Progeria-associated lipodystrophy (Homo sapiens)

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Bibliography

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
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History

External references

DataNodes

Name	Type	Database reference	Comment
Asprosin	Protein	P35555 (Uniprot-TrEMBL)
BANF1	GeneProduct	ENSG00000175334 (Ensembl)
CAAX	Metabolite	CHEBI:15356 (ChEBI)
DPC	GeneProduct	ENSG00000168631 (Ensembl)	DNA-protein cross-links
FBN1	GeneProduct	ENSG00000166147 (Ensembl)
FNTA	GeneProduct	ENSG00000168522 (Ensembl)
Farnesyl-L-cysteine	Metabolite	CHEBI:86019 (ChEBI)
Farnesyl	Metabolite	CHEBI:86019 (ChEBI)
Fibrillin-1	Protein	F6U495 (Uniprot-TrEMBL)
GPCR	Protein	A0A0K0PUW7 (Uniprot-TrEMBL)
Hutchinson-Gilford Progeria Syndrome		Q213098 (Wikidata)
ICMT	GeneProduct	ENSG00000116237 (Ensembl)
Insulin	Protein	A6XGL2 (Uniprot-TrEMBL)
KCNJ6	GeneProduct	ENSG00000157542 (Ensembl)	GIRK2
Keppen-Lubinsky syndrome		Q3961676 (Wikidata)
LMNA	GeneProduct	ENSG00000160789 (Ensembl)
LMNB1	GeneProduct	ENSG00000113368 (Ensembl)
LMNB2	GeneProduct	ENSG00000176619 (Ensembl)
Lamin A	GeneProduct	ENSG00000160789 (Ensembl)
Lamin B1	GeneProduct	ENSG00000113368 (Ensembl)
Lamin B2	GeneProduct	ENSG00000176619 (Ensembl)
MDP syndrome		Q17120696 (Wikidata)
Mandibuloacral dysplasia		Q16968886 (Wikidata)
Marfan syndrome		Q208562 (Wikidata)
Nestor-Guillermo progeria syndrome		Q55784059 (Wikidata)
PARP1	GeneProduct	ENSG00000143799 (Ensembl)
POLD1	GeneProduct	ENSG00000062822 (Ensembl)
PPARG	GeneProduct	ENSG00000132170 (Ensembl)
Prelamin-A/C	Protein	P02545 (Uniprot-TrEMBL)
Progeroid features-hepatocellular carcinoma predisposition syndrome		Q55784868 (Wikidata)
RECQL	GeneProduct	ENSG00000004700 (Ensembl)
SMAD2	GeneProduct	ENSG00000175387 (Ensembl)
SMAD3	GeneProduct	ENSG00000166949 (Ensembl)
SMAD4	GeneProduct	ENSG00000141646 (Ensembl)
SPRTN	GeneProduct	ENSG00000010072 (Ensembl)
TGFB1	Protein	ENSG00000105329 (Ensembl)
WRN	GeneProduct	ENSG00000165392 (Ensembl)
Werner syndrome		Q1154619 (Wikidata)
ZMPSTE24	GeneProduct	ENSG00000084073 (Ensembl)

Annotated Interactions

No annotated interactions