Sources

The FLCN protein

Nookala et al., 2012. Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. Open Biol, 2 (8), 120071 [PMID: 22977732] [BHD Article Library]

Medvetz et al., 2012. Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion. PloS one, 7 (11), e47842 [PMID: 23139756] [BHD Article Library]

Nahorski et al., 2012. Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis. Hum Mol Genet, 21 (24), 5268-79 [PMID: 22965878] [BHD Article Library]

Khabibullin et al., 2014. Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells. Physiological reports, 2 (8) [PMID: 25121506] [BHD Article Library]

Goncharova et al., 2014. Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK. Cell reports, 7 (2), 412-23 [PMID: 24726356] [BHD Article Library]

Links:

FLCN mutation database: https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=FLCN

Folliculin and metabolism

Baba et al., 2006. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci USA, 103 (42), 15552-7 [PMID: 17028174] [BHD Article Library]

Hasumi et al., 2008. Identification and characterization of a novel folliculin-interacting protein FNIP2. Gene, 415 (1-2), 60-7 [PMID: 18403135] [BHD Article Library]

Khabibullin et al., 2014. Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells. Physiological reports, 2 (8) [PMID: 25121506] [BHD Article Library]

Martina et al., 2014. The nutrient-responsive transcription factor TFE3 promotes autophagy, lysosomal biogenesis, and clearance of cellular debris. Science signaling, 7 (309): ra9 [PMID: 24448649]

Petit et al., 2013. Recruitment of folliculin to lysosomes supports the amino acid-dependent activation of Rag GTPases. J Cell Biol, 202 (7), 1107-1122 [PMID: 24081491]

Tsun et al., 2013. The Folliculin Tumor Suppressor Is a GAP for the RagC/D GTPases That Signal Amino Acid Levels to mTORC1. Mol Cell, 38 (8):931-2. [PMID: 24095279]

Yan et al., 2014. The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation. The Journal of clinical investigation, 124 (6), 2640-50 [PMID: 24762438] [BHD Article Library]

Possik et al., 2014. Folliculin regulates ampk-dependent autophagy and metabolic stress survival. PLoS genetics, 10 (4) [PMID: 24763318] [BHD Article Library]

Goncharova et al., 2014. Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK. Cell reports, 7 (2), 412-23 [PMID: 24726356] [BHD Article Library]

Hasumi et al., 2014. Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation. Hum Mol Genet, 23 (21), 5706-19 [PMID: 24908670]

Dunlop et al., 2014. FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. Autophagy, 10 (10) [PMID: 25126726]

Apoptosis and the cell cycle

Cash et al., 2011. Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription. Oncogene, 30 (22), 2534-46 [PMID: 21258407] [BHD Article Library]

Reiman et al., 2012. Gene expression and protein array studies of folliculin-regulated pathways. Anticancer Res, 32 (11), 4663-70 [PMID: 23155228]

Possik et al., 2014. Folliculin regulates ampk-dependent autophagy and metabolic stress survival. PLoS genetics, 10 (4) [PMID: 24763318] [BHD Article Library]

Baba et al., 2012. The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development. Blood, 120 (6), 1254-61 [PMID: 22709692] [BHD Article Library]

Komori et al., 2009. A novel protein, MAPO1, that functions in apoptosis triggered by O6-methylguanine mispair in DNA. Oncogene, 28 (8), 1142-50 [PMID: 19137017]

Lim et al., 2012. Activation of AMP-activated protein kinase by MAPO1 and FLCN induces apoptosis triggered by alkylated base mismatch in DNA. DNA repair, 11 (3), 259-66 [PMID: 22209521]

Sano et al., 2013. Stabilization of MAPO1 by specific binding with folliculin and AMP-activated protein kinase in O⁶-methylguanine-induced apoptosis. Biochem Biophys Res Commun, 430 (2), 810-5 [PMID: 23201403]

Kawai et al., 2013. Folliculin regulates cyclin D1 expression through cis-acting elements in the 3′ untranslated region of cyclin D1 mRNA. Int J Oncol, 42 (5), 1597-604 [PMID: 23525507]

Laviolette et al., 2013. Human folliculin delays cell cycle progression through late S and G2/M-phases: effect of phosphorylation and tumor associated mutations. PloS one, 8 (7) [PMID: 23874397] [BHD Article Library]

Proteins that interact with Folliculin

Baba et al., 2012. The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development. Blood, 120 (6), 1254-61 [PMID: 22709692] [BHD Article Library]

Park et al., 2012. Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development. Immunity, 36 (5), 769-81 [PMID: 22608497] [BHD Article Library]

Park et al., 2014. Metabolic regulator Fnip1 is crucial for iNKT lymphocyte development. Proceedings of the National Academy of Sciences of the United States of America, 111 (19), 7066-71 [PMID: 24785297]

Petit et al., 2013. Recruitment of folliculin to lysosomes supports the amino acid-dependent activation of Rag GTPases. J Cell Biol, 202 (7), 1107-1122 [PMID: 24081491]

Tsun et al., 2013. The Folliculin Tumor Suppressor Is a GAP for the RagC/D GTPases That Signal Amino Acid Levels to mTORC1. Mol Cell, 38 (8):931-2. [PMID: 24095279]

Dunlop et al., 2014. FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. Autophagy, 10 (10) [PMID: 25126726]

Betschinger et al., 2013. Exit from pluripotency is gated by intracellular redistribution of the bHLH transcription factor Tfe3. Cell, 153 (2), 335-47 [PMID: 23582324] [BHD Article Library]

Behrends et al., 2010. Network organization of the human autophagy system. Nature, 466 (7302), 68-76 [PMID: 20562859] [BHD Article Library]

Komori et al., 2009. A novel protein, MAPO1, that functions in apoptosis triggered by O6-methylguanine mispair in DNA. Oncogene, 28 (8), 1142-50 [PMID: 19137017]

Lim et al., 2012. Activation of AMP-activated protein kinase by MAPO1 and FLCN induces apoptosis triggered by alkylated base mismatch in DNA. DNA repair, 11 (3), 259-66 [PMID: 22209521]

Sano et al., 2013. Stabilization of MAPO1 by specific binding with folliculin and AMP-activated protein kinase in O⁶-methylguanine-induced apoptosis. Biochem Biophys Res Commun, 430 (2), 810-5 [PMID: 23201403]

Medvetz et al., 2012. Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion. PloS one, 7 (11), e47842 [PMID: 23139756] [BHD Article Library]

Nahorski et al., 2012. Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis. Hum Mol Genet, 21 (24), 5268-79 [PMID: 22965878] [BHD Article Library]

Gaur et al., 2013. The Birt-Hogg-Dubé tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis. Hum Mol Genet, 22 (2), 284-99 [PMID: 23077212]

Models for BHD

Baba et al., 2006. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci USA, 103 (42), 15552-7 [PMID: 17028174] [BHD Article Library]

van Slegtenhorst et al., 2007. The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe. J Biol Chem, 282 (34), 24583-90 [PMID: 17556368] [BHD Article Library]

Gharbi et al., 2013. Loss of the Birt-Hogg-Dubé gene product folliculin induces longevity in a hypoxia-inducible factor-dependent manner. Aging cell, 12 (4), 593-603 [PMID: 23566034]

Possik et al., 2014. Folliculin regulates ampk-dependent autophagy and metabolic stress survival. PLoS genetics, 10 (4) [PMID: 24763318] [BHD Article Library]

Liu et al., 2013. Genetic characterization of the Drosophila birt-hogg-dubé syndrome gene. PloS one, 8 (6), e65869 [PMID: 23799055] [BHD Article Library]

Baba et al., 2008. Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. J Natl Cancer Inst, 100 (2), 140-54 [PMID: 18182616] [BHD Article Library]

Chen et al., 2008. Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia. PloS one, 3 (10), e3581 [PMID: 18974783] [BHD Article Library]

Hartman et al., 2009. The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. Oncogene, 28 (13), 1594-604 [PMID: 19234517] [BHD Article Library]

Hudon et al., 2010. Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculin. J Med Genet, 47 (3), 182-9 [PMID: 19843504]

Okimoto et al., 2004. A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer. Proc Natl Acad Sci USA, 101 (7), 2023-7 [PMID: 14769940] [BHD Article Library]

Lium & Moe, 1985. Hereditary multifocal renal cystadenocarcinomas and nodular dermatofibrosis in the German shepherd dog: macroscopic and histopathologic changes. Vet Pathol, 22 (5), 447-55 [PMID: 4049673]

Lingaas et al., 2003. A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. Hum Molec Genet, 12 (23), 3043-53 [PMID: 14532326] [BHD Article Library]

Bønsdorff et al., 2008. Second hits in the FLCN gene in a hereditary renal cancer syndrome in dogs. Mamm Genome, 19 (2), 121-6 [PMID: 18219524]

Bønsdorff et al., 2009. Loss of heterozygosity at the FLCN locus in early renal cystic lesions in dogs with renal cystadenocarcinoma and nodular dermatofibrosis. Mamm Genome, 20 (5), 315-20 [PMID: 19387735]

 
Publication date: December 2014
Review date: December 2017