Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
Braverman, Nancy E., Raymond, Gerald V., Rizzo, William B., Moser, Ann B., Wilkinson, Mark E., Stone, Edwin M., Steinberg, Steven J., Wangler, Michael F., Rush, Eric T., Hacia, Joseph G., Bose, Mousumi
Published in Molecular genetics and metabolism (01.03.2016)
Published in Molecular genetics and metabolism (01.03.2016)
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Journal Article
Hif-2α Promotes Degradation of Mammalian Peroxisomes by Selective Autophagy
Walter, Katharina M., Schönenberger, Miriam J., Trötzmüller, Martin, Horn, Michael, Elsässer, Hans-Peter, Moser, Ann B., Lucas, Miriam S., Schwarz, Tobias, Gerber, Philipp A., Faust, Phyllis L., Moch, Holger, Köfeler, Harald C., Krek, Wilhelm, Kovacs, Werner J.
Published in Cell metabolism (04.11.2014)
Published in Cell metabolism (04.11.2014)
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A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3
Ferdinandusse, Sacha, Jimenez-Sanchez, Gerardo, Koster, Janet, Denis, Simone, Van Roermund, Carlo W, Silva-Zolezzi, Irma, Moser, Ann B, Visser, Wouter F, Gulluoglu, Mine, Durmaz, Ozlem, Demirkol, Mubeccel, Waterham, Hans R, Gökcay, Gülden, Wanders, Ronald J A, Valle, David
Published in Human molecular genetics (15.01.2015)
Published in Human molecular genetics (15.01.2015)
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Journal Article
Homeostasis of phospholipids — The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens
Dorninger, Fabian, Brodde, Alexander, Braverman, Nancy E., Moser, Ann B., Just, Wilhelm W., Forss-Petter, Sonja, Brügger, Britta, Berger, Johannes
Published in Biochimica et biophysica acta (01.02.2015)
Published in Biochimica et biophysica acta (01.02.2015)
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Journal Article
A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern
Gauthier, Nicolas, Wu, Jiang Wei, Wang, Shu Pei, Allard, Pierre, Mamer, Orval A, Sweetman, Lawrence, Moser, Ann B, Kratz, Lisa, Alvarez, Fernando, Robitaille, Yves, Lépine, François, Mitchell, Grant A
Published in PloS one (05.07.2013)
Published in PloS one (05.07.2013)
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Journal Article
Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future
Moser, Ann B, Seeger, Elisa, Raymond, Gerald V
Published in International journal of neonatal screening (18.02.2022)
Published in International journal of neonatal screening (18.02.2022)
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Dyslipidemia and Atherosclerosis Induced by Chronic Intermittent Hypoxia Are Attenuated by Deficiency of Stearoyl Coenzyme A Desaturase
Savransky, Vladimir, Jun, Jonathan, Li, Jianguo, Nanayakkara, Ashika, Fonti, Shannon, Moser, Ann B, Steele, Kimberly E, Schweitzer, Michael A, Patil, Susheel P, Bhanot, Sanjay, Schwartz, Alan R, Polotsky, Vsevolod Y
Published in Circulation research (07.11.2008)
Published in Circulation research (07.11.2008)
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Journal Article
Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?
Eichler, Florian S., Ren, Jia-Qian, Cossoy, Michael, Rietsch, Anna M., Nagpal, Sameer, Moser, Ann B., Frosch, Matthew P., Ransohoff, Richard M.
Published in Annals of neurology (01.06.2008)
Published in Annals of neurology (01.06.2008)
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Journal Article
Role of ACSBG1 in Brain Lipid Metabolism and X-Linked Adrenoleukodystrophy Pathogenesis: Insights from a Knockout Mouse Model
Ye, Xiaoli, Li, Yuanyuan, González-Lamuño, Domingo, Pei, Zhengtong, Moser, Ann B, Smith, Kirby D, Watkins, Paul A
Published in Cells (Basel, Switzerland) (12.10.2024)
Published in Cells (Basel, Switzerland) (12.10.2024)
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Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx
Strauss, Kevin A., Brumbaugh, Joan, Duffy, Alana, Wardley, Bridget, Robinson, Donna, Hendrickson, Christine, Tortorelli, Silvia, Moser, Ann B., Puffenberger, Erik G., Rider, Nicholas L., Morton, D. Holmes
Published in Molecular genetics and metabolism (01.09.2011)
Published in Molecular genetics and metabolism (01.09.2011)
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A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity—Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1
Fallatah, Wedad, Cui, Wei, Di Pietro, Erminia, Carter, Grace T., Pounder, Brittany, Dorninger, Fabian, Pifl, Christian, Moser, Ann B., Berger, Johannes, Braverman, Nancy E.
Published in Frontiers in cell and developmental biology (11.07.2022)
Published in Frontiers in cell and developmental biology (11.07.2022)
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Journal Article
Newborn Screening for X-Linked Adrenoleukodystrophy
Moser, Ann B, Jones, Richard O, Hubbard, Walter C, Tortorelli, Silvia, Orsini, Joseph J, Caggana, Michele, Vogel, Beth H, Raymond, Gerald V
Published in International journal of neonatal screening (01.12.2016)
Published in International journal of neonatal screening (01.12.2016)
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Journal Article
Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible
Theda, Christiane, Gibbons, Katy, DeFor, Todd E., Donohue, Pamela K., Golden, W. Christopher, Kline, Antonie D., Gulamali-Majid, Fizza, Panny, Susan R., Hubbard, Walter C., Jones, Richard O., Liu, Anita K., Moser, Ann B., Raymond, Gerald V.
Published in Molecular genetics and metabolism (01.01.2014)
Published in Molecular genetics and metabolism (01.01.2014)
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Journal Article
MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity
Turk, Bela Rui, Poisson, Laila Marie, Nemeth, Christina Linnea, Goodman, Jordan, Moser, Ann B., Jones, Richard Owen, Fatemi, Ali, Singh, Jaspreet
Published in JIMD reports (01.11.2022)
Published in JIMD reports (01.11.2022)
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Journal Article
Vitamin D status and latitude predict brain lesions in adrenoleukodystrophy
Haren, Keith P., Wilkes, Jacob, Moser, Ann B., Raymond, Gerald V., Richardson, Troy, Aubourg, Patrick, Collins, Timothy W., Mowry, Ellen M., Bonkowsky, Joshua L.
Published in Annals of Child Neurology Society (01.06.2023)
Published in Annals of Child Neurology Society (01.06.2023)
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Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response
Weinhofer, Isabelle, Buda, Agnieszka, Kunze, Markus, Palfi, Zsofia, Traunfellner, Matthäus, Hesse, Sarah, Villoria-Gonzalez, Andrea, Hofmann, Jörg, Hametner, Simon, Regelsberger, Günther, Moser, Ann B., Eichler, Florian, Kemp, Stephan, Bauer, Jan, Kühl, Jörn-Sven, Forss-Petter, Sonja, Berger, Johannes
Published in Communications biology (09.09.2022)
Published in Communications biology (09.09.2022)
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