Page 35 - Read Online
P. 35

Marchand-Adam et al. Rare Dis Orphan Drugs J 2023;2:3  https://dx.doi.org/10.20517/rdodj.2022.24  Page 11 of 11

                   severity and treatment response: a prospective analysis of the Multicenter International Lymphangioleiomyomatosis Efficacy of
                   Sirolimus (MILES) trial. Lancet Respir Med 2013;1:445-52.  DOI  PubMed  PMC
               52.      Gupta N, Henske EP. Pulmonary manifestations in tuberous sclerosis complex. Am J Med Genet C Semin Med Genet 2018;178:326-
                   37.  DOI  PubMed  PMC
               53.      Smolarek TA, Wessner LL, McCormack FX, Mylet JC, Menon AG, Henske EP. Evidence that lymphangiomyomatosis is caused by
                   TSC2  mutations:  chromosome  16p13  loss  of  heterozygosity  in  angiomyolipomas  and  lymph  nodes  from  women  with
                   lymphangiomyomatosis. Am J Hum Genet 1998;62:810-5.  DOI  PubMed  PMC
               54.      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.  DOI  PubMed  PMC
               55.      McCarthy C, Gupta N, Johnson SR, Yu JJ, McCormack FX. Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis,
                   and management. Lancet Respir Med 2021;9:1313-27.  DOI  PubMed
               56.      Harari S, Spagnolo P, Cocconcelli E, Luisi F, Cottin V. Recent advances in the pathobiology and clinical management of
                   lymphangioleiomyomatosis. Curr Opin Pulm Med 2018;24:469-76.  DOI  PubMed
               57.      Courtwright  AM,  Goldberg  HJ,  Henske  EP,  El-Chemaly  S.  The  effect  of  mTOR  inhibitors  on  respiratory  infections  in
                   lymphangioleiomyomatosis. Eur Respir Rev 2017;26:160004.  DOI  PubMed  PMC
               58.      Moir LM. Lymphangioleiomyomatosis: Current understanding and potential treatments. Pharmacol Ther 2016;158:114-24.  DOI
                   PubMed
               59.      Chilosi M, Pea M, Martignoni G, et al. Cathepsin-k expression in pulmonary lymphangioleiomyomatosis. Mod Pathol 2009;22:161-
                   166.  DOI  PubMed
               60.      Dongre A, Clements D, Fisher AJ, Johnson SR. Cathepsin K in lymphangioleiomyomatosis: LAM cell-fibroblast interactions enhance
                   protease activity by extracellular acidification. Am J Pathol 2017;187:1750-62.  DOI  PubMed
               61.      Caliò A, Brunelli M, Gobbo S, et al. Cathepsin K: a novel diagnostic and predictive biomarker for renal tumors. Cancers (Basel)
                   2021;13:2441.  DOI  PubMed  PMC
               62.      Rolim  I,  Makupson  M,  Lovrenski  A,  Farver  C.  Cathepsin  K  is  superior  to  HMB45  for  the  diagnosis  of  pulmonary
                   lymphangioleiomyomatosis. Appl Immunohistochem Mol Morphol 2022;30:108-12.  DOI  PubMed
               63.      Westergren-Thorsson G, Hedström U, Nybom A, et al. Increased deposition of glycosaminoglycans and altered structure of heparan
                   sulfate in idiopathic pulmonary fibrosis. Int J Biochem Cell Biol 2017;83:27-38.  DOI  PubMed
               64.      Chazeirat T, Denamur S, Bojarski KK, et al. The abnormal accumulation of heparan sulfate in patients with mucopolysaccharidosis
                   prevents the elastolytic activity of cathepsin V. Carbohydr Polym 2021;253:117261.  DOI  PubMed
               65.      Kant S, Kumar A, Singh SM. Bicarbonate transport inhibitor SITS modulates pH homeostasis triggering apoptosis of Dalton’s
                   lymphoma: implication of novel molecular mechanisms. Mol Cell Biochem 2014;397:167-78.  DOI  PubMed
               66.      Pacchiano F, Carta F, McDonald PC, et al. Ureido-substituted benzenesulfonamides potently inhibit carbonic anhydrase IX and show
                   antimetastatic activity in a model of breast cancer metastasis. J Med Chem 2011;54:1896-902.  DOI  PubMed
               67.      Miller  S,  Stewart  ID,  Clements  D,  Soomro  I,  Babaei-Jadidi  R,  Johnson  SR.  Evolution  of  lung  pathology  in
                   lymphangioleiomyomatosis: associations with disease course and treatment response. J Pathol Clin Res 2020;6:215-26.  DOI  PubMed
                   PMC
               68.      Taveira-Dasilva AM, Stylianou MP, Hedin CJ, Hathaway O, Moss J. Bone mineral density in lymphangioleiomyomatosis. Am J
                   Respir Crit Care Med 2005;171:61-7.  DOI  PubMed
               69.      Iakymenko  OA,  Delma  KS,  Jorda  M,  Kryvenko  ON.  Cathepsin  K  (Clone  EPR19992)  demonstrates  uniformly  positive
                   immunoreactivity in renal oncocytoma, chromophobe renal cell carcinoma, and distal tubules. Int J Surg Pathol 2021;29:600-5.  DOI
                   PubMed
               70.      Seo SU, Woo SM, Kim MW, et al. Cathepsin K inhibition-induced mitochondrial ROS enhances sensitivity of cancer cells to anti-
                   cancer drugs through USP27x-mediated Bim protein stabilization. Redox Biol 2020;30:101422.  DOI  PubMed  PMC
               71.      Bigot P, Chesseron S, Saidi A, et al. Cleavage of occludin by cigarette smoke-elicited cathepsin s increases permeability of lung
                   epithelial cells. Antioxidants (Basel) 2022;12:5.  DOI  PubMed  PMC
   30   31   32   33   34   35   36   37   38   39   40