| 1 | ASAH1, SMAPME
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| Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.
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| Yildiz EP, Yesil G, Bektas G, Caliskan M, Tatlı B, Aydinli N, Ozmen M.
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| Clin Neurol Neurosurg 164:47-49. doi: 10.1016/j.clineuro.2017.11.008. Epub 2017 Nov 21.
2018
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| 2 | ACER1, ACER2, ACER3, ASAH1, ASAH2B
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| Ceramidases, roles in sphingolipid metabolism and in health and disease.
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| Coant N, Sakamoto W, Mao C, Hannun YA.
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| Adv Biol Regul 63:122-131. doi: 10.1016/j.jbior.2016.10.002. Epub 2016 Oct 11. Review.
2017
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| 3 | ASAH1
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| Identification of ASAH1 as a susceptibility gene for familial keloids.
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| Santos-Cortez RLP, Hu Y, Sun F, Benahmed-Miniuk F, Tao J, Kanaujiya JK, Ademola S, Fadiora S, Odesina V, Nickerson DA, Bamshad MJ, Olaitan PB, Oluwatosin OM, Leal SM, Reichenberger EJ.
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| Eur J Hum Genet 25(10):1155-1161. doi: 10.1038/ejhg.2017.121. Epub 2017 Jul 26.
2017
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| 4 | ASAH1, MCL1
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| Acid ceramidase is upregulated in AML and represents a novel therapeutic target.
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| Tan SF, Liu X, Fox TE, Barth BM, Sharma A, Turner SD, Awwad A, Dewey A, Doi K, Spitzer B, Shah MV, Morad SA, Desai D, Amin S, Zhu J, Liao J, Yun J, Kester M, Claxton DF, Wang HG, Cabot MC, Schuchman EH, Levine RL, Feith DJ, Loughran TP Jr.
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| Oncotarget 7(50):83208-83222. doi: 10.18632/oncotarget.13079.
2016
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| 5 | ASAH1, FLGD
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| Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
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| Kim SY, Choi SA, Lee S, Lee JS, Hong CR, Lim BC, Kang HJ, Kim KJ, Park SH, Choi M, Chae JH.
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| Am J Med Genet A 170(11):3023-3027. doi: 10.1002/ajmg.a.37846. Epub 2016 Jul 13.
2016
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| 6 | ASAH1
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| ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.
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| Filosto M, Aureli M, Castellotti B, Rinaldi F, Schiumarini D, Valsecchi M, Lualdi S, Mazzotti R, Pensato V, Rota S, Gellera C, Filocamo M, Padovani A.
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| Eur J Hum Genet 24(11):1578-1583. doi: 10.1038/ejhg.2016.28. Epub 2016 Mar 30.
2016
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| 7 | ASAH1
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| Acid ceramidase is associated with an improved prognosis in both DCIS and invasive breast cancer.
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| Sänger N, Ruckhäberle E, Györffy B, Engels K, Heinrich T, Fehm T, Graf A, Holtrich U, Becker S, Karn T.
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| Mol Oncol 9(1):58-67. doi: 10.1016/j.molonc.2014.07.016. Epub 2014 Jul 31.
2015
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| 8 | AKT2, ASAH1
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| Akt2 and acid ceramidase cooperate to induce cell invasion and resistance to apoptosis.
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| Berndt N, Patel R, Yang H, Balasis ME, Sebti SM.
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| Cell Cycle 12(13):2024-32. doi: 10.4161/cc.25043. Epub 2013 Jun 6.
2013
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| 9 | ASAH1, SMAPME
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| Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1.
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| Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, Garcia V, Servidei S, Bertini E, Castro-Giner F, Renda Y, Carpentier S, Andrieu-Abadie N, Gut I, Levade T, Topaloglu H, Melki J.
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| Am J Hum Genet 91(1):5-14. Epub 2012 Jun 14.
2012
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| 10 | ASAH1, NR5A1
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| Acid ceramidase (ASAH1) represses steroidogenic factor 1-dependent gene transcription in H295R human adrenocortical cells by binding to the receptor.
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| Lucki NC, Li D, Bandyopadhyay S, Wang E, Merrill AH, Sewer MB.
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| Mol Cell Biol 32(21):4419-31. doi: 10.1128/MCB.00378-12. Epub 2012 Aug 27.
2012
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| 11 | ASAH1
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| Acid ceramidase (ASAH1) is a global regulator of steroidogenic capacity and adrenocortical gene expression.
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| Lucki NC, Bandyopadhyay S, Wang E, Merrill AH, Sewer MB.
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| Mol Endocrinol 26(2):228-43. doi: 10.1210/me.2011-1150. Epub 2012 Jan 19.
2012
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| 12 | ASAH1, IRF8
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| IRF8 regulates acid ceramidase expression to mediate apoptosis and suppresses myelogeneous leukemia.
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| Hu X, Yang D, Zimmerman M, Liu F, Yang J, Kannan S, Burchert A, Szulc Z, Bielawska A, Ozato K, Bhalla K, Liu K.
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| Cancer Res 71(8):2882-91. Epub 2011 Apr 12.
2011
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| 13 | ASAH1
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| Acid ceramidase 1 expression correlates with a better prognosis in ER-positive breast cancer.
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| Ruckhäberle E, Holtrich U, Engels K, Hanker L, Gätje R, Metzler D, Karn T, Kaufmann M, Rody A.
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| Climacteric 12(6):502-13.
2009
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| 14 | ASAH1
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| The cAMP-responsive element binding protein (CREB) regulates the expression of acid ceramidase (ASAH1) in H295R human adrenocortical cells.
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| Lucki N, Sewer MB.
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| Biochim Biophys Acta 1791(8):706-13. Epub 2009 Mar 16.
2009
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| 15 | ACER1, ASAH1
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| Upregulation of the human alkaline ceramidase 1 and acid ceramidase mediates calcium-induced differentiation of epidermal keratinocytes.
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| Sun W, Xu R, Hu W, Jin J, Crellin HA, Bielawski J, Szulc ZM, Thiers BH, Obeid LM, Mao C.
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| J Invest Dermatol 128(2):389-97. Epub 2007 Aug 23.
2008
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| 16 | ASAH1
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| The functional effects of acid ceramidase overexpression in prostate cancer progression and resistance to chemotherapy.
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| Saad AF, Meacham WD, Bai A, Anelli V, Elojeimy S, Mahdy AE, Turner LS, Cheng J, Bielawska A, Bielawski J, Keane TE, Obeid LM, Hannun YA, Norris JS, Liu X.
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| Cancer Biol Ther 6(9):1455-60. Epub 2007 Jun 23.
2007
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| 17 | ACER1, ACER2, ACER3, ASAH1
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| Kinetic characteristics of acidic and alkaline ceramidase in human epidermis.
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| Houben E, Uchida Y, Nieuwenhuizen WF, De Paepe K, Vanhaecke T, Holleran WM, Rogiers V.
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| Skin Pharmacol Physiol 20(4):187-94. Epub 2007 Mar 29.
2007
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| 18 | ASAH1
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| Acid ceramidase and human disease.
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| Park JH, Schuchman EH.
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| Biochim Biophys Acta 1758(12):2133-8. Epub 2006 Sep 1. Review.PMID: 17064658 2006
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| 19 | KLF6, ASAH1
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| KLF6 is one transcription factor involved in regulating acid ceramidase gene expression.
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| Park JH, Eliyahu E, Narla G, DiFeo A, Martignetti JA, Schuchman EH.
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| Biochim Biophys Acta 1732(1-3):82-7. Epub 2006 Jan 26. 2005
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| 20 | ASAH1
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| p53-Independent ceramide formation in human glioma cells during gamma-radiation-induced apoptosis.
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| Hara S, Nakashima S, Kiyono T, Sawada M, Yoshimura S, Iwama T, Banno Y, Shinoda J, Sakai N.
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| Cell Death Differ 11(8):853-61. 2004
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| 21 | ASAH1, FLGD
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| Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
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| BŠr J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K.
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| Hum Mutat 17 : 199-209. 2001
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| 22 | ASAH1, FLGD
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| Human acid ceramidase gene: novel mutations in farber disease.
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| Zhang Z, Mandal AK, Mital A, Popescu N, Zimonjic D, Moser A, Moser H, Mukherjee AB.
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| Mol Genet Metab 70(4):301-9. 2000
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| 23 | ASAH1
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| Human acid ceramidase is overexpressed but not mutated in prostate cancer.
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| Seelan RS, Qian C, Yokomizo A, Bostwick DG, Smith DI, Liu W.
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| Genes Chromosomes Cancer 29(2):137-46. 2000
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| 24 | ASAH1, FLGD
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| The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression.
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| Li CM, Park JH, He X, Levy B, Chen F, Arai K, Adler DA, Disteche CM, Koch J, Sandhoff K, Schuchman EH.
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| Genomics 62(2):223-31 1999
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| 25 | ASAH1
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| Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.
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| Koch J, Gartner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K.
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| J Biol Chem 271(51):33110-5 1996
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| 26 | ASAH1
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| Purification, characterization, and biosynthesis of human acid ceramidase.
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| Bernardo K, Hurwitz R, Zenk T, Desnick RJ, Ferlinz K, Schuchman EH, Sandhoff K.
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| J Biol Chem 270(19):11098-102 1995
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