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Items: 1 to 20 of 86

1.

ASAH1-Related Disorders.

Dyment DA, Bennett SAL, Medin JA, Levade T.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2018 Mar 29.

2.

Endogenous acid ceramidase protects epithelial cells from Porphyromonas gingivalis-induced inflammation in vitro.

Azuma MM, Balani P, Boisvert H, Gil M, Egashira K, Yamaguchi T, Hasturk H, Duncan M, Kawai T, Movila A.

Biochem Biophys Res Commun. 2018 Jan 22;495(4):2383-2389. doi: 10.1016/j.bbrc.2017.12.137. Epub 2017 Dec 24.

PMID:
29278706
3.

Identification of ASAH1 as a susceptibility gene for familial keloids.

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.

Eur J Hum Genet. 2017 Oct;25(10):1155-1161. doi: 10.1038/ejhg.2017.121. Epub 2017 Jul 26.

4.

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

Kernohan KD, Frésard L, Zappala Z, Hartley T, Smith KS, Wagner J, Xu H, McBride A, Bourque PR, Consortium CRC, Bennett SAL, Dyment DA, Boycott KM, Montgomery SB, Warman Chardon J.

Hum Mutat. 2017 Jun;38(6):611-614. doi: 10.1002/humu.23211. Epub 2017 Mar 28.

5.

Acid ceramidase is upregulated in AML and represents a novel therapeutic target.

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.

Oncotarget. 2016 Dec 13;7(50):83208-83222. doi: 10.18632/oncotarget.13079.

6.

Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency.

Teoh HL, Solyom A, Schuchman EH, Mowat D, Roscioli T, Farrar M, Sampaio H.

Pediatrics. 2016 Oct;138(4). pii: e20161068. Epub 2016 Sep 20.

7.

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

Kim SY, Choi SA, Lee S, Lee JS, Hong CR, Lim BC, Kang HJ, Kim KJ, Park SH, Choi M, Chae JH.

Am J Med Genet A. 2016 Nov;170(11):3023-3027. doi: 10.1002/ajmg.a.37846. Epub 2016 Jul 13.

PMID:
27411168
8.

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

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.

Eur J Hum Genet. 2016 Nov;24(11):1578-1583. doi: 10.1038/ejhg.2016.28. Epub 2016 Mar 30.

9.

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.

Bonafé L, Kariminejad A, Li J, Royer-Bertrand B, Garcia V, Mahdavi S, Bozorgmehr B, Lachman RL, Mittaz-Crettol L, Campos-Xavier B, Nampoothiri S, Unger S, Rivolta C, Levade T, Superti-Furga A.

Arthritis Rheumatol. 2016 Sep;68(9):2323-7. doi: 10.1002/art.39659. Epub 2016 Jul 29.

10.

Targeting acid ceramidase sensitises head and neck cancer to cisplatin.

Roh JL, Park JY, Kim EH, Jang HJ.

Eur J Cancer. 2016 Jan;52:163-72. doi: 10.1016/j.ejca.2015.10.056. Epub 2015 Dec 11.

PMID:
26687835
11.

Acid Ceramidase in Melanoma: EXPRESSION, LOCALIZATION, AND EFFECTS OF PHARMACOLOGICAL INHIBITION.

Realini N, Palese F, Pizzirani D, Pontis S, Basit A, Bach A, Ganesan A, Piomelli D.

J Biol Chem. 2016 Jan 29;291(5):2422-34. doi: 10.1074/jbc.M115.666909. Epub 2015 Nov 9.

12.

Acid ceramidase is associated with an improved prognosis in both DCIS and invasive breast cancer.

Sänger N, Ruckhäberle E, Györffy B, Engels K, Heinrich T, Fehm T, Graf A, Holtrich U, Becker S, Karn T.

Mol Oncol. 2015 Jan;9(1):58-67. doi: 10.1016/j.molonc.2014.07.016. Epub 2014 Jul 31.

13.

Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.

Bashyam MD, Chaudhary AK, Kiran M, Reddy V, Nagarajaram HA, Dalal A, Bashyam L, Suri D, Gupta A, Gupta N, Kabra M, Puri RD, RamaDevi R, Kapoor S, Danda S.

Clin Genet. 2014 Dec;86(6):530-8. doi: 10.1111/cge.12316. Epub 2013 Dec 20.

PMID:
24355074
14.

Radiation-induced acid ceramidase confers prostate cancer resistance and tumor relapse.

Cheng JC, Bai A, Beckham TH, Marrison ST, Yount CL, Young K, Lu P, Bartlett AM, Wu BX, Keane BJ, Armeson KE, Marshall DT, Keane TE, Smith MT, Jones EE, Drake RR Jr, Bielawska A, Norris JS, Liu X.

J Clin Invest. 2013 Oct;123(10):4344-58. doi: 10.1172/JCI64791. Epub 2013 Sep 16.

15.

Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.

Alves MQ, Le Trionnaire E, Ribeiro I, Carpentier S, Harzer K, Levade T, Ribeiro MG.

Mol Genet Metab. 2013 Jul;109(3):276-81. doi: 10.1016/j.ymgme.2013.04.019. Epub 2013 May 4.

PMID:
23707712
16.

Acid ceramidase (AC)--a key enzyme of sphingolipid metabolism--correlates with better prognosis in epithelial ovarian cancer.

Hanker LC, Karn T, Holtrich U, Gätje R, Rody A, Heinrich T, Ruckhäberle E, Engels K.

Int J Gynecol Pathol. 2013 May;32(3):249-57. doi: 10.1097/PGP.0b013e3182673982.

PMID:
23518908
17.

Acid ceramidase as a therapeutic target in metastatic prostate cancer.

Camacho L, Meca-Cortés O, Abad JL, García S, Rubio N, Díaz A, Celià-Terrassa T, Cingolani F, Bermudo R, Fernández PL, Blanco J, Delgado A, Casas J, Fabriàs G, Thomson TM.

J Lipid Res. 2013 May;54(5):1207-20. doi: 10.1194/jlr.M032375. Epub 2013 Feb 19.

18.

Acid ceramidase (ASAH1) is a global regulator of steroidogenic capacity and adrenocortical gene expression.

Lucki NC, Bandyopadhyay S, Wang E, Merrill AH, Sewer MB.

Mol Endocrinol. 2012 Feb;26(2):228-43. doi: 10.1210/me.2011-1150. Epub 2012 Jan 19.

19.

Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.

Chedrawi AK, Al-Hassnan ZN, Al-Muhaizea M, Colak D, Al-Younes B, Albakheet A, Tulba S, Kaya N.

Brain Dev. 2012 May;34(5):400-4. doi: 10.1016/j.braindev.2011.07.003. Epub 2011 Sep 3.

PMID:
21893389
20.

Acid ceramidase expression modulates the sensitivity of A375 melanoma cells to dacarbazine.

Bedia C, Casas J, Andrieu-Abadie N, Fabriàs G, Levade T.

J Biol Chem. 2011 Aug 12;286(32):28200-9. doi: 10.1074/jbc.M110.216382. Epub 2011 Jun 23.

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