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A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers
Wangler, Michael F, Hubert, Leroy, Donti, Taraka R, Ventura, Meredith J, Miller, Marcus J, Braverman, Nancy, Gawron, Kelly, Bose, Mousumi, Moser, Ann B, Jones, Richard O, Rizzo, William B, Sutton, V Reid, Sun, Qin, Kennedy, Adam D, Elsea, Sarah H
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
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Journal Article
Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry
Takashima, Shigeo, Toyoshi, Kayoko, Itoh, Takahiro, Kajiwara, Naomi, Honda, Ayako, Ohba, Akiko, Takemoto, Shoko, Yoshida, Satoshi, Shimozawa, Nobuyuki
Published in Molecular genetics and metabolism (01.03.2017)
Published in Molecular genetics and metabolism (01.03.2017)
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Journal Article
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities
Wang, Xiao-Ming, Yik, Wing Yan, Zhang, Peilin, Lu, Wange, Huang, Ning, Kim, Bo Ram, Shibata, Darryl, Zitting, Madison, Chow, Robert H., Moser, Ann B., Steinberg, Steven J., Hacia, Joseph G.
Published in Stem cell research & therapy (29.08.2015)
Published in Stem cell research & therapy (29.08.2015)
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Journal Article
Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review
Bose, Mousumi, Yergeau, Christine, D’Souza, Yasmin, Cuthbertson, David D., Lopez, Melisa J., Smolen, Alyssa K., Braverman, Nancy E.
Published in Cells (Basel, Switzerland) (10.06.2022)
Published in Cells (Basel, Switzerland) (10.06.2022)
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Journal Article
Elevated urinary excretion of nitric oxide metabolites in young infants with Zellweger syndrome
Surdacki, Andrzej, Tsikas, Dimitrios, Mayatepek, Ertan, Frölich, Jürgen C
Published in Clinica chimica acta (01.08.2003)
Published in Clinica chimica acta (01.08.2003)
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Journal Article
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
Moser, Ann B., Kreiter, Nancy, Bezman, Lena, Lu, Shou-En, Raymond, Gerald V., Naidu, Sakkubai, Moser, Hugo W.
Published in Annals of neurology (01.01.1999)
Published in Annals of neurology (01.01.1999)
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Journal Article
Zellweger syndrome
Published in Oxford Dictionary of Biochemistry and Molecular Biology
(01.01.2006)
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Reference
Metabolism of prostaglandin F2 alpha in Zellweger syndrome. Peroxisomal beta-oxidation is a major importance for in vivo degradation of prostaglandins in humans
Diczfalusy, U, Kase, B F, Alexson, S E, Björkhem, I
Published in The Journal of clinical investigation (01.09.1991)
Published in The Journal of clinical investigation (01.09.1991)
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Journal Article
Biosynthesis and Maturation of Peroxisomal β -oxidation Enzymes in Fibroblasts in Relation to the Zellweger Syndrome and Infantile Refsum Disease
Schram, André W., Strijland, Anneke, Hashimoto, Takashi, Ronald J. A. Wanders, Ruud B. H. Schutgens, Van Den Bosch, Henk, Tager, Joseph M.
Published in Proceedings of the National Academy of Sciences - PNAS (01.08.1986)
Published in Proceedings of the National Academy of Sciences - PNAS (01.08.1986)
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Journal Article
Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis
Hogenboom, Sietske, Romeijn, Gerrit Jan, Houten, Sander M., Baes, Myriam, Wanders, Ronald J.A., Waterham, Hans R.
Published in Journal of lipid research (01.01.2002)
Published in Journal of lipid research (01.01.2002)
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Journal Article
Peroxisomal localization in the developing mouse cerebellum: implications for neuronal abnormalities related to deficiencies in peroxisomes
Nagase, Tomoko, Shimozawa, Nobuyuki, Takemoto, Yasuhiko, Suzuki, Yasuyuki, Komori, Masayuki, Kondo, Naomi
Published in Biochimica et biophysica acta (17.03.2004)
Published in Biochimica et biophysica acta (17.03.2004)
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Journal Article
Identification of L-pipecolate oxidase in human liver and its deficiency in the Zellweger syndrome
Wanders, R.J.A., Romeyn, G.J., van Roermund, C.W.T., Schutgens, R.B.H., van den Bosch, H., Tager, J.M.
Published in Biochemical and biophysical research communications (15.07.1988)
Published in Biochemical and biophysical research communications (15.07.1988)
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Journal Article
Fetal cerebrohepatorenal (Zellweger) syndrome: Dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses
Powers, James M., Moser, Hugo W., Moser, Ann B., Upshur, Jane K., Bradford, Barbara F., Pai, Shashidhar G., Kohn, Peter H., Frias, Jaime, Tiffany, Carol
Published in Human pathology (01.06.1985)
Published in Human pathology (01.06.1985)
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Journal Article
Identification of pristanoyl-CoA oxidase activity in human liver and its deficiency in the Zellweger syndrome
Wanders, R.J.A., ten Brink, H.J., van Roermund, C.W.T., Schutgens, R.B.H., Tager, J.M., Jakobs, C.
Published in Biochemical and biophysical research communications (30.10.1990)
Published in Biochemical and biophysical research communications (30.10.1990)
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Journal Article
The β-oxidation of arachidonic acid and the synthesis of docosahexaenoic acid are selectively and consistently altered in skin fibroblasts from three Zellweger patients versus X-adrenoleukodystrophy, Alzheimer and control subjects
Petroni, A, Bertagnolio, B, La Spada, P, Blasevich, M, Papini, N, Govoni, S, Rimoldi, M, Galli, C
Published in Neuroscience letters (10.07.1998)
Published in Neuroscience letters (10.07.1998)
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Journal Article