Literature DB >> 4678225

Ceramidase deficiency in Farber's disease (lipogranulomatosis).

M Sugita, J T Dulaney, H W Moser.   

Abstract

Ceramidase activity could not be demonstrated in the kidney and cerebellum from a deceased patient with Farber's disease, whereas the activities of six control acid hydrolase enzymes appeared normal. This enzyme defect presumably accounts for the accumulation that has been described in two patients and may represent the biochemical basis of this disorder.

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Year:  1972        PMID： 4678225     DOI： 10.1126/science.178.4065.1100

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  51 in total

Review 1.  Sphingolipid metabolism in the regulation of bioactive molecules.

Authors:  C Luberto; Y A Hannun
Journal:  Lipids       Date:  1999       Impact factor: 1.880

Review 2.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

Review 3.  Farber disease: an ultrastructural study. Report of a case and review of the literature.

Authors:  L Zappatini-Tommasi; C Dumontel; P Guibaud; C Girod
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1992

4.  A specific ultrastructural marker for disseminated lipogranulomatosis (Faber).

Authors:  C Schmoeckel; M Hohlfed
Journal:  Arch Dermatol Res       Date:  1979-10       Impact factor: 3.017

Review 5.  Ceramidases, roles in sphingolipid metabolism and in health and disease.

Authors:  Nicolas Coant; Wataru Sakamoto; Cungui Mao; Yusuf A Hannun
Journal:  Adv Biol Regul       Date:  2016-10-11

6.  Fatty acid composition of free ceramides of kidney and cerebellum from a patient with Farber's disease.

Authors:  M Sugita; P Connolly; J T Dulaney; H W Moser
Journal:  Lipids       Date:  1973-07       Impact factor: 1.880

Review 7.  Multi-system disorders of glycosphingolipid and ganglioside metabolism.

Authors:  You-Hai Xu; Sonya Barnes; Ying Sun; Gregory A Grabowski
Journal:  J Lipid Res       Date:  2010-03-08       Impact factor: 5.922

8.  Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency.

Authors:  Fabian P S Yu; Diana Islam; Jakub Sikora; Shaalee Dworski; Jiří Gurka; Lucía López-Vásquez; Mingyao Liu; Wolfgang M Kuebler; Thierry Levade; Haibo Zhang; Jeffrey A Medin
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2017-11-22       Impact factor: 5.464

9.  Identification of ASAH1 as a susceptibility gene for familial keloids.

Authors:  Regie Lyn P Santos-Cortez; Ying Hu; Fanyue Sun; Fairouz Benahmed-Miniuk; Jian Tao; Jitendra K Kanaujiya; Samuel Ademola; Solomon Fadiora; Victoria Odesina; Deborah A Nickerson; Michael J Bamshad; Peter B Olaitan; Odunayo M Oluwatosin; Suzanne M Leal; Ernst J Reichenberger
Journal:  Eur J Hum Genet       Date:  2017-07-26       Impact factor: 4.246

10.  Dose dependent actions of LCL521 on acid ceramidase and key sphingolipid metabolites.

Authors:  Aiping Bai; Alicja Bielawska; Mehrdad Rahmaniyan; Jacqueline M Kraveka; Jacek Bielawski; Yusuf A Hannun
Journal:  Bioorg Med Chem       Date:  2018-11-10       Impact factor: 3.641
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