Publications

2015

Pacitto A, Ascher DB, Wong LH, Blaszczyk BK, Nookala RK, Zhang N, Dokudovskaya
S, Levine TP, Blundell TL. Lst4, the yeast Fnip1/2 orthologue, is a DENN-family
protein. Open Biol. 2015 Dec;5(12). pii: 150174.

Possik E, Ajisebutu A, Manteghi S, Gingras MC, Vijayaraghavan T, Flamand M, Coull B, Schmeisser K, Duchaine T, van Steensel M, Hall DH, Pause A. FLCN and AMPK Confer Resistance to Hyperosmotic Stress via Remodeling of Glycogen Stores. PLoS Genet. 2015 Oct 6;11(10):e1005520

2014

Benusiglio, P., Giraud, S., Deveaux, S., Méjean, A., Correas, J., Joly, D., Timsit, M., Ferlicot, S., Verkarre, V., Abadie, C., Chauveau, D., Leroux, D., Avril, M., Cordier, J., Richard, S. Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet Journal of Rare Diseases. 2014;9(1):163

Dunlop EA, Seifan S, Claessens T, Behrends C, Kamps MA, Rozycka E, Kemp AJ, Nookala RK, Blenis J, Coull BJ, Murray JT, van Steensel MA, Wilkinson S, Tee AR. FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylationAutophagy. 2014 Jul 22;10(10).

Gijezen LM, Vernooij M, Martens H, Oduber CE, Henquet CJ, Starink TM, Prins MH, Menko FH, Nelemans PJ, van Steensel MA. Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trialPLoS One. 2014 Jun 9;9(6):e99071.

Goncharova EA, Goncharov DA, James ML, Atochina-Vasserman EN, Stepanova V, Hong SB, Li H, Gonzales L, Baba M, Linehan WM, Gow AJ, Margulies S, Guttentag S, Schmidt LS, Krymskaya VP. Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPKCell Rep. 2014 Apr 24;7(2):412-23.

Khabibullin D, Medvetz DA, Pinilla M, Hariharan V, Li C, Hergrueter A, Laucho Contreras M, Zhang E, Parkhitko A, Yu JJ, Owen CA, Huang H, Baron RM, Henske EP. Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cellsPhysiol Rep. 2014 Aug 12;2(8). pii: e12107.

Lu X, Boora U, Seabra L, Rabai EM, Fenton J, Reiman A, Nagy Z, Maher ER. 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. 2014 Feb 20;33(8):956-65.

Possik E, Jalali Z, Nouët Y, Yan M, Gingras MC, Schmeisser K, Panaite L, Dupuy F, Kharitidi D, Chotard L, Jones RG, Hall DH, Pause A. Folliculin regulates ampk-dependent autophagy and metabolic stress survivalPLoS Genet. 2014 Apr 24;10(4):e1004273.

Yan M, Gingras MC, Dunlop EA, Nouët Y, Dupuy F, Jalali Z, Possik E, Coull BJ, Kharitidi D, Dydensborg AB, Faubert B, Kamps M, Sabourin S, Preston RS, Davies DM, Roughead T, Chotard L, van Steensel MA, Jones R, Tee AR, Pause A. The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation. J Clin Invest. 2014 Jun 2;124(6):2640-50.

2013

Bastola P, Stratton Y, Kellner E, Mikhaylova O, Yi Y, Sartor MA, Medvedovic M, Biesiada J, Meller J, Czyzyk-Krzeska MF. Folliculin contributes to VHL tumor suppressing activity in renal cancer through regulation of autophagy. PLoS One. 2013 Jul 29;8(7):e70030.

Pradella LM, Lang M, Kurelac I, Mariani E, Guerra F, Zuntini R, Tallini G, MacKay A, Reis-Filho JS, Seri M, Turchetti D, Gasparre G. Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumoursEur J Hum Genet. 2013 Oct;21(10):1169-72.

Wong SP, Harbottle RP. Genetic modification of dividing cells using episomally maintained S/MAR DNA vectorsMol Ther Nucleic Acids. 2013 Aug 13;2:e115.

2012

Jandaghi AB, Daliri S, Kikkawa M, Khaledi M, Soleimanifar N, Alizadeh A, Habibzadeh M, Haghi-Ashtiani MT, Seyama K, Rezaei N. The discovery of a Persian family with a form of Birt–Hogg–Dubé syndrome lacking the typical cutaneous stigmata of the syndromeClinical Imaging. 2012 Apr 25.

Medvetz DA, Khabibullin D, Hariharan V, Ongusaha PP, Goncharova EA, Schlechter T, Darling TN, Hofmann I, Krymskaya VP, Liao JK, Huang H, Henske EP. Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesionPLoS One. 2012;7(11):e47842.

Nahorski MS, Seabra L, Straatman-Iwanowska A, Wingenfeld A, Reiman A, Lu X, Klomp JA, Teh BT, Hatzfeld M, Gissen P, Maher ER. Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesisHum Mol Genet. 2012 Dec 15;21(24):5268-79.

Nookala RK, Langemeyer L, Pacitto A, Ochoa-Montaño B, Donaldson JC, Blaszczyk BK, Chirgadze DY, Barr FA, Bazan JF, Blundell TL. Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancerOpen Biol. 2012 8 Aug.

Reiman A, Lu X, Seabra L, Boora U, Nahorski MS, Wei W, Maher ER. Gene expression and protein array studies of folliculin-regulated pathways. Anticancer Res. 2012 Nov;32(11):4663-70.

2011

Cash TP, Gruber JJ, Hartman TR, Henske EP, Simon MC. Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGF-beta-mediated transcription.Oncogene. 2011 Jun 2;30(22):2534-46.

Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH, de Jong MM, Bongers EM, Johannesma PC, Postmus PE, van Moorselaar RJ, van Waesberghe JH, Starink TM, van Steensel MA, Gille JJ, Menko FH. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD familiesBr J Cancer. 2011 Dec 6;105(12):1912-9.

Lu X, Wei W, Fenton J, Nahorski MS, Rabai E, Reiman A, Seabra L, Nagy Z, Latif F, Maher ER.Therapeutic Targeting the Loss of the Birt-Hogg-Dube Suppressor GeneMol Cancer Ther. 2011 Jan;10(1):80-9.

Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjöld M, Latif F, Hurst LD, Maher ER. Birt Hogg-Dubé syndrome associated FLCN mutations disrupt protein stabilityHum Mutat. 2011 Apr 28.

Preston RS, Philp A, Claessens T, Gijezen L, Dydensborg AB, Dunlop EA, Harper KT, Brinkhuizen T, Menko FH, Davies DM, Land SC, Pause A, Baar K, van Steensel MA, Tee AR. Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibilityOncogene. 2011 Mar 10;30(10):1159-73.

2010

Lim DH, Rehal PK, Nahorski MS, Macdonald F, Claessens T, Van Geel M, Gijezen L, Gille JJ, Giraud S, Richard S, van Steensel M, Menko FH, Maher ER. A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) geneHum Mutat. 2010;31(1):E1043-51.

Nahorski MS, Lim DH, Martin L, Gille JJ, McKay K, Rehal PK, Ploeger HM, van Steensel M, Tomlinson IP, Latif F, Menko FH, Maher ER. Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancerJ Med Genet. 2010;47(6):385-90.

2009

Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER; European BHD Consortium. Birt-Hogg-Dubé syndrome: diagnosis and managementLancet Oncol. 2009 Dec; 10(12):1199-206.