10.1016/0531-5565(91)90059-u.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2055281" target="_blank">2055281</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20fumarate%20hydratase%20activity%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23393310">Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Edvardson S,
|
||
Porcelli V,
|
||
Jalas C,
|
||
Soiferman D,
|
||
Kellner Y,
|
||
Shaag A,
|
||
Korman SH,
|
||
Pierri CL,
|
||
Scarcia P,
|
||
Fraenkel ND,
|
||
Segel R,
|
||
Schechter A,
|
||
Frumkin A,
|
||
Pines O,
|
||
Saada A,
|
||
Palmieri L,
|
||
Elpeleg O</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2013 Apr;50(4):240-5.
|
||
Epub 2013 Feb 7
|
||
doi: 10.1136/jmedgenet-2012-101485.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23393310" target="_blank">23393310</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20fumarate%20hydratase%20activity%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34425095">Hepatic miR-144 Drives Fumarase Activity Preventing NRF2 Activation During Obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azzimato V,
|
||
Chen P,
|
||
Barreby E,
|
||
Morgantini C,
|
||
Levi L,
|
||
Vankova A,
|
||
Jager J,
|
||
Sulen A,
|
||
Diotallevi M,
|
||
Shen JX,
|
||
Miller A,
|
||
Ellis E,
|
||
Rydén M,
|
||
Näslund E,
|
||
Thorell A,
|
||
Lauschke VM,
|
||
Channon KM,
|
||
Crabtree MJ,
|
||
Haschemi A,
|
||
Craige SM,
|
||
Mori M,
|
||
Spallotta F,
|
||
Aouadi M</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2021 Dec;161(6):1982-1997.e11.
|
||
Epub 2021 Aug 21
|
||
doi: 10.1053/j.gastro.2021.08.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34425095" target="_blank">34425095</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31963199">Synthetically Lethal Interactions of Heme Oxygenase-1 and Fumarate Hydratase Genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Podkalicka P,
|
||
Mucha O,
|
||
Kruczek S,
|
||
Biela A,
|
||
Andrysiak K,
|
||
Stępniewski J,
|
||
Mikulski M,
|
||
Gałęzowski M,
|
||
Sitarz K,
|
||
Brzózka K,
|
||
Józkowicz A,
|
||
Dulak J,
|
||
Łoboda A</span><br />
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<span class="medgenPMjournal">Biomolecules</span>
|
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2020 Jan 16;10(1)
|
||
doi: 10.3390/biom10010143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31963199" target="_blank">31963199</a><a href="/pmc/articles/PMC7023083" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28260082">Cancer-associated fibroblasts enhance pancreatic cancer cell invasion by remodeling the metabolic conversion mechanism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shan T,
|
||
Chen S,
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Chen X,
|
||
Lin WR,
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Li W,
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Ma J,
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Wu T,
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Cui X,
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Ji H,
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<span class="medgenPMjournal">Oncol Rep</span>
|
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2017 Apr;37(4):1971-1979.
|
||
Epub 2017 Feb 28
|
||
doi: 10.3892/or.2017.5479.
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<span class="bold">PMID: </span><a href="/pubmed/28260082" target="_blank">28260082</a><a href="/pmc/articles/PMC5367364" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/21273120">Staphylococcus aureus ClpC is involved in protection of carbon-metabolizing enzymes from carbonylation during stationary growth phase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chatterjee I,
|
||
Maisonneuve E,
|
||
Ezraty B,
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Herrmann M,
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Dukan S</span><br />
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<span class="medgenPMjournal">Int J Med Microbiol</span>
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||
2011 Apr;301(4):341-6.
|
||
Epub 2011 Jan 26
|
||
doi: 10.1016/j.ijmm.2010.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21273120" target="_blank">21273120</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18413815">Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayr JA,
|
||
Meierhofer D,
|
||
Zimmermann F,
|
||
Feichtinger R,
|
||
Kögler C,
|
||
Ratschek M,
|
||
Schmeller N,
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||
Sperl W,
|
||
Kofler B</span><br />
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||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2008 Apr 15;14(8):2270-5.
|
||
doi: 10.1158/1078-0432.CCR-07-4131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18413815" target="_blank">18413815</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20fumarate%20hydratase%20activity%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div></div>
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