Progeria-associated lipodystrophy (WP5103)

Homo sapiens

Open in new tab Open in NDEx Open in Newt (SBGN)
Download PNG Download SVG Download JSON Download GPML Learn more about Downloads
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.

Authors

Ulas Babayigit , Eric Weitz , and Friederike Ehrhart

Activity

last edited

Discuss this pathway

Check for ongoing discussions or start your own.

Cited In

Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.

Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology

disease pathway

Disease Ontology

progeria lipodystrophy Werner syndrome

Participants
Query Drugst.One

Label Type Compact URI Comment
Farnesyl Metabolite chebi:86019
CAAX Metabolite chebi:15356
Farnesyl-L-cysteine Metabolite chebi:86019
PPARG GeneProduct ensembl:ENSG00000132170
RECQL GeneProduct ensembl:ENSG00000004700
SMAD4 GeneProduct ensembl:ENSG00000141646
SMAD3 GeneProduct ensembl:ENSG00000166949
SMAD2 GeneProduct ensembl:ENSG00000175387
PARP1 GeneProduct ensembl:ENSG00000143799
FBN1 GeneProduct ensembl:ENSG00000166147
DPC GeneProduct ensembl:ENSG00000168631 DNA-protein cross-links
BANF1 GeneProduct ensembl:ENSG00000175334
SPRTN GeneProduct ensembl:ENSG00000010072
POLD1 GeneProduct ensembl:ENSG00000062822
KCNJ6 GeneProduct ensembl:ENSG00000157542 GIRK2
WRN GeneProduct ensembl:ENSG00000165392
LMNB1 GeneProduct ensembl:ENSG00000113368
LMNB2 GeneProduct ensembl:ENSG00000176619
ZMPSTE24 GeneProduct ensembl:ENSG00000084073
FNTA GeneProduct ensembl:ENSG00000168522
ICMT GeneProduct ensembl:ENSG00000116237
LMNA GeneProduct ensembl:ENSG00000160789
Lamin A GeneProduct ensembl:ENSG00000160789
Lamin B2 GeneProduct ensembl:ENSG00000176619
Lamin B1 GeneProduct ensembl:ENSG00000113368
TGFB1 Protein ensembl:ENSG00000105329
Lamin A Protein ensembl:ENSG00000160789
Asprosin Protein uniprot:P35555
Fibrillin-1 Protein uniprot:F6U495
GPCR Protein uniprot:A0A0K0PUW7
Insulin Protein uniprot:A6XGL2
Prelamin-A/C Protein uniprot:P02545

References

  1. Characterization and variation of a human inwardly-rectifying-K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit. Sakura H, Bond C, Warren-Perry M, Horsley S, Kearney L, Tucker S, et al. FEBS Lett. 1995 Jun 26;367(2):193–7. PubMed Europe PMC Scholia
  2. The nuclear lamina and its functions in the nucleus. Gruenbaum Y, Goldman RD, Meyuhas R, Mills E, Margalit A, Fridkin A, et al. Int Rev Cytol. 2003;226:1–62. PubMed Europe PMC Scholia
  3. From old organisms to new molecules: integrative biology and therapeutic targets in accelerated human ageing. Cox LS, Faragher RGA. Cell Mol Life Sci. 2007 Oct;64(19–20):2620–41. PubMed Europe PMC Scholia
  4. Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. Agarwal AK, Kazachkova I, Ten S, Garg A. J Clin Endocrinol Metab. 2008 Dec;93(12):4617–23. PubMed Europe PMC Scholia
  5. CAAX-box protein, prenylation process and carcinogenesis. Gao J, Liao J, Yang GY. Am J Transl Res. 2009 May 25;1(3):312–25. PubMed Europe PMC Scholia
  6. The lamin protein family. Dittmer TA, Misteli T. Genome Biol. 2011;12(5):222. PubMed Europe PMC Scholia
  7. Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6. Masotti A, Uva P, Davis-Keppen L, Basel-Vanagaite L, Cohen L, Pisaneschi E, et al. Am J Hum Genet. 2015 Feb 5;96(2):295–300. PubMed Europe PMC Scholia
  8. TSC1 activates TGF-β-Smad2/3 signaling in growth arrest and epithelial-to-mesenchymal transition. Thien A, Prentzell MT, Holzwarth B, Kläsener K, Kuper I, Boehlke C, et al. Dev Cell. 2015 Mar 9;32(5):617–30. PubMed Europe PMC Scholia
  9. Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions. Oshima J, Sidorova JM, Monnat RJ Jr. Ageing Res Rev. 2017 Jan;33:105–14. PubMed Europe PMC Scholia
  10. POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies. Nicolas E, Golemis EA, Arora S. Gene. 2016 Sep 15;590(1):128–41. PubMed Europe PMC Scholia
  11. FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. Sakai LY, Keene DR, Renard M, De Backer J. Gene. 2016 Oct 10;591(1):279–91. PubMed Europe PMC Scholia
  12. Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair. Vaz B, Popovic M, Newman JA, Fielden J, Aitkenhead H, Halder S, et al. Mol Cell. 2016 Nov 17;64(4):704–19. PubMed Europe PMC Scholia
  13. Genetics of Lipodystrophy. Lightbourne M, Brown RJ. Endocrinol Metab Clin North Am. 2017 Jun;46(2):539–54. PubMed Europe PMC Scholia
  14. Infection with enteric pathogens Salmonella typhimurium and Citrobacter rodentium modulate TGF-beta/Smad signaling pathways in the intestine. Zhang YG, Singhal M, Lin Z, Manzella C, Kumar A, Alrefai WA, et al. Gut Microbes. 2018 Jul 4;9(4):326–37. PubMed Europe PMC Scholia
  15. Lipodystrophy Syndromes: Presentation and Treatment. Akinci B, Sahinoz M, Oral E. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, et al., editors. Endotext. South Dartmouth (MA): MDText.com, Inc.; 2018. PubMed Europe PMC Scholia
  16. Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants. Broekema MF, Savage DB, Monajemi H, Kalkhoven E. Biochim Biophys Acta Mol Cell Biol Lipids. 2019 May;1864(5):715–32. PubMed Europe PMC Scholia
  17. Barrier-to-autointegration factor 1 (Banf1) regulates poly [ADP-ribose] polymerase 1 (PARP1) activity following oxidative DNA damage. Bolderson E, Burgess JT, Li J, Gandhi NS, Boucher D, Croft LV, et al. Nat Commun. 2019 Dec 3;10(1):5501. PubMed Europe PMC Scholia
  18. Asprosin: A Novel Player in Metabolic Diseases. Yuan M, Li W, Zhu Y, Yu B, Wu J. Front Endocrinol (Lausanne). 2020 Feb 19;11:64. PubMed Europe PMC Scholia
  19. Marfan syndrome revisited: From genetics to the clinic. Coelho SG, Almeida AG. Rev Port Cardiol (Engl Ed). 2020 Apr;39(4):215–26. PubMed Europe PMC Scholia