Photo of Elizabeth Henske,  MD

Elizabeth Henske, MD

Brigham And Women's Hospital

Brigham And Women's Hospital
Phone: (617) 355-9049
Fax: (617) 355-9016


ehenske@partners.org

Elizabeth Henske, MD

Brigham And Women's Hospital

EDUCATIONAL TITLES

  • Professor, Medicine, Harvard Medical School

DF/HCC PROGRAM AFFILIATION

Research Abstract

The primary focus of my laboratory is the pathogenesis of tuberous sclerosis complex (TSC) and the related disorder, lymphangioleiomyomatosis (LAM). TSC is a multisystem disorder in which the manifestations can include tumors in the brain, heart, kidney, and skin, as well as mental retardation and autism. My laboratory has a particular interest in the renal manifestations of TSC (cysts, angiomyolipomas, and carcinomas) and in the pulmonary manifestation, LAM. About 30% of women with TSC develop LAM, which is an unusual lung disease in which benign-appearing smooth muscle cells proliferate extensively in the lungs, leading to cystic, emphysema-like lung destruction and lung failure. LAM pathogenesis appears to involve one of the most unusual pathogenic mechanisms in human disease: the metastasis of histologically benign cells.

The protein products of the TSC1 and TSC2 genes (hamartin and tuberin, respectively) physically interact to inhibit the activity of the kinase, TORC1. This mTOR inhibition is achieved the small GTPase Rheb which is regulated by the GAP (GTPase activating protein) region of TSC2. A great deal of attention has been focused on the role of TORC1, which is inhibited by Rapamycin, in the pathogenesis of TSC and LAM. A key area of uncertainty is whether Rheb has TORC1-independent targets that are disease-relevant.

Currently the laboratory is examining 1) the mechanisms through which estrogen may promote the metastasis of TSC2-null cells, thereby promoting LAM pathogenesis, 2) the role of the TSC pathway in neural development, using a Drosophila model, and 3) the connections between the TSC proteins and the Birt-Hogg-Dube (BHD) protein. BHD (like TSC) is associated with renal cell carcinoma and cystic lung disease. In S. Pombe we have found that the BHD homolog functions in the TOR signaling pathway, but in opposition to the TSC proteins.

Publications from Harvard Catalyst Profiles

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  • Gibbons E, Taya M, Wu H, Lopa SH, Moss J, Henske EP, McCormack FX, Hammes SR. Glycoprotein non-metastatic melanoma protein B promotes tumor growth and is a biomarker for lymphangioleiomyomatosis. Endocr. Relat. Cancer 2024. PubMed
  • Mekahli D, Müller RU, Marlais M, Wlodkowski T, Haeberle S, de Argumedo ML, Bergmann C, Breysem L, Fladrowski C, Henske EP, Janssens P, Jouret F, Kingswood JC, Lattouf JB, Lilien M, Maleux G, Rozenberg M, Siemer S, Devuyst O, Schaefer F, Kwiatkowski DJ, Rouvière O, Bissler J. Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group. Nat Rev Nephrol 2024. PubMed
  • Alesi N, Khabibullin D, Rosenthal DM, Akl EW, Cory PM, Alchoueiry M, Salem S, Daou M, Gibbons WF, Chen JA, Zhang L, Filippakis H, Graciotti L, Miceli C, Monfregola J, Vilardo C, Morroni M, Di Malta C, Napolitano G, Ballabio A, Henske EP. TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex. Nat Commun 2024; 15:406. PubMed
  • Alchoueiry M, Cornejo K, Henske EP. Kidney cancer: Links between hereditary syndromes and sporadic tumorigenesis. Semin Diagn Pathol 2024; 41:1-7. PubMed
  • Du H, Yang YC, Liu HJ, Yuan M, Asara JM, Wong KK, Henske EP, Singh M, Kwiatkowski DJ. Bi-steric mTORC1 inhibitors induce apoptotic cell death in tumor models with hyperactivated mTORC1. J Clin Invest 2023. PubMed
  • Henske EP, Cheng L, Hakimi AA, Choueiri TK, Braun DA. Chromophobe renal cell sup. Cancer Cell 2023; 41:1383-1388. PubMed
  • Liu HJ, Du H, Khabibullin D, Zarei M, Wei K, Freeman GJ, Kwiatkowski DJ, Henske EP. mTORC1 upregulates B7-H3/CD276 to inhibit antitumor T cells and drive tumor immune evasion. Nat Commun 2023; 14:1214. PubMed
  • Du Y, Guo M, Wu Y, Wagner A, Perl AK, Wikenheiser-Brokamp K, Yu J, Gupta N, Kopras E, Krymskaya V, Obraztsova K, Tang Y, Kwiatkowski D, Henske EP, McCormack F, Xu Y. Lymphangioleiomyomatosis (LAM) Cell Atlas. Thorax 2023; 78:85-87. PubMed
  • Champion JD, Dodd KM, Lam HC, Alzahrani MAM, Seifan S, Rad E, Scourfield DO, Fishel ML, Calver BL, Ager A, Henske EP, Davies DM, Kelley MR, Tee AR. Drug Inhibition of Redox Factor-1 Restores Hypoxia-Driven Changes in Tuberous Sclerosis Complex 2 Deficient Cells. Cancers (Basel) 2022. PubMed
  • McNamara MC, Hosios AM, Torrence ME, Zhao T, Fraser C, Wilkinson M, Kwiatkowski DJ, Henske EP, Wu CL, Sarosiek KA, Valvezan AJ, Manning BD. Reciprocal effects of mTOR inhibitors on pro-survival proteins dictate therapeutic responses in tuberous sclerosis complex. iScience 2022; 25:105458. PubMed
  • Shrestha S, Adib E, Imani J, Aguiar DJ, Lamattina AM, Tassew DD, Henske EP, Perrella MA, Priolo C, El-Chemaly S. Angiotensin II receptor type 1 blockade regulates Klotho expression to induce TSC2-deficient cell death. J Biol Chem 2022; 298:102580. PubMed
  • Tang Y, Kwiatkowski DJ, Henske EP. Midkine expression by stem-like tumor cells drives persistence to mTOR inhibition and an immune-suppressive microenvironment. Nat Commun 2022; 13:5018. PubMed
  • Zhang L, Hobeika CS, Khabibullin D, Yu D, Filippakis H, Alchoueiry M, Tang Y, Lam HC, Tsvetkov P, Georgiou G, Lamb C, Stone E, Puigserver P, Priolo C, Henske EP. Hypersensitivity to ferroptosis in chromophobe RCC is mediated by a glutathione metabolic dependency and cystine import via solute carrier family 7 member 11. Proc Natl Acad Sci U S A 2022; 119:e2122840119. PubMed
  • Giannikou K, Martin KR, Abdel-Azim AG, Pamir KJ, Hougard TR, Bagwe S, Tang Y, MacKeigan JP, Kwiatkowski DJ, Henske EP, Lam HC. Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex. Front Genet 2022; 13:917993. PubMed
  • Qiu M, Tang Y, Chen J, Muriph R, Ye Z, Huang C, Evans J, Henske EP, Xu Q. Lung-selective mRNA delivery of synthetic lipid nanoparticles for the treatment of pulmonary lymphangioleiomyomatosis. Proc Natl Acad Sci U S A 2022. PubMed
  • Shrestha S, Lamattina A, Pacheco-Rodriguez G, Ng J, Liu X, Sonawane A, Imani J, Qiu W, Kosmas K, Louis P, Hentschel A, Steagall WK, Onishi R, Christou H, Henske EP, Glass K, Perrella MA, Moss J, Tantisira K, El-Chemaly S. ETV2 regulates PARP-1 binding protein to induce ER stress-mediated death in tuberin-deficient cells. Life Sci Alliance 2022. PubMed
  • Henske EP, Cornejo KM, Wu CL. Renal Cell Carcinoma in Tuberous Sclerosis Complex. Genes (Basel) 2021. PubMed
  • Kirkpatrick JD, Soleimany AP, Dudani JS, Liu HJ, Lam HC, Priolo C, Henske EP, Bhatia SN. Protease activity sensors enable real-time treatment response monitoring in lymphangioleiomyomatosis. Eur. Respir. J. 2021. PubMed
  • Bratslavsky G, Mendhiratta N, Daneshvar M, Brugarolas J, Ball MW, Metwalli A, Nathanson KL, Pierorazio PM, Boris RS, Singer EA, Carlo MI, Daly MB, Henske EP, Hyatt C, Middleton L, Morris G, Jeong A, Narayan V, Rathmell WK, Vaishampayan U, Lee BH, Battle D, Hall MJ, Hafez K, Jewett MAS, Karamboulas C, Pal SK, Hakimi AA, Kutikov A, Iliopoulos O, Linehan WM, Jonasch E, Srinivasan R, Shuch B. Genetic risk assessment for hereditary renal cell carcinoma: Clinical consensus statement. Cancer 2021. PubMed
  • Kosmas K, Filippakis H, Khabibullin D, Turkiewicz M, Lam HC, Yu J, Kedersha NL, Anderson PJ, Henske EP. TSC2 Interacts with HDLBP/Vigilin and Regulates Stress Granule Formation. Mol Cancer Res 2021. PubMed
  • Kovalenko A, Sanin A, Kosmas K, Zhang L, Wang J, Akl EW, Giannikou K, Probst CK, Hougard TR, Rue RW, Krymskaya VP, Asara JM, Lam HC, Kwiatkowski DJ, Henske EP, Filippakis H. Therapeutic targeting of DGKA-mediated macropinocytosis leads to phospholipid reprogramming in Tuberous Sclerosis Complex. Cancer Res 2021. PubMed
  • Barone S, Zahedi K, Brooks M, Henske EP, Yang Y, Zhang E, Bissler JJ, Yu JJ, Soleimani M. Kidney intercalated cells and the transcription factor FOXi1 drive cystogenesis in tuberous sclerosis complex. Proc Natl Acad Sci U S A 2021. PubMed
  • Alesi N, Akl EW, Khabibullin D, Liu HJ, Nidhiry AS, Garner ER, Filippakis H, Lam HC, Shi W, Viswanathan SR, Morroni M, Ferguson SM, Henske EP. TSC2 regulates lysosome biogenesis via a non-canonical RAGC and TFEB-dependent mechanism. Nat Commun 2021; 12:4245. PubMed
  • Tang Y, Kwiatkowski DJ, Henske EP. mTORC1 hyperactivation in lymphangioleiomyomatosis leads to upregulation in type II pneumocytes: implications for COVID-19. Eur. Respir. J. 2021. PubMed
  • Rehbein U, Prentzell MT, Cadena Sandoval M, Heberle AM, Henske EP, Opitz CA, Thedieck K. The TSC Complex-mTORC1 Axis: From Lysosomes to Stress Granules and Back. Front Cell Dev Biol 2021; 9:751892. PubMed
  • Wang J, Filippakis H, Hougard T, Du H, Ye C, Liu HJ, Zhang L, Hindi K, Bagwe S, Nijmeh J, Asara JM, Shi W, El-Chemaly S, Henske EP, Lam HC. Interleukin-6 mediates PSAT1 expression and serine metabolism in TSC2-deficient cells. Proc Natl Acad Sci U S A 2021. PubMed
  • Carbone M, Arron ST, Beutler B, Bononi A, Cavenee W, Cleaver JE, Croce CM, D'Andrea A, Foulkes WD, Gaudino G, Groden JL, Henske EP, Hickson ID, Hwang PM, Kolodner RD, Mak TW, Malkin D, Monnat RJ, Novelli F, Pass HI, Petrini JH, Schmidt LS, Yang H. Tumour predisposition and cancer syndromes as models to study gene-environment interactions. Nat Rev Cancer 2020. PubMed
  • Zhang L, Henske EP. Chromophobe renal cell carcinoma: New genetic and metabolic insights. Urol Oncol 2020. PubMed
  • Valvezan AJ, McNamara MC, Miller SK, Torrence ME, Asara JM, Henske EP, Manning BD. IMPDH inhibitors for antitumor therapy in tuberous sclerosis complex. JCI Insight 2020. PubMed
  • Kennedy JC, Khabibullin D, Boku Y, Shi W, Henske EP. New Developments in the Pathogenesis of Pulmonary Cysts in Birt-Hogg-Dubé Syndrome. Semin Respir Crit Care Med 2020; 41:247-255. PubMed
  • El-Chemaly S, Taveira-DaSilva A, Bagwe S, Klonowska K, Machado T, Lamattina AM, Goldberg HJ, Jones AM, Julien-Williams P, Maurer R, Rosas IO, Henske EP, Moss J, Kwiatkowski DJ. Celecoxib in LAM: Results of a Phase I Clinical Trial. Eur. Respir. J. 2020. PubMed
  • Zarei M, Du H, Nassar AH, Yan RE, Giannikou K, Johnson SH, Lam HC, Henske EP, Wang Y, Zhang T, Asara J, Kwiatkowski DJ. Tumors with TSC mutations are sensitive to CDK7 inhibition through NRF2 and glutathione depletion. J Exp Med 2019. PubMed
  • Liu HJ, Krymskaya VP, Henske EP. Immunotherapy for Lymphangioleiomyomatosis and Tuberous Sclerosis: Progress and Future Directions. Chest 2019. PubMed
  • Liu HJ, Lam HC, Baglini CV, Nijmeh J, Cottrill AA, Chan SY, Henske EP. Rapamycin-upregulated miR-29b promotes mTORC1-hyperactive cell growth in TSC2-deficient cells by downregulating tumor suppressor retinoic acid receptor β (RARβ). Oncogene 2019. PubMed
  • Tang Y, El-Chemaly S, Taveira-Dasilva A, Goldberg HJ, Bagwe S, Rosas IO, Moss J, Priolo C, Henske EP. Metabolic Changes in Patients With Lymphangioleiomyomatosis Treated With Sirolimus and Hydroxychloroquine. Chest 2019. PubMed
  • Ogorek B, Hamieh L, Lasseter K, Bagwe S, Machado T, Herranz-Ors C, Thorner AR, Nag A, Gulleman P, Giannikou K, Young LR, Pujana MÀ, Darling TN, El-Chemaly S, Moss J, Henske EP, Kwiatkowski DJ. Generalized mosaicism for mutation in isolated Lymphangioleiomyomatosis. Eur. Respir. J. 2019. PubMed
  • Kennedy JC, Khabibullin D, Hougard T, Nijmeh J, Shi W, Henske EP. Loss of FLCN inhibits canonical WNT signaling via TFE3. Hum Mol Genet 2019. PubMed
  • Jones AT, Yang J, Narov K, Henske EP, Sampson JR, Shen MH. Allosteric and ATP-Competitive Inhibitors of mTOR Effectively Suppress Tumor Progression-Associated Epithelial-Mesenchymal Transition in the Kidneys of Tsc2 Mice. Neoplasia 2019; 21:731-739. PubMed
  • Kim W, Giannikou K, Dreier JR, Lee S, Tyburczy ME, Silverman EK, Radzikowska E, Wu S, Wu CL, Henske EP, Hunninghake G, Carel H, Roman A, Pujana MA, Moss J, Won S, Kwiatkowski DJ. A genome-wide association study implicates in lymphangioleiomyomatosis pathogenesis. Eur. Respir. J. 2019. PubMed
  • Cho JH, Patel B, Bonala S, Mansouri H, Manne S, Vadrevu SK, Ghouse S, Kung CP, Murphy ME, Astrinidis A, Henske EP, Kwiatkowski DJ, Markiewski MM, Karbowniczek M. The Codon 72 Polymorphism Contributes to TSC Tumorigenesis through the Notch-Nodal Axis. Mol Cancer Res 2019. PubMed
  • Lamattina AM, Poli S, Kidambi P, Bagwe S, Courtwright A, Louis PH, Shrestha S, Stump B, Goldberg HJ, Thiele EA, Rosas I, Henske EP, El-Chemaly S. Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis. Orphanet J Rare Dis 2019; 14:72. PubMed
  • Liu HJ, Henske EP. Vitamin D binding protein: a new biomarker of disease severity in lymphangioleiomyomatosis. Eur. Respir. J. 2018. PubMed
  • Filippakis H, Belaid A, Siroky B, Wu C, Alesi N, Hougard T, Nijmeh J, Lam HC, Henske EP. Vps34-mediated macropinocytosis in Tuberous Sclerosis Complex 2-deficient cells supports tumorigenesis. Sci Rep 2018; 8:14161. PubMed
  • Lam HC, Siroky BJ, Henske EP. Renal disease in tuberous sclerosis complex: pathogenesis and therapy. Nat Rev Nephrol 2018. PubMed
  • Lamattina AM, Taveira-Dasilva A, Goldberg HJ, Bagwe S, Cui Y, Rosas IO, Moss J, Henske EP, El-Chemaly S. Circulating Biomarkers From the Phase 1 trial of Sirolimus and Autophagy Inhibition for Patients With Lymphangioleiomyomatosis. Chest 2018. PubMed
  • Gupta N, Henske EP. Pulmonary manifestations in tuberous sclerosis complex. Am J Med Genet C Semin Med Genet 2018. PubMed
  • Priolo C, Khabibullin D, Reznik E, Filippakis H, Ogórek B, Kavanagh TR, Nijmeh J, Herbert ZT, Asara JM, Kwiatkowski DJ, Wu CL, Henske EP. Impairment of gamma-glutamyl transferase 1 activity in the metabolic pathogenesis of chromophobe renal cell carcinoma. Proc Natl Acad Sci U S A 2018; 115:E6274-E6282. PubMed
  • Ricketts CJ, De Cubas AA, Fan H, Smith CC, Lang M, Reznik E, Bowlby R, Gibb EA, Akbani R, Beroukhim R, Bottaro DP, Choueiri TK, Gibbs RA, Godwin AK, Haake S, Hakimi AA, Henske EP, Hsieh JJ, Ho TH, Kanchi RS, Krishnan B, Kwiatkowski DJ, Lui W, Merino MJ, Mills GB, Myers J, Nickerson ML, Reuter VE, Schmidt LS, Shelley CS, Shen H, Shuch B, Signoretti S, Srinivasan R, Tamboli P, Thomas G, Vincent BG, Vocke CD, Wheeler DA, Yang L, Kim WY, Robertson AG, , Spellman PT, Rathmell WK, Linehan WM. The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep 2018; 23:3698. PubMed
  • Liu HJ, Lizotte PH, Du H, Speranza MC, Lam HC, Vaughan S, Alesi N, Wong KK, Freeman GJ, Sharpe AH, Henske EP. TSC2-deficient tumors have evidence of T cell exhaustion and respond to anti-PD-1/anti-CTLA-4 immunotherapy. JCI Insight 2018. PubMed
  • Ricketts CJ, De Cubas AA, Fan H, Smith CC, Lang M, Reznik E, Bowlby R, Gibb EA, Akbani R, Beroukhim R, Bottaro DP, Choueiri TK, Gibbs RA, Godwin AK, Haake S, Hakimi AA, Henske EP, Hsieh JJ, Ho TH, Kanchi RS, Krishnan B, Kwaitkowski DJ, Lui W, Merino MJ, Mills GB, Myers J, Nickerson ML, Reuter VE, Schmidt LS, Shelley CS, Shen H, Shuch B, Signoretti S, Srinivasan R, Tamboli P, Thomas G, Vincent BG, Vocke CD, Wheeler DA, Yang L, Kim WT, Robertson AG, , Spellman PT, Rathmell WK, Linehan WM. The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep 2018; 23:313-326.e5. PubMed
  • Ogórek B, Lam HC, Khabibullin D, Liu HJ, Nijmeh J, Triboulet R, Kwiatkowski DJ, Gregory RI, Henske EP. TSC2 Regulates microRNA Biogenesis via mTORC1 and GSK3β. Hum Mol Genet 2018. PubMed
  • Nijmeh J, El-Chemaly S, Henske EP. Emerging biomarkers of lymphangioleiomyomatosis. Expert Rev Respir Med 2018; 12:95-102. PubMed
  • Cho JH, Patel B, Bonala S, Manne S, Zhou Y, Vadrevu SK, Patel J, Peronaci M, Ghouse S, Henske EP, Roegiers F, Giannikou K, Kwiatkowski DJ, Mansouri H, Markiewski MM, White B, Karbowniczek M. Notch transactivates Rheb to maintain the multipotency of TSC-null cells. Nat Commun 2017; 8:1848. PubMed
  • Valvezan AJ, Turner M, Belaid A, Lam HC, Miller SK, McNamara MC, Baglini C, Housden BE, Perrimon N, Kwiatkowski DJ, Asara JM, Henske EP, Manning BD. mTORC1 Couples Nucleotide Synthesis to Nucleotide Demand Resulting in a Targetable Metabolic Vulnerability. Cancer Cell 2017; 32:624-638.e5. PubMed
  • Julian LM, Delaney SP, Wang Y, Goldberg AA, Doré C, Yockell-Lelièvre J, Tam RY, Giannikou K, McMurray F, Shoichet MS, Harper ME, Henske EP, Kwiatkowski DJ, Darling TN, Moss J, Kristof AS, Stanford WL. Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis. Cancer Res 2017. PubMed
  • Lam HC, Baglini CV, Lope AL, Parkhitko AA, Liu HJ, Alesi N, Malinowska IA, Ebrahimi-Fakhari D, Saffari A, Yu JJ, Pereira A, Khabibullin D, Ogorek B, Nijmeh J, Kavanagh T, Handen A, Chan SY, Asara JM, Oldham WM, Diaz-Meco MT, Moscat J, Sahin M, Priolo C, Henske EP. p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. Cancer Res 2017; 77:3255-3267. PubMed
  • Filippakis H, Alesi N, Ogorek B, Nijmeh J, Khabibullin D, Gutierrez C, Valvezan AJ, Cunningham J, Priolo C, Henske EP. Lysosomal regulation of cholesterol homeostasis in tuberous sclerosis complex is mediated via NPC1 and LDL-R. 2017; 8:38099-38112. PubMed
  • Zhang Y, Kwok-Shing Ng P, Kucherlapati M, Chen F, Liu Y, Tsang YH, de Velasco G, Jeong KJ, Akbani R, Hadjipanayis A, Pantazi A, Bristow CA, Lee E, Mahadeshwar HS, Tang J, Zhang J, Yang L, Seth S, Lee S, Ren X, Song X, Sun H, Seidman J, Luquette LJ, Xi R, Chin L, Protopopov A, Westbrook TF, Shelley CS, Choueiri TK, Ittmann M, Van Waes C, Weinstein JN, Liang H, Henske EP, Godwin AK, Park PJ, Kucherlapati R, Scott KL, Mills GB, Kwiatkowski DJ, Creighton CJ. A Pan-Cancer Proteogenomic Atlas of PI3K/AKT/mTOR Pathway Alterations. Cancer Cell 2017; 31:820-832.e3. PubMed
  • Cui Y, Steagall WK, Lamattina AM, Pacheco-Rodriguez G, Stylianou M, Kidambi P, Stump B, Golzarri F, Rosas IO, Priolo C, Henske EP, Moss J, El-Chemaly S. Aberrant SYK Kinase Signaling Is Essential for Tumorigenesis Induced by TSC2 Inactivation. Cancer Res 2017; 77:1492-1502. PubMed
  • El-Chemaly S, Taveira-Dasilva A, Goldberg HJ, Peters E, Haughey M, Bienfang D, Jones AM, Julien-Williams P, Cui Y, Villalba JA, Bagwe S, Maurer R, Rosas IO, Moss J, Henske EP. Sirolimus and Autophagy Inhibition in LAM: Results of a Phase I Clinical Trial. Chest 2017. PubMed
  • Lam HC, Nijmeh J, Henske EP. New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex. J Pathol 2017; 241:219-225. PubMed
  • Ren S, Luo Y, Chen H, Warburton D, Lam HC, Wang LL, Chen P, Henske EP, Shi W. Inactivation of Tsc2 in Mesoderm-Derived Cells Causes Polycystic Kidney Lesions and Impairs Lung Alveolarization. Am J Pathol 2016; 186:3261-3272. PubMed
  • Li C, Li N, Liu X, Zhang EY, Sun Y, Masuda K, Li J, Sun J, Morrison T, Li X, Chen Y, Wang J, Karim NA, Zhang Y, Blenis J, Reginato MJ, Henske EP, Yu JJ. Proapoptotic protein Bim attenuates estrogen-enhanced survival in lymphangioleiomyomatosis. JCI Insight 2016; 1:e86629. PubMed
  • Peri S, Caretti E, Tricarico R, Devarajan K, Cheung M, Sementino E, Menges CW, Nicolas E, Vanderveer LA, Howard S, Conrad P, Crowell JA, Campbell KS, Ross EA, Godwin AK, Yeung AT, Clapper ML, Uzzo RG, Henske EP, Ricketts CJ, Vocke CD, Linehan WM, Testa JR, Bellacosa A, Kopelovich L, Knudson AG. Haploinsufficiency in tumor predisposition syndromes: altered genomic transcription in morphologically normal cells heterozygous for VHL or TSC mutation. 2016. PubMed
  • McCormack FX, Gupta N, Finlay GR, Young LR, Taveira-DaSilva AM, Glasgow CG, Steagall WK, Johnson SR, Sahn SA, Ryu JH, Strange C, Seyama K, Sullivan EJ, Kotloff RM, Downey GP, Chapman JT, Han MK, D'Armiento JM, Inoue Y, Henske EP, Bissler JJ, Colby TV, Kinder BW, Wikenheiser-Brokamp KA, Brown KK, Cordier JF, Meyer C, Cottin V, Brozek JL, Smith K, Wilson KC, Moss J, . Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management. Am J Respir Crit Care Med 2016; 194:748-61. PubMed
  • Giannikou K, Malinowska IA, Pugh TJ, Yan R, Tseng YY, Oh C, Kim J, Tyburczy ME, Chekaluk Y, Liu Y, Alesi N, Finlay GA, Wu CL, Signoretti S, Meyerson M, Getz G, Boehm JS, Henske EP, Kwiatkowski DJ. Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. PLoS Genet. 2016; 12:e1006242. PubMed
  • Yue M, Pacheco G, Cheng T, Li J, Wang Y, Henske EP, Schuger L. Evidence Supporting a Lymphatic Endothelium Origin for Angiomyolipoma, a TSC2(-) Tumor Related to Lymphangioleiomyomatosis. Am J Pathol 2016; 186:1825-36. PubMed
  • Chen F, Zhang Y, Şenbabaoğlu Y, Ciriello G, Yang L, Reznik E, Shuch B, Micevic G, De Velasco G, Shinbrot E, Noble MS, Lu Y, Covington KR, Xi L, Drummond JA, Muzny D, Kang H, Lee J, Tamboli P, Reuter V, Shelley CS, Kaipparettu BA, Bottaro DP, Godwin AK, Gibbs RA, Getz G, Kucherlapati R, Park PJ, Sander C, Henske EP, Zhou JH, Kwiatkowski DJ, Ho TH, Choueiri TK, Hsieh JJ, Akbani R, Mills GB, Hakimi AA, Wheeler DA, Creighton CJ. Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. Cell Rep 2016; 14:2476-89. PubMed
  • Priolo C, Ricoult SJ, Khabibullin D, Filippakis H, Yu J, Manning BD, Clish C, Henske EP. Tuberous sclerosis complex 2 loss increases lysophosphatidylcholine synthesis in lymphangioleiomyomatosis. Am J Respir Cell Mol Biol 2015. PubMed
  • El-Chemaly S, Henske EP. The next breakthrough in LAM clinical trials may be their design: challenges in design and execution of future LAM clinical trials. Expert Rev Respir Med 2015; 9:195-204. PubMed
  • Medvetz D, Sun Y, Li C, Khabibullin D, Balan M, Parkhitko A, Priolo C, Asara JM, Pal S, Yu J, Henske EP. High-throughput drug screen identifies chelerythrine as a selective inducer of death in a TSC2-null setting. Mol Cancer Res 2015. PubMed
  • Medvetz D, Priolo C, Henske EP. Therapeutic targeting of cellular metabolism in cells with hyperactive mTORC1: a paradigm shift. Mol Cancer Res 2015. PubMed
  • Liang N, Zhang C, Dill P, Panasyuk G, Pion D, Koka V, Gallazzini M, Olson EN, Lam H, Henske EP, Dong Z, Apte U, Pallet N, Johnson RL, Terzi F, Kwiatkowski DJ, Scoazec JY, Martignoni G, Pende M. Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex. J Exp Med 2014; 211:2249-63. PubMed
  • Davis CF, Ricketts CJ, Wang M, Yang L, Cherniack AD, Shen H, Buhay C, Kang H, Kim SC, Fahey CC, Hacker KE, Bhanot G, Gordenin DA, Chu A, Gunaratne PH, Biehl M, Seth S, Kaipparettu BA, Bristow CA, Donehower LA, Wallen EM, Smith AB, Tickoo SK, Tamboli P, Reuter V, Schmidt LS, Hsieh JJ, Choueiri TK, Hakimi AA, , Chin L, Meyerson M, Kucherlapati R, Park WY, Robertson AG, Laird PW, Henske EP, Kwiatkowski DJ, Park PJ, Morgan M, Shuch B, Muzny D, Wheeler DA, Linehan WM, Gibbs RA, Rathmell WK, Creighton CJ. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell 2014; 26:319-30. PubMed
  • 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 cells. Physiol Rep 2014. PubMed
  • Yang P, Cornejo KM, Sadow PM, Cheng L, Wang M, Xiao Y, Jiang Z, Oliva E, Jozwiak S, Nussbaum RL, Feldman AS, Paul E, Thiele EA, Yu JJ, Henske EP, Kwiatkowski DJ, Young RH, Wu CL. Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol 2014; 38:895-909. PubMed
  • El-Chemaly S, Henske EP. Towards personalised therapy for lymphangioleiomyomatosis: lessons from cancer. Eur Respir Rev 2014; 23:30-5. PubMed
  • Parkhitko AA, Priolo C, Coloff JL, Yun J, Wu JJ, Mizumura K, Xu W, Malinowska IA, Yu J, Kwiatkowski DJ, Locasale JW, Asara JM, Choi AM, Finkel T, Henske EP. Autophagy-dependent metabolic reprogramming sensitizes TSC2-deficient cells to the antimetabolite 6-aminonicotinamide. Mol Cancer Res 2014; 12:48-57. PubMed
  • Ma N, Liu Q, Zhang L, Henske EP, Ma Y. TORC1 signaling is governed by two negative regulators in fission yeast. Genetics 2013; 195:457-68. PubMed
  • Gu X, Yu JJ, Ilter D, Blenis N, Henske EP, Blenis J. Integration of mTOR and estrogen-ERK2 signaling in lymphangioleiomyomatosis pathogenesis. Proc Natl Acad Sci U S A 2013; 110:14960-5. PubMed
  • Li C, Zhou X, Sun Y, Zhang E, Mancini JD, Parkhitko A, Morrison TA, Silverman EK, Henske EP, Yu JJ. Faslodex inhibits estradiol-induced extracellular matrix dynamics and lung metastasis in a model of lymphangioleiomyomatosis. Am J Respir Cell Mol Biol 2013. PubMed
  • Csibi A, Fendt SM, Li C, Poulogiannis G, Choo AY, Chapski DJ, Jeong SM, Dempsey JM, Parkhitko A, Morrison T, Henske EP, Haigis MC, Cantley LC, Stephanopoulos G, Yu J, Blenis J. The mTORC1 pathway stimulates glutamine metabolism and cell proliferation by repressing SIRT4. Cell 2013; 153:840-54. PubMed
  • Priolo C, Henske EP. Metabolic reprogramming in polycystic kidney disease. Nat Med 2013; 19:407-9. PubMed
  • Trindade AJ, Medvetz DA, Neuman NA, Myachina F, Yu J, Priolo C, Henske EP. MicroRNA-21 is induced by rapamycin in a model of tuberous sclerosis (TSC) and lymphangioleiomyomatosis (LAM). PLoS ONE 2013; 8:e60014. PubMed
  • McCormack FX, Travis WD, Colby TV, Henske EP, Moss J. Lymphangioleiomyomatosis: calling it what it is: a low-grade, destructive, metastasizing neoplasm. Am J Respir Crit Care Med 2012; 186:1210-2. PubMed
  • Henske EP, McCormack FX. Lymphangioleiomyomatosis - a wolf in sheep's clothing. J Clin Invest 2012; 122:3807-16. PubMed
  • Liu F, Lunsford EP, Tong J, Ashitate Y, Gibbs SL, Yu J, Choi HS, Henske EP, Frangioni JV. Real-time monitoring of tumorigenesis, dissemination, & drug response in a preclinical model of lymphangioleiomyomatosis/tuberous sclerosis complex. PLoS ONE 2012; 7:e38589. PubMed
  • 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 adhesion. PLoS ONE 2012; 7:e47842. PubMed
  • Neuman NA, Henske EP. Non-canonical functions of the tuberous sclerosis complex-Rheb signalling axis. EMBO Mol Med 2011; 3:189-200. PubMed
  • Nurok M, Eslick I, Carvalho CR, Costabel U, D'Armiento J, Glanville AR, Harari S, Henske EP, Inoue Y, Johnson SR, Lacronique J, Lazor R, Moss J, Ruoss SJ, Ryu JH, Seyama K, Watz H, Xu KF, Hohmann EL, Moss F. The International LAM Registry: A Component of an Innovative Web-Based Clinician, Researcher, and Patient-Driven Rare Disease Research Platform. Lymphat Res Biol 2010; 8:81-7. PubMed
  • Yu J, Henske EP. mTOR Activation, Lymphangiogenesis, and Estrogen-Mediated Cell Survival: The "Perfect Storm" of Pro-Metastatic Factors in LAM Pathogenesis. Lymphat Res Biol 2010; 8:43-9. PubMed
  • Yu J, Parkhitko AA, Henske EP. Mammalian target of rapamycin signaling and autophagy: roles in lymphangioleiomyomatosis therapy. Proc Am Thorac Soc 2010; 7:48-53. PubMed
  • Karbowniczek M, Zitserman D, Khabibullin D, Hartman T, Yu J, Morrison T, Nicolas E, Squillace R, Roegiers F, Henske EP. The evolutionarily conserved TSC/Rheb pathway activates Notch in tuberous sclerosis complex and Drosophila external sensory organ development. J Clin Invest 2010; 120:93-102. PubMed
  • Matthew EM, Hart LS, Astrinidis A, Navaraj A, Dolloff NG, Dicker DT, Henske EP, El-Deiry WS. The p53 target Plk2 interacts with TSC proteins impacting mTOR signaling, tumor growth and chemosensitivity under hypoxic conditions. Cell Cycle 2009; 8:4168-75. PubMed
  • Yu JJ,Robb VA,Morrison TA,Ariazi EA,Karbowniczek M,Astrinidis A,Wang C,Hernandez-Cuebas L,Seeholzer LF,Nicolas E,Hensley H,Jordan VC,Walker CL,Henske EP. Estrogen promotes the survival and pulmonary metastasis of tuberin-null cells. Proc Natl Acad Sci U S A 2009; 106:2635-40. PubMed
  • Hartman TR,Liu D,Zilfou JT,Robb V,Morrison T,Watnick T,Henske EP. The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. Hum Mol Genet 2009; 18:151-63. PubMed
  • Karbowniczek M,Spittle CS,Morrison T,Wu H,Henske EP. mTOR is activated in the majority of malignant melanomas. J Invest Dermatol 2008; 128:980-7. PubMed
  • Lee CH,Inoki K,Karbowniczek M,Petroulakis E,Sonenberg N,Henske EP,Guan KL. Constitutive mTOR activation in TSC mutants sensitizes cells to energy starvation and genomic damage via p53. EMBO J 2007; 26:4812-23. PubMed
  • Pugacheva EN,Jablonski SA,Hartman TR,Henske EP,Golemis EA. HEF1-dependent Aurora A activation induces disassembly of the primary cilium. Cell 2007; 129:1351-63. PubMed
  • Kayyali US, Larsen CG, Bashiruddin S, Lewandowski SL, Trivedi CM, Warburton RR, Parkhitko AA, Morrison TA, Henske EP, Chekaluk Y, Kwiatkowski DJ, Finlay GA. Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload. Cardiovasc Pathol ; 24:80-93. PubMed
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