Search Results - "Moser, Ann B"

Functions of plasmalogen lipids in health and disease by Braverman, Nancy E., Moser, Ann B.

“…Plasmalogens are a unique class of membrane glycerophospholipids containing a fatty alcohol with a vinyl-ether bond at the sn-1 position, and enriched in…”
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X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies by Turk, Bela R., Theda, Christiane, Fatemi, Ali, Moser, Ann B.

“…Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of…”
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Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines by 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

“…Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders caused by mutations in PEX genes responsible…”
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Hif-2α Promotes Degradation of Mammalian Peroxisomes by Selective Autophagy by 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.

“…Peroxisomes play a central role in lipid metabolism, and their function depends on molecular oxygen. Low oxygen tension or von Hippel-Lindau (Vhl) tumor…”
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A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3 by 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

“…ABCD3 is one of three ATP-binding cassette (ABC) transporters present in the peroxisomal membrane catalyzing ATP-dependent transport of substrates for…”
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Homeostasis of phospholipids — The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens by Dorninger, Fabian, Brodde, Alexander, Braverman, Nancy E., Moser, Ann B., Just, Wilhelm W., Forss-Petter, Sonja, Brügger, Britta, Berger, Johannes

“…Ethanolamine plasmalogens constitute a group of ether glycerophospholipids that, due to their unique biophysical and biochemical properties, are essential…”
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A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern by 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

“…Most conditions detected by expanded newborn screening result from deficiency of one of the enzymes that degrade acyl-coenzyme A (CoA) esters in mitochondria…”
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Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future by Moser, Ann B, Seeger, Elisa, Raymond, Gerald V

“…Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis…”
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Dyslipidemia and Atherosclerosis Induced by Chronic Intermittent Hypoxia Are Attenuated by Deficiency of Stearoyl Coenzyme A Desaturase by 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

“…Obstructive sleep apnea leads to chronic intermittent hypoxia (CIH) and is associated with atherosclerosis. We have previously shown that C57BL/6J mice exposed…”
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Role of ACSBG1 in Brain Lipid Metabolism and X-Linked Adrenoleukodystrophy Pathogenesis: Insights from a Knockout Mouse Model by Ye, Xiaoli, Li, Yuanyuan, González-Lamuño, Domingo, Pei, Zhengtong, Moser, Ann B, Smith, Kirby D, Watkins, Paul A

“…"Bubblegum" acyl-CoA synthetase (ACSBG1) is a pivotal player in lipid metabolism during mouse brain development, facilitating the activation of long-chain…”
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Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy? by Eichler, Florian S., Ren, Jia-Qian, Cossoy, Michael, Rietsch, Anna M., Nagpal, Sameer, Moser, Ann B., Frosch, Matthew P., Ransohoff, Richard M.

“…Objective Mutations in the X‐linked adrenoleukodystrophy (X‐ALD) protein cause accumulation of unbranched saturated very‐long‐chain fatty acids, particularly…”
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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 by 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

“…Striatal degeneration from glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type 1, GA1) is associated with cerebral formation and entrapment of…”
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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 by Fallatah, Wedad, Cui, Wei, Di Pietro, Erminia, Carter, Grace T., Pounder, Brittany, Dorninger, Fabian, Pifl, Christian, Moser, Ann B., Berger, Johannes, Braverman, Nancy E.

“…Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a peroxisome biogenesis disorder caused by defects in PEX7 leading to impairment in plasmalogen (Pls)…”
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Newborn Screening for X-Linked Adrenoleukodystrophy by Moser, Ann B, Jones, Richard O, Hubbard, Walter C, Tortorelli, Silvia, Orsini, Joseph J, Caggana, Michele, Vogel, Beth H, Raymond, Gerald V

“…Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely…”
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Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible by 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.

“…X-linked adrenoleukodystrophy (ALD) is characterized by adrenal insufficiency and neurologic involvement with onset at variable ages. Plasma very long chain…”
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MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity by Turk, Bela Rui, Poisson, Laila Marie, Nemeth, Christina Linnea, Goodman, Jordan, Moser, Ann B., Jones, Richard Owen, Fatemi, Ali, Singh, Jaspreet

“…Adrenomyeloneuropathy (AMN), the slow progressive phenotype of adrenoleukodystrophy (ALD), has no clinical plasma biomarker for disease progression. This…”
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Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease by Ribbens, Jameson J., Moser, Ann B., Hubbard, Walter C., Bongarzone, Ernesto R., Maegawa, Gustavo H.B.

“…Disease-cell models that recapitulate specific molecular phenotypes are essential for the investigation of molecular pathogenesis of neurodegenerative diseases…”
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Vitamin D status and latitude predict brain lesions in adrenoleukodystrophy by Keith P. vanHaren, Jacob Wilkes, Ann B. Moser, Gerald V. Raymond, Troy Richardson, Patrick Aubourg, Timothy W. Collins, Ellen M. Mowry, Joshua L. Bonkowsky

“…Abstract Objectives Approximately 40% of boys with X‐linked adrenoleukodystrophy (ALD) develop inflammatory demyelinating brain lesions (cerebral ALD, cALD)…”
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Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response by 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

“…Very long-chain fatty acids (VLCFA) are critical for human cytomegalovirus replication and accumulate upon infection. Here, we used Epstein-Barr virus (EBV)…”
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Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency by Ferdinandusse, Sacha, Denis, Simone, Hogenhout, Eveline M., Koster, Janet, van Roermund, Carlo W.T., IJlst, Lodewijk, Moser, Ann B., Wanders, Ronald J.A., Waterham, Hans R.

“…Peroxisomal acyl–coenzyme A (acyl‐CoA) oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of…”
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