94 posts · 26,728 views
BHD Research Blog
94 posts
Sort by Latest Post, Most Popular
View by Condensed, Full
by Lizzie Perdeaux in BHD Research Blog
The signalling diagram has been updated to include the following recent research papers: FNIP2 causes MNU-induced apoptosis (Sano et al., 2013) FLCN inhibits MMP9 (Pimenta et al., 2012) FLCN inhibits HIF-1a, mTORC1 and mTORC2 (Nishii et al., 2013) FLCN and … Continue reading →... Read more »
Sano S, Sakagami R, Sekiguchi M, & Hidaka M. (2013) Stabilization of MAPO1 by specific binding with folliculin and AMP-activated protein kinase in O⁶-methylguanine-induced apoptosis. Biochemical and biophysical research communications, 430(2), 810-5. PMID: 23201403
Pimenta SP, Baldi BG, Nascimento EC, Mauad T, Kairalla RA, & Carvalho CR. (2012) Birt-Hogg-Dubé syndrome: metalloproteinase activity and response to doxycycline. Clinics (Sao Paulo, Brazil), 67(12), 1501-4. PMID: 23295609
Nishii T, Tanabe M, Tanaka R, Matsuzawa T, Okudela K, Nozawa A, Nakatani Y, & Furuya M. (2013) Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt-Hogg-Dubé syndrome. Pathology international, 63(1), 45-55. PMID: 23356225
Pradella LM, Lang M, Kurelac I, Mariani E, Guerra F, Zuntini R, Tallini G, Mackay A, Reis-Filho JS, Seri M.... (2013) Where Birt-Hogg-Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours. European journal of human genetics : EJHG. PMID: 23386036
Lu X, Boora U, Seabra L, Rabai EM, Fenton J, Reiman A, Nagy Z, & Maher ER. (2013) Knockdown of Slingshot 2 (SSH2) serine phosphatase induces Caspase3 activation in human carcinoma cell lines with the loss of the Birt-Hogg-Dubé tumour suppressor gene (FLCN). Oncogene. PMID: 23416984
Kawai A, Kobayashi T, & Hino O. (2013) Folliculin regulates cyclin D1 expression through cis-acting elements in the 3' untranslated region of cyclin D1 mRNA. International journal of oncology, 42(5), 1597-604. PMID: 23525507
Gharbi H, Fabretti F, Bharill P, Rinschen M, Brinkkötter S, Frommolt P, Burst V, Schermer B, Benzing T, & Müller RU. (2013) Loss of the Birt-Hogg-Dubé gene product Folliculin induces longevity in a hypoxia-inducible factor dependent manner. Aging cell. PMID: 23566034
by Lizzie Perdeaux in BHD Research Blog
As briefly mentioned in last week’s blog, the inaugural conference of the International Rare Disease Research Consortium (IRDiRC) was held in Dublin earlier this month. The conference brought together researchers, clinicians, policy makers and patient organisations from across the globe … Continue reading →... Read more »
Kastelein JJ, Ross CJ, & Hayden MR. (2013) From Mutation Identification to Therapy: Discovery and Origins of the First Approved Gene Therapy in the Western World. Human gene therapy. PMID: 23578007
by Lizzie Perdeaux in BHD Research Blog
The aim of this year’s Rare Disease Day, Rare Disorders Without Borders, was to promote the message that international collaboration between patients, clinicians and researchers is imperative to find cures for rare diseases. Indeed, this has been the feeling of … Continue reading →... Read more »
McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM.... (2011) Efficacy and safety of sirolimus in lymphangioleiomyomatosis. The New England journal of medicine, 364(17), 1595-606. PMID: 21410393
O'Connor, D. (2013) Orphan drug designation – Europe, the USA and Japan. Expert Opinion on Orphan Drugs, 1(4), 255-259. DOI: 10.1517/21678707.2013.769876
by Lizzie Perdeaux in BHD Research Blog
Several signalling pathways – namely the mTOR, HIF and insulin signalling pathways – are known to slow ageing and increase longevity under certain conditions. This is a topic of much research, and was discussed at the recent “Talks about TORCs” … Continue reading →... Read more »
Gharbi H, Fabretti F, Bharill P, Rinschen M, Brinkkötter S, Frommolt P, Burst V, Schermer B, Benzing T, & Müller RU. (2013) Loss of the Birt-Hogg-Dubé gene product Folliculin induces longevity in a hypoxia-inducible factor dependent manner. Aging cell. PMID: 23566034
by Lizzie Perdeaux in BHD Research Blog
Last month, the Third Crick Symposium was held in London (UK), with the aim of discussing ways in which basic biological research could progress from “Genetics to molecules to therapies”. In particular, this meeting brought together chemists, biologists and clinicians … Continue reading →... Read more »
Barquilla, A., Saldivia, M., Diaz, R., Bart, J., Vidal, I., Calvo, E., Hall, M., & Navarro, M. (2012) Third target of rapamycin complex negatively regulates development of quiescence in Trypanosoma brucei. Proceedings of the National Academy of Sciences, 109(36), 14399-14404. DOI: 10.1073/pnas.1210465109
Dunlop EA, Hunt DK, Acosta-Jaquez HA, Fingar DC, & Tee AR. (2011) ULK1 inhibits mTORC1 signaling, promotes multisite Raptor phosphorylation and hinders substrate binding. Autophagy, 7(7), 737-47. PMID: 21460630
Gerlinger, M., Rowan, A., Horswell, S., Larkin, J., Endesfelder, D., Gronroos, E., Martinez, P., Matthews, N., Stewart, A., Tarpey, P.... (2012) Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing. New England Journal of Medicine, 366(10), 883-892. DOI: 10.1056/NEJMoa1113205
Gharbi, H., Fabretti, F., Bharill, P., Rinschen, M., Brinkkötter, S., Frommolt, P., Burst, V., Schermer, B., Benzing, T., & Müller, R. (2013) Loss of the Birt-Hogg-Dubé gene product Folliculin induces longevity in a hypoxia-inducible factor dependent manner. Aging Cell. DOI: 10.1111/acel.12081
by Lizzie Perdeaux in BHD Research Blog
The cell cycle is a tightly controlled process, requiring both oncogenes, which drive cell division and growth, and tumour suppressor genes, which prevent cells from growing and dividing too quickly. BHD Syndrome is caused by autosomal dominant mutations in the … Continue reading →... Read more »
Kawai A, Kobayashi T, & Hino O. (2013) Folliculin regulates cyclin D1 expression through cis-acting elements in the 3' untranslated region of cyclin D1 mRNA. International journal of oncology. PMID: 23525507
by Lizzie Perdeaux in BHD Research Blog
In August 2011, a blog post highlighted a study by Starink et al. (2011), which described a condition known as familial multiple discoid fibromas (FMDF). This rare skin disorder is characterised by the early onset of multiple firm papules on the … Continue reading →... Read more »
Wee, J., Chong, H., Natkunarajah, J., Mortimer, P., & Moosa, Y. (2013) Familial multiple discoid fibromas: unique histological features and therapeutic response to topical rapamycin. British Journal of Dermatology. DOI: 10.1111/bjd.12315
by Lizzie Perdeaux in BHD Research Blog
The Abstract and Early-bird registration deadlines for the Fifth BHD and Second HLRCC Symposium are fast approaching. If you have data that you would like to present at the symposium, the deadline to submit an abstract is on Friday 29th … Continue reading →... Read more »
Various. (2008) Abstracts of the Inaugural Birt-Hogg-Dubé (BHD) Symposium. Roskilde, Denmark. September 3, 2008. Familial cancer. PMID: 18704757
Various. (2010) Abstracts of the Second Birt Hogg Dubé Symposium. Washington, DC, USA. April 22, 2010. Familial cancer. PMID: 20229310
Various. (2011) Abstracts of the Third Birt-Hogg-Dubé Symposium. Maastricht, The Netherlands. May 11-12th, 2011. Familial cancer. PMID: 21506000
Various. (2012) The Fourth Birt–Hogg–Dubé Symposium, Cincinnati, USA, 28th–30th March, 2012. Familial Cancer, 12(1), 133-140. DOI: 10.1007/s10689-012-9528-4
by Lizzie Perdeaux in BHD Research Blog
Dr Frank McCormack is a Professor of Medicine and Director of the Division of Pulmonary, Critical Care & Sleep Medicine at the University of Cincinnati. Professor McCormack also leads a research group which investigates pulmonary innate immunity and the mechanisms … Continue reading →... Read more »
Crouch, E., Nikolaidis, N., McCormack, F., McDonald, B., Allen, K., Rynkiewicz, M., Cafarella, T., White, M., Lewnard, K., Leymarie, N.... (2011) Mutagenesis of Surfactant Protein D Informed by Evolution and X-ray Crystallography Enhances Defenses against Influenza A Virus in Vivo. Journal of Biological Chemistry, 286(47), 40681-40692. DOI: 10.1074/jbc.M111.300673
Franz, D., Bissler, J., & McCormack, F. (2011) Tuberous Sclerosis Complex: Neurological, Renal and Pulmonary Manifestations. Neuropediatrics, 41(05), 199-208. DOI: 10.1055/s-0030-1269906
Henske, E., & McCormack, F. (2012) Lymphangioleiomyomatosis — a wolf in sheep’s clothing. Journal of Clinical Investigation, 122(11), 3807-3816. DOI: 10.1172/JCI58709
McCormack, F., Inoue, Y., Moss, J., Singer, L., Strange, C., Nakata, K., Barker, A., Chapman, J., Brantly, M., Stocks, J.... (2011) Efficacy and Safety of Sirolimus in Lymphangioleiomyomatosis. New England Journal of Medicine, 364(17), 1595-1606. DOI: 10.1056/NEJMoa1100391
Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, & Hino O. (2002) Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. Journal of human genetics, 47(1), 20-8. PMID: 11829138
Wu, H., Suzuki, T., Carey, B., Trapnell, B., & McCormack, F. (2011) Keratinocyte Growth Factor Augments Pulmonary Innate Immunity through Epithelium-driven, GM-CSF-dependent Paracrine Activation of Alveolar Macrophages. Journal of Biological Chemistry, 286(17), 14932-14940. DOI: 10.1074/jbc.M110.182170
Young, L., Gulleman, P., Bridges, J., Weaver, T., Deutsch, G., Blackwell, T., & McCormack, F. (2012) The Alveolar Epithelium Determines Susceptibility to Lung Fibrosis in Hermansky-Pudlak Syndrome. American Journal of Respiratory and Critical Care Medicine, 186(10), 1014-1024. DOI: 10.1164/rccm.201207-1206OC
Young, L. (2010) Serum Vascular Endothelial Growth Factor-D Prospectively Distinguishes Lymphangioleiomyomatosis From Other Diseases. CHEST Journal, 138(3), 674. DOI: 10.1378/chest.10-0573
by Lizzie Perdeaux in BHD Research Blog
BHD syndrome is an autosomal dominantly inherited disease, caused by mutations in the FLCN gene and characterised by skin lesions; lung cysts and predisposition to pneumothoraces; and predisposition to kidney cancer. While loss of just one FLCN allele is believed … Continue reading →... Read more »
Lu X, Boora U, Seabra L, Rabai EM, Fenton J, Reiman A, Nagy Z, & Maher ER. (2013) Knockdown of Slingshot 2 (SSH2) serine phosphatase induces Caspase3 activation in human carcinoma cell lines with the loss of the Birt-Hogg-Dubé tumour suppressor gene (FLCN). Oncogene. PMID: 23416984
by Lizzie Perdeaux in BHD Research Blog
Much like BHD, Cowden syndrome (CS) is an autosomal dominant disorder which leads to benign cutaneous lesions and an increased risk of cancer. CS is caused by mutations in PTEN, and its similarities with BHD syndrome have been discussed in … Continue reading →... Read more »
Cunningham JT, Rodgers JT, Arlow DH, Vazquez F, Mootha VK, & Puigserver P. (2007) mTOR controls mitochondrial oxidative function through a YY1-PGC-1alpha transcriptional complex. Nature, 450(7170), 736-40. PMID: 18046414
Gasparre G, Romeo G, Rugolo M, & Porcelli AM. (2011) Learning from oncocytic tumors: Why choose inefficient mitochondria?. Biochimica et biophysica acta, 1807(6), 633-42. PMID: 20732299
Hasumi H, Baba M, Hasumi Y, Huang Y, Oh H, Hughes RM, Klein ME, Takikita S, Nagashima K, Schmidt LS.... (2012) Regulation of mitochondrial oxidative metabolism by tumor suppressor FLCN. Journal of the National Cancer Institute, 104(22), 1750-64. PMID: 23150719
Klomp JA, Petillo D, Niemi NM, Dykema KJ, Chen J, Yang XJ, Sääf A, Zickert P, Aly M, Bergerheim U.... (2010) Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression. BMC medical genomics, 59. PMID: 21162720
Pradella LM, Lang M, Kurelac I, Mariani E, Guerra F, Zuntini R, Tallini G, Mackay A, Reis-Filho JS, Seri M.... (2013) Where Birt-Hogg-Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours. European journal of human genetics : EJHG. PMID: 23386036
Pradella LM, Zuntini R, Magini P, Ceccarelli C, Neri I, Cerasoli S, Graziano C, Gasparre G, & Turchetti D. (2011) Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion. Journal of medical genetics, 48(11), 779-82. PMID: 21926107
by Lizzie Perdeaux in BHD Research Blog
Rare Disease Day was founded by EURORDIS, an alliance of organisations and individuals who represent those with rare diseases in Europe, in order to raise awareness about rare diseases as a public health issue. The first Rare Disease Day was … Continue reading →... Read more »
Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER.... (2009) Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 10(12), 1199-206. PMID: 19959076
by Lizzie Perdeaux in BHD Research Blog
We are happy to announce that registration for the Fifth BHD and Second HLRCC Symposium is now open, with discounted rates available till 31st March 2013. The Symposium will be hosted by Professor Stéphane Richard at the École du Louvre in … Continue reading →... Read more »
Colledge VL, & Solly J. (2012) The rare disease challenge and how to promote a productive rare disease community: case study of Birt-Hogg-Dubé symposia. Orphanet journal of rare diseases, 63. PMID: 22950632
by Lizzie Perdeaux in BHD Research Blog
Although it is generally accepted that FLCN has a role in mTOR signalling, precisely what this role is remains unclear (as illustrated in our signalling diagram and described here). mTOR signalling is known to control cell growth, proliferation and energy … Continue reading →... Read more »
Furuya M, Tanaka R, Koga S, Yatabe Y, Gotoda H, Takagi S, Hsu YH, Fujii T, Okada A, Kuroda N.... (2012) Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families. The American journal of surgical pathology, 36(4), 589-600. PMID: 22441547
Hudson CC, Liu M, Chiang GG, Otterness DM, Loomis DC, Kaper F, Giaccia AJ, & Abraham RT. (2002) Regulation of hypoxia-inducible factor 1alpha expression and function by the mammalian target of rapamycin. Molecular and cellular biology, 22(20), 7004-14. PMID: 12242281
Laplante M, & Sabatini DM. (2012) mTOR signaling in growth control and disease. Cell, 149(2), 274-93. PMID: 22500797
Mazure NM, Chen EY, Yeh P, Laderoute KR, & Giaccia AJ. (1996) Oncogenic transformation and hypoxia synergistically act to modulate vascular endothelial growth factor expression. Cancer research, 56(15), 3436-40. PMID: 8758908
Nishii T, Tanabe M, Tanaka R, Matsuzawa T, Okudela K, Nozawa A, Nakatani Y, & Furuya M. (2013) Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt-Hogg-Dubé syndrome. Pathology international, 63(1), 45-55. PMID: 23356225
by Lizzie Perdeaux in BHD Research Blog
In 2011, a study by Tobino et al. discussed the differences between BHD syndrome and the cystic lung disease lymphangioleiomyomatosis (LAM), as described here. The importance of these differences has been underlined by a recent case report in which a BHD … Continue reading →... Read more »
Elkington PT, & Friedland JS. (2006) Matrix metalloproteinases in destructive pulmonary pathology. Thorax, 61(3), 259-66. PMID: 16227332
Fröhlich BA, Zeitz C, Mátyás G, Alkadhi H, Tuor C, Berger W, & Russi EW. (2008) Novel mutations in the folliculin gene associated with spontaneous pneumothorax. The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology, 32(5), 1316-20. PMID: 18579543
Furuya M, Tanaka R, Koga S, Yatabe Y, Gotoda H, Takagi S, Hsu YH, Fujii T, Okada A, Kuroda N.... (2012) Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families. The American journal of surgical pathology, 36(4), 589-600. PMID: 22441547
Jackson C. (2002) Matrix metalloproteinases and angiogenesis. Current opinion in nephrology and hypertension, 11(3), 295-9. PMID: 11981259
Kalhan R, Yeldandi AV, & Jain M. (2007) A 48-year-old woman with skin lesions, renal masses, and spontaneous pneumothorax. Chest, 131(2), 624-7. PMID: 17296671
McCormack FX. (2008) Lymphangioleiomyomatosis: a clinical update. Chest, 133(2), 507-16. PMID: 18252917
Moses MA, Harper J, & Folkman J. (2006) Doxycycline treatment for lymphangioleiomyomatosis with urinary monitoring for MMPs. The New England journal of medicine, 354(24), 2621-2. PMID: 16775248
Pimenta SP, Baldi BG, Nascimento EC, Mauad T, Kairalla RA, & Carvalho CR. (2012) Birt-Hogg-Dubé syndrome: metalloproteinase activity and response to doxycycline. Clinics (Sao Paulo, Brazil), 67(12), 1501-4. PMID: 23295609
Tobino K, Hirai T, Johkoh T, Kurihara M, Fujimoto K, Tomiyama N, Mishima M, Takahashi K, & Seyama K. (2012) Differentiation between Birt-Hogg-Dubé syndrome and lymphangioleiomyomatosis: quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females. European journal of radiology, 81(6), 1340-6. PMID: 21550193
by Lizzie Perdeaux in BHD Research Blog
Although the FLCN gene was identified in 2002 by Nickerson et al., studies trying to define the prevalence of BHD and the risks of developing the symptoms of BHD have proven difficult to determine, as discussed in this blog post. … Continue reading →... Read more »
Kluijt I, de Jong D, Teertstra HJ, Axwijk PH, Gille JJ, Bell K, van Rens A, van der Velden AW, Middelton L, & Horenblas S. (2009) Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome. Clinical genetics, 75(6), 537-43. PMID: 19320655
Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER.... (2009) Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 10(12), 1199-206. PMID: 19959076
Menko FH, Johannesma PC, van Moorselaar RJ, Reinhard R, van Waesberghe JH, Thunnissen E, Houweling AC, Leter EM, Waisfisz Q, van Doorn MB.... (2012) A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation. Familial cancer. PMID: 23264078
Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP.... (2002) Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer cell, 2(2), 157-64. PMID: 12204536
Turnbull C, Perdeaux ER, Pernet D, Naranjo A, Renwick A, Seal S, Munoz-Xicola RM, Hanks S, Slade I, Zachariou A.... (2012) A genome-wide association study identifies susceptibility loci for Wilms tumor. Nature genetics, 44(6), 681-4. PMID: 22544364
by Lizzie Perdeaux in BHD Research Blog
As has been noted in our blog review of 2012, a great deal of research in the BHD field has been published in the past year. Thus, it is only appropriate to reflect these changes in an updated version of … Continue reading →... Read more »
Nookala RK, Langemeyer L, Pacitto A, Ochoa-Montaño B, Donaldson JC, Blaszczyk BK, Chirgadze DY, Barr FA, Bazan JF, & Blundell TL. (2012) Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. Open biology, 2(8), 120071. PMID: 22977732
by Lizzie Perdeaux in BHD Research Blog
Last week’s blog described a recent paper by Sano et al., which showed that FNIP2 is required for apoptosis in human cells. Additional studies have shown that FLCN and FNIP1 also function in apoptotic pathways, thus we have decided to … Continue reading →... Read more »
Baba M, Keller JR, Sun HW, Resch W, Kuchen S, Suh HC, Hasumi H, Hasumi Y, Kieffer-Kwon KR, Gonzalez CG.... (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
Bardella C, Olivero M, Lorenzato A, Geuna M, Adam J, O'Flaherty L, Rustin P, Tomlinson I, Pollard PJ, & Di Renzo MF. (2012) Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism. Molecular and cellular biology, 32(15), 3081-94. PMID: 22645311
Behrends C, Sowa ME, Gygi SP, & Harper JW. (2010) Network organization of the human autophagy system. Nature, 466(7302), 68-76. PMID: 20562859
Cash TP, Gruber JJ, Hartman TR, Henske EP, & Simon MC. (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
Du C, Fang M, Li Y, Li L, & Wang X. (2000) Smac, a mitochondrial protein that promotes cytochrome c-dependent caspase activation by eliminating IAP inhibition. Cell, 102(1), 33-42. PMID: 10929711
Esteve P, Embade N, Perona R, Jiménez B, del Peso L, León J, Arends M, Miki T, & Lacal JC. (1998) Rho-regulated signals induce apoptosis in vitro and in vivo by a p53-independent, but Bcl2 dependent pathway. Oncogene, 17(14), 1855-69. PMID: 9778052
Favaloro B, Allocati N, Graziano V, Di Ilio C, & De Laurenzi V. (2012) Role of apoptosis in disease. Aging, 4(5), 330-49. PMID: 22683550
Gobé G, Rubin M, Williams G, Sawczuk I, & Buttyan R. (2002) Apoptosis and expression of Bcl-2, Bcl-XL, and Bax in renal cell carcinomas. Cancer investigation, 20(3), 324-32. PMID: 12025227
Komori K, Takagi Y, Sanada M, Lim TH, Nakatsu Y, Tsuzuki T, Sekiguchi M, & Hidaka M. (2009) A novel protein, MAPO1, that functions in apoptosis triggered by O6-methylguanine mispair in DNA. Oncogene, 28(8), 1142-50. PMID: 19137017
Lim TH, Fujikane R, Sano S, Sakagami R, Nakatsu Y, Tsuzuki T, Sekiguchi M, & Hidaka M. (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
Luo S, & Rubinsztein DC. (2013) BCL2L11/BIM: A novel molecular link between autophagy and apoptosis. Autophagy, 9(1), 104-5. PMID: 23064249
Martinez-Ruiz G, Maldonado V, Ceballos-Cancino G, Grajeda JP, & Melendez-Zajgla J. (2008) Role of Smac/DIABLO in cancer progression. Journal of experimental , 48. PMID: 18822137
Medvetz DA, Khabibullin D, Hariharan V, Ongusaha PP, Goncharova EA, Schlechter T, Darling TN, Hofmann I, Krymskaya VP, Liao JK.... (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). PMID: 23139756
Nahorski MS, Seabra L, Straatman-Iwanowska A, Wingenfeld A, Reiman A, Lu X, Klomp JA, Teh BT, Hatzfeld M, Gissen P.... (2012) Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis. Human molecular genetics, 21(24), 5268-79. PMID: 22965878
Olsson M, & Zhivotovsky B. (2011) Caspases and cancer. Cell death and differentiation, 18(9), 1441-9. PMID: 21455218
Reiman A, Lu X, Seabra L, Boora U, Nahorski MS, Wei W, & Maher ER. (2012) Gene expression and protein array studies of folliculin-regulated pathways. Anticancer research, 32(11), 4663-70. PMID: 23155228
Sano S, Sakagami R, Sekiguchi M, & Hidaka M. (2012) Stabilization of MAPO1 by specific binding with folliculin and AMP-activated protein kinase in O(6)-methylguanine-induced apoptosis. Biochemical and biophysical research communications. PMID: 23201403
Shimizu S, Narita M, & Tsujimoto Y. (1999) Bcl-2 family proteins regulate the release of apoptogenic cytochrome c by the mitochondrial channel VDAC. Nature, 399(6735), 483-7. PMID: 10365962
Sun XM, Bratton SB, Butterworth M, MacFarlane M, & Cohen GM. (2002) Bcl-2 and Bcl-xL inhibit CD95-mediated apoptosis by preventing mitochondrial release of Smac/DIABLO and subsequent inactivation of X-linked inhibitor-of-apoptosis protein. The Journal of biological chemistry, 277(13), 11345-51. PMID: 11801595
Yin X, Wolford CC, Chang YS, McConoughey SJ, Ramsey SA, Aderem A, & Hai T. (2010) ATF3, an adaptive-response gene, enhances TGF{beta} signaling and cancer-initiating cell features in breast cancer cells. Journal of cell science, 123(Pt 20), 3558-65. PMID: 20930144
by Lizzie Perdeaux in BHD Research Blog
Previous studies in mouse cell lines have suggested that FLCN, FNIP2 and AMPK are involved in N-Nitroso-N-methylurea (MNU)-induced apoptosis (Lim et al., 2011 – described here). Using a human cell line, further work from the same group has now shown that … Continue reading →... Read more »
Hasumi H, Baba M, Hong SB, Hasumi Y, Huang Y, Yao M, Valera VA, Linehan WM, & Schmidt LS. (2008) Identification and characterization of a novel folliculin-interacting protein FNIP2. Gene, 415(1-2), 60-7. PMID: 18403135
Lim TH, Fujikane R, Sano S, Sakagami R, Nakatsu Y, Tsuzuki T, Sekiguchi M, & Hidaka M. (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 S, Sakagami R, Sekiguchi M, & Hidaka M. (2012) Stabilization of MAPO1 by specific binding with folliculin and AMP-activated protein kinase in O(6)-methylguanine-induced apoptosis. Biochemical and biophysical research communications. PMID: 23201403
Takagi Y, Kobayashi T, Shiono M, Wang L, Piao X, Sun G, Zhang D, Abe M, Hagiwara Y, Takahashi K.... (2008) Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. Oncogene, 27(40), 5339-47. PMID: 18663353
by Lizzie Perdeaux in BHD Research Blog
With the New Year upon us, we thought we would use this week’s blog to revisit those studies we’ve particularly enjoyed reading and writing about in the past 12 months. In August, a landmark paper by Nookala et al., (2012) … Continue reading →... Read more »
Baba M, Keller JR, Sun HW, Resch W, Kuchen S, Suh HC, Hasumi H, Hasumi Y, Kieffer-Kwon KR, Gonzalez CG.... (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
Gaur K, Li J, Wang D, Dutta P, Yan SJ, Tsurumi A, Land H, Wu G, & Li WX. (2013) The Birt-Hogg-Dube tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis. Human molecular genetics, 22(2), 284-99. PMID: 23077212
Jeanes A, Gottardi CJ, & Yap AS. (2008) Cadherins and cancer: how does cadherin dysfunction promote tumor progression?. Oncogene, 27(55), 6920-9. PMID: 19029934
Medvetz DA, Khabibullin D, Hariharan V, Ongusaha PP, Goncharova EA, Schlechter T, Darling TN, Hofmann I, Krymskaya VP, Liao JK.... (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). PMID: 23139756
Mekhail K, Rivero-Lopez L, Khacho M, & Lee S. (2006) Restriction of rRNA synthesis by VHL maintains energy equilibrium under hypoxia. Cell cycle (Georgetown, Tex.), 5(20), 2401-13. PMID: 17102617
Nahorski MS, Seabra L, Straatman-Iwanowska A, Wingenfeld A, Reiman A, Lu X, Klomp JA, Teh BT, Hatzfeld M, Gissen P.... (2012) Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis. Human molecular genetics, 21(24), 5268-79. PMID: 22965878
Nookala RK, Langemeyer L, Pacitto A, Ochoa-Montaño B, Donaldson JC, Blaszczyk BK, Chirgadze DY, Barr FA, Bazan JF, & Blundell TL. (2012) Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. Open biology, 2(8), 120071. PMID: 22977732
Park H, Staehling K, Tsang M, Appleby MW, Brunkow ME, Margineantu D, Hockenbery DM, Habib T, Liggitt HD, Carlson G.... (2012) Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development. Immunity, 36(5), 769-81. PMID: 22608497
Rathinam R, Berrier A, & Alahari SK. (2011) Role of Rho GTPases and their regulators in cancer progression. Frontiers in bioscience : a journal and virtual library, 2561-71. PMID: 21622195
Reiman A, Lu X, Seabra L, Boora U, Nahorski MS, Wei W, & Maher ER. (2012) Gene Expression and Protein Array Studies of Folliculin-regulated Pathways. Anticancer research, 32(11), 4663-70. PMID: 23155228
Do you write about peer-reviewed research in your blog? Use ResearchBlogging.org to make it easy for your readers — and others from around the world — to find your serious posts about academic research.
If you don't have a blog, you can still use our site to learn about fascinating developments in cutting-edge research from around the world.