Progeria-associated lipodystrophy (Homo sapiens)

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813, 171911685, 174613, 1711113, 17713, 17119xConversionCatalysisStimulationOxidative lesionsMetaboliteGene/proteinTranscriptionBindingDNA damage repairInhibitionGrowth arrestApoptosisCell migrationetc.Progeria diseaseHutchinson-Gilford Progeria SyndromeWerner syndromePPARGPARP1SMAD2MDP syndromeMandibuloacraldysplasiaSMAD4Progeroid features-hepatocellular carcinoma predisposition syndrome SMAD3Nestor-Guillermo progeria syndromeMarfan syndromeRECQLLamin ATGFB1Keppen-Lubinskysyndrome3, 14, 155, 1714, 1514, 151214, 15714, 1514, 15414, 15Structural support inconncective tissueK+ influxDNA replication and repairProgeria Associated LipodystrophyGlucose homeostasisFBN1DPCBANF1SPRTNAsprosinPOLD1Fibrillin-1KCNJ6GPCRWRNInsulin16DNA replicationRNA transcriptionCell cycle regulationMehcanical supportetc.1810, 181818141818182LMNB118FarnesylLMNB221411, 14Nuclear Laminanon-matured Lamin APrelamin-A/CPrelamin-A/CZMPSTE24CAAXFNTAFarnesyl-L-cysteineICMTLMNAPrelamin-A/CCAAXPrelamin-A/CFarnesyl-L-cysteineZMPSTE24MFarnesyl-L-cysteineM1818SMAD3SMAD2SMAD4BANF1PARP1MethylatioinMMutationsLegendLamin ALamin B2Lamin B13, 14, 15xx


Progeroid syndromes are a group of diseases that cause premature aging in the affected. In this pathway, the progeroid diseases, which also show lipodystrophy in the affected, are in red and linked to these are the genes that are mutated for these diseases. These genes are specifically linked to lipodystrophy.

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  1. Bolderson E, Burgess JT, Li J, Gandhi NS, Boucher D, Croft LV, Beard S, Plowman JJ, Suraweera A, Adams MN, Naqi A, Zhang SD, Sinclair DA, O'Byrne KJ, Richard DJ; ''Barrier-to-autointegration factor 1 (Banf1) regulates poly [ADP-ribose] polymerase 1 (PARP1) activity following oxidative DNA damage.''; Nat Commun, 2019 PubMed Europe PMC Scholia
  2. Dittmer TA, Misteli T; ''The lamin protein family.''; Genome Biol, 2011 PubMed Europe PMC Scholia
  3. Agarwal AK, Kazachkova I, Ten S, Garg A; ''Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation.''; J Clin Endocrinol Metab, 2008 PubMed Europe PMC Scholia
  4. Oshima J, Sidorova JM, Monnat RJ Jr; ''Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions.''; Ageing Res Rev, 2017 PubMed Europe PMC Scholia
  5. Sakai LY, Keene DR, Renard M, De Backer J; ''FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.''; Gene, 2016 PubMed Europe PMC Scholia
  6. Vaz B, Popovic M, Newman JA, Fielden J, Aitkenhead H, Halder S, Singh AN, Vendrell I, Fischer R, Torrecilla I, Drobnitzky N, Freire R, Amor DJ, Lockhart PJ, Kessler BM, McKenna GW, Gileadi O, Ramadan K; ''Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair.''; Mol Cell, 2016 PubMed Europe PMC Scholia
  7. Yuan M, Li W, Zhu Y, Yu B, Wu J; ''Asprosin: A Novel Player in Metabolic Diseases.''; Front Endocrinol (Lausanne), 2020 PubMed Europe PMC Scholia
  8. Masotti A, Uva P, Davis-Keppen L, Basel-Vanagaite L, Cohen L, Pisaneschi E, Celluzzi A, Bencivenga P, Fang M, Tian M, Xu X, Cappa M, Dallapiccola B; ''Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.''; Am J Hum Genet, 2015 PubMed Europe PMC Scholia
  9. Thien A, Prentzell MT, Holzwarth B, Kläsener K, Kuper I, Boehlke C, Sonntag AG, Ruf S, Maerz L, Nitschke R, Grellscheid SN, Reth M, Walz G, Baumeister R, Neumann-Haefelin E, Thedieck K; ''TSC1 activates TGF-β-Smad2/3 signaling in growth arrest and epithelial-to-mesenchymal transition.''; Dev Cell, 2015 PubMed Europe PMC Scholia
  10. Gao J, Liao J, Yang GY; ''CAAX-box protein, prenylation process and carcinogenesis.''; Am J Transl Res, 2009 PubMed Europe PMC Scholia
  11. Broekema MF, Savage DB, Monajemi H, Kalkhoven E; ''Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.''; Biochim Biophys Acta Mol Cell Biol Lipids, 2019 PubMed Europe PMC Scholia
  12. Nicolas E, Golemis EA, Arora S; ''POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies.''; Gene, 2016 PubMed Europe PMC Scholia
  13. Zhang YG, Singhal M, Lin Z, Manzella C, Kumar A, Alrefai WA, Dudeja PK, Saksena S, Sun J, Gill RK; ''Infection with enteric pathogens Salmonella typhimurium and Citrobacter rodentium modulate TGF-beta/Smad signaling pathways in the intestine.''; Gut Microbes, 2018 PubMed Europe PMC Scholia
  14. Akinci B, Sahinoz M, Oral E; ''Lipodystrophy Syndromes: Presentation and Treatment''; , 2000 PubMed Europe PMC Scholia
  15. Lightbourne M, Brown RJ; ''Genetics of Lipodystrophy.''; Endocrinol Metab Clin North Am, 2017 PubMed Europe PMC Scholia
  16. Gruenbaum Y, Goldman RD, Meyuhas R, Mills E, Margalit A, Fridkin A, Dayani Y, Prokocimer M, Enosh A; ''The nuclear lamina and its functions in the nucleus.''; Int Rev Cytol, 2003 PubMed Europe PMC Scholia
  17. Coelho SG, Almeida AG; ''Marfan syndrome revisited: From genetics to the clinic.''; Rev Port Cardiol, 2020 PubMed Europe PMC Scholia
  18. Cox LS, Faragher RG; ''From old organisms to new molecules: integrative biology and therapeutic targets in accelerated human ageing.''; Cell Mol Life Sci, 2007 PubMed Europe PMC Scholia
  19. Sakura H, Bond C, Warren-Perry M, Horsley S, Kearney L, Tucker S, Adelman J, Turner R, Ashcroft FM; ''Characterization and variation of ahuman inwardly-rectifying-K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit.''; FEBS Lett, 1995 PubMed Europe PMC Scholia


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119170view06:28, 20 June 2021MaintBotNot mim-conversion's
119143view10:30, 18 June 2021UlasBabayigitCorrected arrows into craphical lines.
119142view10:29, 18 June 2021UlasBabayigitCorrected arrows into craphical lines.
119141view10:28, 18 June 2021UlasBabayigitCorrected arrows into craphical lines.
119140view10:26, 18 June 2021UlasBabayigitCorrected arrows into craphical lines.
119139view10:25, 18 June 2021UlasBabayigitCorrected arrows into craphical lines.
119138view10:23, 18 June 2021UlasBabayigitCorrected arrows into craphical lines.
118635view11:33, 31 May 2021FehrhartOntology Term : 'lipodystrophy' added !
118633view11:25, 31 May 2021FehrhartOntology Term : 'PW:0000001' removed !
118632view11:25, 31 May 2021FehrhartOntology Term : 'disease pathway' added !
117977view11:16, 23 May 2021EweitzOntology Term : 'DOID:4' removed !
117974view11:04, 23 May 2021EweitzModified title
117142view09:39, 18 May 2021UlasBabayigitRemoved incorrect farnesyl node
117138view09:31, 18 May 2021UlasBabayigitCorrected nodes
117128view08:47, 18 May 2021UlasBabayigitCorrected legend
117127view08:44, 18 May 2021UlasBabayigitModified description
117126view08:35, 18 May 2021UlasBabayigitOntology Term : 'Werner syndrome' added !
117125view08:35, 18 May 2021UlasBabayigitOntology Term : 'progeria' added !
117124view08:33, 18 May 2021UlasBabayigitCorrected Keppen-Lubinsky node
117123view08:29, 18 May 2021UlasBabayigitOntology Term : 'Disease' added !
117122view08:29, 18 May 2021UlasBabayigitOntology Term : 'Pathway Ontology' added !
117121view08:27, 18 May 2021UlasBabayigitChanged ZMPSTE24 cleaving and legend
117089view06:46, 17 May 2021UlasBabayigitNew pathway

External references


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NameTypeDatabase referenceComment
AsprosinProteinP35555 (Uniprot-TrEMBL)
BANF1GeneProductENSG00000175334 (Ensembl)
CAAXMetaboliteCHEBI:15356 (ChEBI)
DPCGeneProductENSG00000168631 (Ensembl) DNA-protein cross-links
FBN1GeneProductENSG00000166147 (Ensembl)
FNTAGeneProductENSG00000168522 (Ensembl)
Farnesyl-L-cysteineMetaboliteCHEBI:86019 (ChEBI)
FarnesylMetaboliteCHEBI:86019 (ChEBI)
Fibrillin-1ProteinF6U495 (Uniprot-TrEMBL)
GPCRProteinA0A0K0PUW7 (Uniprot-TrEMBL)
Hutchinson-Gilford Progeria SyndromeQ213098 (Wikidata)
ICMTGeneProductENSG00000116237 (Ensembl)
InsulinProteinA6XGL2 (Uniprot-TrEMBL)
KCNJ6GeneProductENSG00000157542 (Ensembl) GIRK2
Keppen-Lubinsky syndromeQ3961676 (Wikidata)
LMNAGeneProductENSG00000160789 (Ensembl)
LMNB1GeneProductENSG00000113368 (Ensembl)
LMNB2GeneProductENSG00000176619 (Ensembl)
Lamin AGeneProductENSG00000160789 (Ensembl)
Lamin B1GeneProductENSG00000113368 (Ensembl)
Lamin B2GeneProductENSG00000176619 (Ensembl)
MDP syndromeQ17120696 (Wikidata)
Mandibuloacral dysplasiaQ16968886 (Wikidata)
Marfan syndromeQ208562 (Wikidata)
Nestor-Guillermo progeria syndromeQ55784059 (Wikidata)
PARP1GeneProductENSG00000143799 (Ensembl)
POLD1GeneProductENSG00000062822 (Ensembl)
PPARGGeneProductENSG00000132170 (Ensembl)
Prelamin-A/CProteinP02545 (Uniprot-TrEMBL)
Progeroid features-hepatocellular carcinoma predisposition syndrome Q55784868 (Wikidata)
RECQLGeneProductENSG00000004700 (Ensembl)
SMAD2GeneProductENSG00000175387 (Ensembl)
SMAD3GeneProductENSG00000166949 (Ensembl)
SMAD4GeneProductENSG00000141646 (Ensembl)
SPRTNGeneProductENSG00000010072 (Ensembl)
TGFB1ProteinENSG00000105329 (Ensembl)
WRNGeneProductENSG00000165392 (Ensembl)
Werner syndromeQ1154619 (Wikidata)
ZMPSTE24GeneProductENSG00000084073 (Ensembl)

Annotated Interactions

No annotated interactions

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