Congenital generalized lipodystrophy (Homo sapiens)

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Bibliography

1. Cautivo KM, Lizama CO, Tapia PJ, Agarwal AK, Garg A, Horton JD, Cortés VA; ''AGPAT2 is essential for postnatal development and maintenance of white and brown adipose tissue.''; Mol Metab, 2016 PubMed Europe PMC Scholia
2. Wary KK, Mariotti A, Zurzolo C, Giancotti FG; ''A requirement for caveolin-1 and associated kinase Fyn in integrin signaling and anchorage-dependent cell growth.''; Cell, 1998 PubMed Europe PMC Scholia
3. Nwosu ZC, Ebert MP, Dooley S, Meyer C; ''Caveolin-1 in the regulation of cell metabolism: a cancer perspective.''; Mol Cancer, 2016 PubMed Europe PMC Scholia
4. Wang H, Pilch PF, Liu L; ''Cavin-1/PTRF mediates insulin-dependent focal adhesion remodeling and ameliorates high-fat diet-induced inflammatory responses in mice.''; J Biol Chem, 2019 PubMed Europe PMC Scholia
5. Sim MFM, Persiani E, Talukder MMU, Mcilroy GD, Roumane A, Edwardson JM, Rochford JJ; ''Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation.''; Sci Rep, 2020 PubMed Europe PMC Scholia
6. Gao M, Huang X, Song BL, Yang H; ''The biogenesis of lipid droplets: Lipids take center stage.''; Prog Lipid Res, 2019 PubMed Europe PMC Scholia
7. Czech MP, Tencerova M, Pedersen DJ, Aouadi M; ''Insulin signalling mechanisms for triacylglycerol storage.''; Diabetologia, 2013 PubMed Europe PMC Scholia
8. Akinci B, Sahinoz M, Oral E; ''Lipodystrophy Syndromes: Presentation and Treatment''; , 2000 PubMed Europe PMC Scholia
9. Lightbourne M, Brown RJ; ''Genetics of Lipodystrophy.''; Endocrinol Metab Clin North Am, 2017 PubMed Europe PMC Scholia
10. Driver T, Trivedi DK, McIntosh OA, Dean AP, Goodacre R, Pittman JK; ''Two Glycerol-3-Phosphate Dehydrogenases fromChlamydomonasHave Distinct Roles in Lipid Metabolism.''; Plant Physiol, 2017 PubMed Europe PMC Scholia
11. McCubrey JA, Steelman LS, Chappell WH, Abrams SL, Wong EW, Chang F, Lehmann B, Terrian DM, Milella M, Tafuri A, Stivala F, Libra M, Basecke J, Evangelisti C, Martelli AM, Franklin RA; ''Roles of the Raf/MEK/ERK pathway in cell growth, malignant transformation and drug resistance.''; Biochim Biophys Acta, 2007 PubMed Europe PMC Scholia
12. Song L, Liu Z, Hu HH, Yang Y, Li TY, Lin ZZ, Ye J, Chen J, Huang X, Liu DT, Zhou J, Shi Y, Zhao H, Xie C, Chen L, Song E, Lin SY, Lin SC; ''Proto-oncogene Src links lipogenesis via lipin-1 to breast cancer malignancy.''; Nat Commun, 2020 PubMed Europe PMC Scholia
13. Chung J, Wu X, Lambert TJ, Lai ZW, Walther TC, Farese RV Jr; ''LDAF1 and Seipin Form a Lipid Droplet Assembly Complex.''; Dev Cell, 2019 PubMed Europe PMC Scholia
14. Xu L, Wang L, Wen Z, Wu L, Jiang Y, Yang L, Xiao L, Xie Y, Ma M, Zhu W, Ye R, Liu X; ''Caveolin-1 is a checkpoint regulator in hypoxia-induced astrocyte apoptosis via Ras/Raf/ERK pathway.''; Am J Physiol Cell Physiol, 2016 PubMed Europe PMC Scholia
15. Triantafyllou EA, Georgatsou E, Mylonis I, Simos G, Paraskeva E; ''Expression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia.''; Biochim Biophys Acta Mol Cell Biol Lipids, 2018 PubMed Europe PMC Scholia
16. Salo VT, Belevich I, Li S, Karhinen L, Vihinen H, Vigouroux C, Magré J, Thiele C, Hölttä-Vuori M, Jokitalo E, Ikonen E; ''Seipin regulates ER-lipid droplet contacts and cargo delivery.''; EMBO J, 2016 PubMed Europe PMC Scholia
17. Machado-Neto JA, Fenerich BA, Rodrigues Alves APN, Fernandes JC, Scopim-Ribeiro R, Coelho-Silva JL, Traina F; ''Insulin Substrate Receptor (IRS) proteins in normal and malignant hematopoiesis.''; Clinics (Sao Paulo), 2018 PubMed Europe PMC Scholia
18. Patni N, Garg A; ''Congenital generalized lipodystrophies--new insights into metabolic dysfunction.''; Nat Rev Endocrinol, 2015 PubMed Europe PMC Scholia

History

External references

DataNodes

Name	Type	Database reference	Comment
AGPAT2	GeneProduct	ENSG00000169692 (Ensembl)
AKT2	GeneProduct	ENSG00000105221 (Ensembl)
BSCL2	GeneProduct	ENSG00000168000 (Ensembl)
CAV1	GeneProduct	ENSG00000105974 (Ensembl)
CAVIN1	GeneProduct	ENSG00000177469 (Ensembl)
CGL type 1		Q32147669 (Wikidata)
CGL type 2		Q32147684 (Wikidata)
CGL type 3		Q32147698 (Wikidata)
CGL type 4		Q32147713 (Wikidata)
Congenital Generalized Lipodystrophy (CGL)		Q3242224 (Wikidata)
DGAT1	GeneProduct	ENSG00000185000 (Ensembl)
DGAT2	GeneProduct	ENSG00000062282 (Ensembl)
Diacylglycerol	Metabolite	CHEBI:85682 (ChEBI)
FYN	GeneProduct	ENSG00000010810 (Ensembl)
GPAT3	GeneProduct	ENSG00000138678 (Ensembl)
GRB2	GeneProduct	ENSG00000177885 (Ensembl)
Glycerol-3-phosphate	Protein	A0A024R8I7 (Uniprot-TrEMBL)
HIF1A	GeneProduct	ENSG00000100644 (Ensembl)
IRS1	GeneProduct	ENSG00000169047 (Ensembl)
Insulin	Protein	A6XGL2 (Uniprot-TrEMBL)
Integrin beta	Protein	A0A024R8K7 (Uniprot-TrEMBL)
LPIN1	GeneProduct	ENSG00000134324 (Ensembl)
LPIN2	GeneProduct	ENSG00000101577 (Ensembl)
LPIN3	GeneProduct	ENSG00000132793 (Ensembl)
Lysophosphatidic acid	Metabolite	ChEMBL117021 (ChEMBL compound)
PI3K	GeneProduct	ENSG00000121879 (Ensembl)
Phosphatidic acid	Metabolite	16337 (ChEBI)
RAS-ERK	Pathway	WP3853 (WikiPathways)
Seipin	Protein	F8WER0 (Uniprot-TrEMBL)
Triacylglycerol	Metabolite	17855 (ChEBI)
x	Metabolite

Annotated Interactions

No annotated interactions