Ann Moser

Research output

Research output per year 1964 1984 1985 1987 1988 1993 1995 1996 1999 2000 2001 2003 2005 2010 2013 2014 2015 2016 2017 2022 2023

• 221 Article
• 11 Review article
• 5 Comment/debate
• 5 Letter
• 5 More
  • 2 Chapter
  • 1 Conference contribution
  • 1 Paper
  • 1 Short survey

Research output per year

Research output per year

Search results

• 2023

  Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature

  Mohan, S., Mayers, M., Weaver, M., Baudet, H., De Biase, I., Goldstein, J., Mao, R., McGlaughon, J., Moser, A., Pujol, A., Suchy, S., Yuzyuk, T. & Braverman, N. E., Jul 2023, In: Molecular genetics and metabolism. 139, 3, 107604.

  Research output: Contribution to journal › Article › peer-review

  • Peroxisomal Disorders 100%
  • Terminology 64%
  • Disorder 54%
  • Genome 43%
  • Strength 40%

• Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders

  De Biase, I., Yuzyuk, T., Cui, W., Zuromski, L. M., Moser, A. B. & Braverman, N. E., Mar 1 2023, In: Clinica Chimica Acta. 542, 117295.

  Research output: Contribution to journal › Article › peer-review

  • Peroxisome biogenesis disorders 100%
  • phosphatidal ethanolamines 96%
  • Plasmalogens 88%
  • Ethanolamine 67%
  • Tandem Mass Spectrometry 62%

• Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy

  Nemeth, C. L., Gӧk, Ö., Tomlinson, S. N., Sharma, A., Moser, A. B., Kannan, S., Kannan, R. M. & Fatemi, A., Jan 2023, In: Neurotherapeutics. 20, 1, p. 272-283 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • 4-phenylbutyric acid 100%
  • Adrenoleukodystrophy 93%
  • Dendrimers 87%
  • Brain 31%
  • Fatty Acids 15%
• 2022

  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, W., Cui, W., Di Pietro, E., Carter, G. T., Pounder, B., Dorninger, F., Pifl, C., Moser, A. B., Berger, J. & Braverman, N. E., Jul 11 2022, In: Frontiers in Cell and Developmental Biology. 10, 886316.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Type 1 Rhizomelic chondrodysplasia punctata 100%
  • Plasmalogens 74%
  • Phytanic Acid 34%
  • Genotype 34%
  • Biomarkers 31%

• International Recommendations for the Diagnosis and Management of Patients with Adrenoleukodystrophy: A Consensus-Based Approach

  Engelen, M., Van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., Van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., Tritos, N. A., Halper, A., Lachmann, R. H., Davison, J., Raymond, G. V., Lund, T. C., Orchard, P. J., Kuehl, J. S., Lindemans, C. A., Caruso, P., & 8 othersTurk, B. R., Moser, A. B., Vaz, F. M., Ferdinandusse, S., Kemp, S., Fatemi, A., Eichler, F. S. & Huffnagel, I. C., Nov 22 2022, In: Neurology. 99, 21, p. 940-951 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Neonatal Screening 20%
  • Addison Disease 11%
  • Adrenal Insufficiency 10%
  • Penetrance 9%

• MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity

  Turk, B. R., Poisson, L. M., Nemeth, C. L., Goodman, J., Moser, A. B., Jones, R. O., Fatemi, A. & Singh, J., Nov 2022, In: JIMD Reports. 63, 6, p. 593-603 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • MicroRNA 84%
  • Metabolomics 75%
  • Biological Marker 61%
  • MicroRNAs 57%

• Nervonic Acid Attenuates Accumulation of Very Long-Chain Fatty Acids and is a Potential Therapy for Adrenoleukodystrophy

  Terluk, M. R., Tieu, J., Sahasrabudhe, S. A., Moser, A., Watkins, P. A., Raymond, G. V. & Kartha, R. V., Apr 2022, In: Neurotherapeutics. 19, 3, p. 1007-1017 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • nervonic acid 100%
  • Adrenoleukodystrophy 76%
  • Fatty Acids 45%
  • hexacosanoic acid 11%
  • erucic acid 10%

• Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future

  Moser, A. B., Seeger, E. & Raymond, G. V., Mar 2022, In: International Journal of Neonatal Screening. 8, 1, 16.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Neonatal Screening 80%

• Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response

  Weinhofer, I., Buda, A., Kunze, M., Palfi, Z., Traunfellner, M., Hesse, S., Villoria-Gonzalez, A., Hofmann, J., Hametner, S., Regelsberger, G., Moser, A. B., Eichler, F., Kemp, S., Bauer, J., Kühl, J. S., Forss-Petter, S. & Berger, J., Dec 2022, In: Communications biology. 5, 1, 944.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • very long chain fatty acids 86%
  • Human gammaherpesvirus 4 83%
  • Adrenoleukodystrophy 75%
  • Herpesviridae 74%
  • Antiviral Agents 53%

• Structural Characterization and Quantitation of Ether-Linked Glycerophospholipids in Peroxisome Biogenesis Disorder Tissue by Ultraviolet Photodissociation Mass Spectrometry

  Blevins, M. S., Shields, S. W. J., Cui, W., Fallatah, W., Moser, A. B., Braverman, N. E. & Brodbelt, J. S., Sep 20 2022, In: Analytical Chemistry. 94, 37, p. 12621-12629 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Glycerophospholipid 91%
  • Photodissociation 73%
  • Disorder 55%
  • Mass Spectrometry 43%
  • Lipid 26%
• 2021

  Associations Between Systemic Omega-3 Fatty Acid Levels With Moderate-to-Severe Dry Eye Disease Signs and Symptoms at Baseline in the Dry Eye Assessment and Management Study

  Kuklinski, E. J., Hom, M. M., Ying, G. S., Lin, M. C., Chapkin, R. S., Jones, R., Moser, A., Kim, K. Y., Maguire, M. G. & Asbell, P. A., Jan 1 2021, In: Eye and Contact Lens. 47, 1, p. 2-7 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Dry Eye Syndromes 100%
  • Omega-3 Fatty Acids 91%
  • Signs and Symptoms 72%
  • Staining and Labeling 20%
  • Eye Diseases 10%

• Drug discovery for X-linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long-chain fatty acids

  Moser, A. B., Liu, Y., Shi, X., Schrifl, U., Hiebler, S., Fatemi, A., Braverman, N. E., Steinberg, S. J. & Watkins, P. A., Oct 2021, In: Journal of cellular biochemistry. 122, 10, p. 1337-1349 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Irbesartan 99%
  • Adrenoleukodystrophy 90%
  • Drug Discovery 64%
  • Choline 53%
  • Fatty Acids 53%

• Hugo Wolfgang Moser

  Naidu, S. & Moser, A. B., Jan 1 2021, Child Neurology: Its Origins, Founders, Growth and Evolution. Elsevier, p. 821-823 3 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

• MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines

  Mallack, E. J., Turk, B. R., Yan, H., Price, C., Demetres, M., Moser, A. B., Becker, C., Hollandsworth, K., Adang, L., Vanderver, A., Van Haren, K., Ruzhnikov, M., Kurtzberg, J., Maegawa, G., Orchard, P. J., Lund, T. C., Raymond, G. V., Regelmann, M., Orsini, J. J., Seeger, E., & 3 othersKemp, S., Eichler, F. & Fatemi, A., May 2021, In: Journal of Inherited Metabolic Disease. 44, 3, p. 728-739 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Neonatal Screening 80%
  • Meta-Analysis 51%
  • Guidelines 44%
  • Neuroimaging 20%
• 2020

  Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

  Members of Undiagnosed Diseases Network, May 20 2020, In: Neuron. 106, 4, p. 589-606.e6

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Gain of Function Mutation 100%
  • Neuroglia 66%
  • Antioxidants 18%
  • Proteins 9%
  11 Scopus citations

• The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy

  Coppa, A., Guha, S., Fourcade, S., Parameswaran, J., Ruiz, M., Moser, A. B., Schlüter, A., Murphy, M. P., Lizcano, J. M., Miranda-Vizuete, A., Dalfó, E. & Pujol, A., May 20 2020, In: Free Radical Biology and Medicine. 152, p. 797-809 13 p.

  Research output: Contribution to journal › Article › peer-review

  • ATP Binding Cassette Transporter, Subfamily D, Member 1 100%
  • Adrenoleukodystrophy 78%
  • Subcutaneous Tissue 59%
  • Fatty Acids 46%
  • Fatty Acid 43%
  3 Scopus citations

• X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

  Turk, B. R., Theda, C., Fatemi, A. & Moser, A. B., Feb 1 2020, In: International Journal of Developmental Neuroscience. 80, 1, p. 52-72 21 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Neonatal Screening 80%
  • Pathology 43%
  • Fatty Acids 29%
  • Hope 19%
  7 Scopus citations
• 2019

  Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

  Casasnovas, C., Ruiz, M., Schlüter, A., Naudí, A., Fourcade, S., Veciana, M., Castañer, S., Albertí, A., Bargalló, N., Johnson, M., Raymond, G. V., Fatemi, A., Moser, A. B., Villarroya, F., Portero-Otín, M., Artuch, R., Pamplona, R. & Pujol, A., Oct 1 2019, In: Neurotherapeutics. 16, 4, p. 1167-1182 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Antioxidants 50%
  • Biomarkers 44%
  • Safety 40%
  • Walk Test 27%
  12 Scopus citations
• 2018

  Alterations in the Plasma Levels of Specific Choline Phospholipids in Alzheimer's Disease Mimic Accelerated Aging

  Dorninger, F., Moser, A. B., Kou, J., Wiesinger, C., Forss-Petter, S., Gleiss, A., Hinterberger, M., Jungwirth, S., Fischer, P. & Berger, J., 2018, In: Journal of Alzheimer's Disease. 62, 2, p. 841-854 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Choline 100%
  • dementia 94%
  • Phospholipids 83%
  • Alzheimer Disease 72%
  • Biomarkers 26%
  21 Scopus citations

• A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

  Wangler, M. F., Hubert, L., Donti, T. R., Ventura, M. J., Miller, M. J., Braverman, N., Gawron, K., Bose, M., Moser, A. B., Jones, R. O., Rizzo, W. B., Sutton, V. R., Sun, Q., Kennedy, A. D. & Elsea, S. H., Oct 1 2018, In: Genetics in Medicine. 20, 10, p. 1274-1283 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Peroxisomes 80%
  • Metabolomics 69%
  • Biomarkers 41%
  • Sphingomyelins 25%
  • Metabolome 15%
  14 Scopus citations

• n−3 Fatty acid supplementation for the treatment of dry eye disease

  Asbell, P. A., Maguire, G., Pistilli, M., Ying, G. S., Szczotka-Flynn, L. B., Hardten, D. R., Lin, M. C., Shtein, R. M., Hom, M. M., Quintana, M., Zermeno, A., Pendleton, R., McCluskey, D., Amador, D., Corona, I., Wechter, V., Childs, C., Do, U., Lerma, M., Li, W., & 204 othersYoung, Z., Yuen, T., Dubiner, H., Ambrosia, H., Bowser, M., Chen, P., Fuller, C., New, K., Nguyen, T. V., Seville, E., Strait, D., Wang, C., Williams, S., Weber, R., Sutphin, J., Bishara, M., Bryan, A., Ertel, A., Green, K., Pantoja, G., Small, A., Williamson, C., Greiner, J., DiPronio, E., Lindsay, M., McPherson, A., Oliver, P., Wu, R., Dana, R., Abud, T., Adams, L., Arnofsky, M., Candlish, J., Chilakamarri, P., Ciolino, J., Crandall, N., Di Zazzo, A., Fernandes, M., Jafri, M., Johnson, B., Kheirkhah, A., Kiebdaj, S., Mullins, A., Nova, M., Satitpitakul, V., Shao, C., Suri, K., Tadla, V., Ujwala, S., Yin, J., Yu, M., Hood, C., Hussain, M., Manno, E., Rozek, L., Baker, K., Belsaas, A., Berg, E., Blakstad, A., DauSchmidt, K., Fallenstein, L., Fahmy, A. M., Fahmy, M. M., Georges, G., Harter, D. E., Hauswirth, S. G., Johnson, M., Meshalkin, E., Pelzer, R., Tisdale, J., Wick, J. C., Tauber, J., Hefter, M., Silverstein, S., Bentley, C., Dominguez, E., Kleinsasser, K., Barry, B., Kuklinski, E., Amir, A., Chen, N., Oydanich, M., Spahiu, V., Vo, A., Weinstein, M., Vaz, T., Hindman, H., Aleese, R., Czubinski, A., Gagarinas, G., McDowell, P., O'Gara, G., Steinmetz, K., Bunya, V., Bezzerides, M., Caggiano, D., Drossner, S., Dupont, J., Keiser, M., Massaro, M., Orlin, S., O'Sullivan, R., Christensen, M., Adkins, H., Brafford, R., Ervin, C., Grant, R., Newman, C., Shettle, L., Shettle, D., Cohen, S., Rodman, D., Caster, T., Gupta, P., Raghupathy, S., Sayegh, R., Shen, J., Drutz, N., Joyner, L., Mathis, M., Menghini, M., Robinson, C., Goldberg, D., Jenkins, L., Rodriguez, B., Jones, J. P., Thompson, N., Wolstan, B., Jones, M., Lemaster, A., Ransom-Chaney, J., Rudy, W., Hamrah, P., Commodore, M., Iyore, C., Lazarev, L., Mullen, L., Pondelis, N., Satsuma, C., Jain, S., Cowen, P., Hallak, J., Mun, C., Toh, R., Singh, I., Lightfield, P., Lowery, E., Ornelas, S., Sanka, R. K., Saunders, B., Mulqueeny, S. P., Pohlmeier, M., Aune, C., Gabriel, H., Walker, K. M., Newsome, J., Centers, R., Farkouh, M., Kim-Schulze, S., Chapkin, R., Greco, G., Simopoulos, A., Lashley, I., Dentone, P., Gadaria-Rathod, N., Massingale, M., Antonova, N., Brightwell-Arnold, M., Farrar, J., Harkins, S., Huang, J., McWilliams, K., Peskin, E., Ryan, S., Smolen, H., Whearry, C., Yu, Y., Wei, Y., Roy, N., Epstein, S., Rockwell, K., Moser, A., Jones, R. O., Daniel, E., Martin, E. R., Ostroff, C. P., Smith, E., Kadakia, P. A., Redford, M., Wisniewski, S., Brenna, T., Christen, W. G., Huang, J. F., McCarthy, C. S., Mayne, S. T., Palta, M., Schein, O. D., Chuang, J., Marchan, M., Hao, T., Heisler, C., Hu, C., Throop, C. & Moolchandani, V., 2018, In: New England Journal of Medicine. 378, 18, p. 1681-1690 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Dry Eye Syndromes 100%
  • Omega-3 Fatty Acids 91%
  • Placebos 57%
  • Confidence Intervals 41%
  • Tears 39%
  88 Scopus citations

• Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy

  Moser, A. B. & Fatemi, A., Oct 1 2018, In: JAMA Neurology. 75, 10, p. 1175-1176 2 p.

  Research output: Contribution to journal › Comment/debate › peer-review
  8 Scopus citations

• Serendipitous effects of β-cyclodextrin on murine model of Krabbe disease

  Katabuchi, A. U., Godoy, V., Shil, P., Moser, A. & Maegawa, G. H. B., Jun 2018, In: Molecular Genetics and Metabolism Reports. 15, p. 98-99 2 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access
  3 Scopus citations
• 2017

  Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

  Falkenberg, K. D., Braverman, N. E., Moser, A. B., Steinberg, S. J., Klouwer, F. C. C., Schlüter, A., Ruiz, M., Pujol, A., Engvall, M., Naess, K., van Spronsen, F. J., Körver-Keularts, I., Rubio-Gozalbo, M. E., Ferdinandusse, S., Wanders, R. J. A. & Waterham, H. R., Dec 7 2017, In: American journal of human genetics. 101, 6, p. 965-976 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Allelic Imbalance 95%
  • Alleles 46%
  • Peroxisomes 40%
  • 3' Untranslated Regions 32%
  • Polyadenylation 20%
  18 Scopus citations

• Antioxidant capacity and superoxide dismutase activity in adrenoleukodystrophy

  Turk, B. R., Theisen, B. E., Nemeth, C. L., Marx, J. S., Shi, X., Rosen, M., Jones, R. O., Moser, A. B., Watkins, P. A., Raymond, G. V., Tiffany, C. & Fatemi, A., May 2017, In: JAMA Neurology. 74, 5, p. 519-524 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Superoxide Dismutase 63%
  • Antioxidants 50%
  • Heterozygote 36%
  • 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid 32%
  10 Scopus citations

• Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

  Armangue, T., Orsini, J. J., Takanohashi, A., Gavazzi, F., Conant, A., Ulrick, N., Morrissey, M. A., Nahhas, N., Helman, G., Gordish-Dressman, H., Orcesi, S., Tonduti, D., Stutterd, C., van Haren, K., Toro, C., Iglesias, A. D., van der Knaap, M. S., Goldbach Mansky, R., Moser, A. B., Jones, R. O., & 1 othersVanderver, A., Nov 2017, In: Molecular genetics and metabolism. 122, 3, p. 134-139 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Aicardi Syndrome 100%
  • Lysophosphatidylcholine 78%
  • Lysophosphatidylcholines 75%
  • Neonatal Screening 67%
  • Interferons 52%
  13 Scopus citations

• Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse

  Wangler, M. F., Chao, Y. H., Bayat, V., Giagtzoglou, N., Shinde, A. B., Putluri, N., Coarfa, C., Donti, T., Graham, B. H., Faust, J. E., McNew, J. A., Moser, A., Sardiello, M., Baes, M. & Bellen, H. J., 2017, In: PLoS genetics. 13, 6, e1006825.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Carbohydrate Metabolism 100%
  • carbohydrate metabolism 92%
  • biogenesis 89%
  • carbohydrate 87%
  • Drosophila 81%
  15 Scopus citations

• The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders

  Law, K. B., Bronte-Tinkew, D., Di Pietro, E., Snowden, A., Jones, R. O., Moser, A., Brumell, J. H., Braverman, N. & Kim, P. K., May 4 2017, In: Autophagy. 13, 5, p. 868-884 17 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Peroxisome biogenesis disorders 100%
  • ATPases Associated with Diverse Cellular Activities 84%
  • Macroautophagy 79%
  • Peroxisomes 72%
  • Mutation 13%
  40 Scopus citations

• Therapeutische Strategien bei Adrenoleukodystrophie

  Translated title of the contribution: Therapeutic strategies in adrenoleukodystrophyTurk, B. R., Moser, A. B. & Fatemi, A., May 10 2017, (Accepted/In press) In: Wiener Medizinische Wochenschrift. p. 1-8 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Adrenoleukodystrophy 100%
  • Neonatal Screening 20%
  • Spinal Cord Diseases 19%
  • Mutation 19%
  • Hematopoietic Stem Cell Transplantation 18%
  15 Scopus citations

• X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans

  Curiel, J., Steinberg, S. J., Bright, S., Snowden, A., Moser, A. B., Eichler, F., Dubbs, H. A., Hacia, J. G., Ely, J. J., Bezner, J., Gean, A. & Vanderver, A., Nov 2017, In: Molecular genetics and metabolism. 122, 3, p. 130-133 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Adrenoleukodystrophy 100%
  • Mutation 58%
  • Plasma Level 57%
  • Disorder 39%
  • DNA Sequencing 28%
  2 Scopus citations
• 2016

  A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy

  Ahmed, M. A., Kartha, R. V., Brundage, R. C., Cloyd, J., Basu, C., Carlin, B. P., Jones, R. O., Moser, A. B., Fatemi, A. & Raymond, G. V., Jun 1 2016, In: British Journal of Clinical Pharmacology. 81, 6, p. 1058-1066 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Lorenzo's oil 100%
  • Adrenoleukodystrophy 75%
  • erucic acid 41%
  • Erucic Acids 15%
  • Fatty Acids 12%
  4 Scopus citations

• Dataset for a case report of a homozygous PEX16 F332del mutation

  Bacino, C., Chao, Y. H., Seto, E., Lotze, T., Xia, F., Jones, R. O., Moser, A. & Wangler, M. F., Mar 1 2016, In: Data in Brief. 6, p. 722-727 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Exome 100%
  • Datasets 98%
  • Mutation 70%
  • Peroxisomal Disorders 64%
  • TimeLine 54%
  1 Scopus citations

• Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

  Ventura, M. J., Wheaton, D., Xu, M., Birch, D., Bowne, S. J., Sullivan, L. S., Daiger, S. P., Whitney, A. E., Jones, R. O., Moser, A. B., Chen, R. & Wangler, M. F., Dec 1 2016, In: Molecular Genetics and Metabolism Reports. 9, p. 75-78 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Peroxisomal Disorders 100%
  • High-Throughput Nucleotide Sequencing 61%
  • Phenotype 38%
  • Usher Syndromes 32%
  • Sensorineural Hearing Loss 24%
  19 Scopus citations

• Familial risk for bipolar disorder is not associated with impaired peroxisomal function: Dissociation from docosahexaenoic acid deficits

  McNamara, R. K., Moser, A. B., Jones, R. I., Jandacek, R., Patino, L. R., Strawn, J. R., Strakowski, S. M. & DelBello, M. P., Dec 30 2016, In: Psychiatry research. 246, p. 803-807 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Dissociative Disorders 100%
  • Docosahexaenoic Acids 93%
  • Bipolar Disorder 76%
  • Peroxisomes 49%
  • Erythrocytes 46%
  3 Scopus citations

• Newborn screening for X-Linked adrenoleukodystrophy

  Moser, A. B., Jones, R. O., Hubbard, W. C., Tortorelli, S., Orsini, J. J., Caggana, M., Vogel, B. H. & Raymond, G. V., Dec 2016, In: International Journal of Neonatal Screening. 2, 4, 15.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Neonatal Screening 80%
  • Adrenal Insufficiency 9%
  • Cell Transplantation 8%
  • Netherlands 7%
  24 Scopus citations

• Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

  Braverman, N. E., Raymond, G. V., Rizzo, W. B., Moser, A. B., Wilkinson, M. E., Stone, E. M., Steinberg, S. J., Wangler, M. F., Rush, E. T., Hacia, J. G. & Bose, M., Mar 1 2016, In: Molecular genetics and metabolism. 117, 3, p. 313-321 9 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Peroxisome biogenesis disorders 100%
  • Disorder 48%
  • Guidelines 36%
  • Mutation 24%
  • Peroxisomes 14%
  101 Scopus citations
• 2015

  Adenoassociated virus serotype 9-mediated gene therapy for X-linked adrenoleukodystrophy

  Gong, Y., Mu, D., Prabhakar, S., Moser, A., Musolino, P., Ren, J. Q., Breakefield, X. O., Maguire, C. A. & Eichler, F. S., May 9 2015, In: Molecular Therapy. 23, 5, p. 824-834 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 90%
  • Genetic Therapy 57%
  • Serogroup 56%
  • Intracerebroventricular 49%
  • Intravenous Injections 47%
  29 Scopus citations

• A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

  Bacino, C. A., Chao, Y. H., Seto, E., Lotze, T., Xia, F., Jones, R. O., Moser, A. & Wangler, M. F., Dec 1 2015, In: Molecular Genetics and Metabolism Reports. 5, p. 15-18 4 p., 130.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Whole Exome Sequencing 100%
  • Peroxisomal Disorders 87%
  • Mutation 47%
  • Exome 33%
  • High-Throughput Nucleotide Sequencing 26%
  10 Scopus citations

• A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

  Ferdinandusse, S., Jimenez-Sanchez, G., Koster, J., Denis, S., Van Roermund, C. W., Silva-Zolezzi, I., Moser, A. B., Visser, W. F., Gulluoglu, M., Durmaz, O., Demirkol, M., Waterham, H. R., Gökcay, G., Wanders, R. J. A. & Valle, D., Jan 15 2015, In: Human molecular genetics. 24, 2, p. 361-370 10 p., ddu448.

  Research output: Contribution to journal › Article › peer-review

  • Bile Acids and Salts 100%
  • Peroxisomes 52%
  • pristanic acid 25%
  • Fatty Acids 23%
  • Phytol 23%
  68 Scopus citations

• Brain endothelial dysfunction in cerebral adrenoleukodystrophy

  Musolino, P. L., Gong, Y., Snyder, J. M. T., Jimenez, S., Lok, J., Lo, E. H., Moser, A. B., Grabowski, E. F., Frosch, M. P. & Eichler, F. S., Nov 2015, In: Brain. 138, 11, p. 3206-3220 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adrenoleukodystrophy 100%
  • Tight Junction Proteins 44%
  • Endothelial Cells 38%
  • Brain 33%
  • Blood-Brain Barrier 33%
  39 Scopus citations

• Dietary influences on tissue concentrations of phytanic acid and AMACR expression in the benign human prostate

  Kataria, Y., Wright, M., Deaton, R. J., Rueter, E. E., Rybicki, B. A., Moser, A. B., Ananthanrayanan, V. & Gann, P. H., Feb 1 2015, In: Prostate. 75, 2, p. 200-210 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • alpha-methylacyl-CoA racemase 100%
  • Phytanic Acid 96%
  • Prostate 48%
  • Red Meat 18%
  • Prostatic Neoplasms 16%
  10 Scopus citations

• Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities

  Wang, X. M., Yik, W. Y., Zhang, P., Lu, W., Huang, N., Kim, B. R., Shibata, D., Zitting, M., Chow, R. H., Moser, A. B., Steinberg, S. J. & Hacia, J. G., Aug 29 2015, In: Stem Cell Research and Therapy. 6, 1, 158.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Peroxisomes 78%
  • Induced Pluripotent Stem Cells 70%
  • Disorder 53%
  • Mutation 52%
  • Lipid 42%
  9 Scopus citations

• Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

  Turgeon, C. T., Moser, A. B., Mørkrid, L., Magera, M. J., Gavrilov, D. K., Oglesbee, D., Raymond, K., Rinaldo, P., Matern, D. & Tortorelli, S., Jan 1 2015, In: Molecular genetics and metabolism. 114, 1, p. 46-50 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Adrenoleukodystrophy 100%
  • Lysophosphatidylcholine 93%
  • Lysophosphatidylcholines 89%
  • Neonatal Screening 80%
  • Disorder 19%
  35 Scopus citations
• 2014

  Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease

  Ribbens, J. J., Moser, A. B., Hubbard, W. C., Bongarzone, E. R. & Maegawa, G. H. B., 2014, In: Molecular genetics and metabolism. 111, 2, p. 172-183 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Psychosine 100%
  • Globoid Cell Leukodystrophy 83%
  • Glycosphingolipid 57%
  • Neurodegenerative Diseases 47%
  • Glycosphingolipids 35%
  20 Scopus citations

• Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study

  Wang, R. Y., Monuki, E. S., Powers, J., Schwartz, P. H., Watkins, P. A., Shi, Y., Moser, A., Shrier, D. A., Waterham, H. R., Nugent, D. J. & Abdenur, J. E., Sep 1 2014, In: Journal of Inherited Metabolic Disease. 37, 5, p. 791-799 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Acyl-CoA Oxidase 100%
  • Hematopoietic Stem Cell Transplantation 68%
  • Siblings 58%
  • Neuropathology 43%
  • White Matter 35%
  13 Scopus citations

• Fatty acids and TxA₂ generation, in the absence of platelet-COX-1 activity

  Defilippis, A. P., Rai, S. N., Cambon, A., Miles, R. J., Jaffe, A. S., Moser, A. B., Jones, R. O., Bolli, R. & Schulman, S. P., Apr 2014, In: Nutrition, Metabolism and Cardiovascular Diseases. 24, 4, p. 428-433 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cyclooxygenase 1 100%
  • Thromboxane A2 95%
  • Fatty Acids 65%
  • Aspirin 60%
  • Blood Platelets 59%
  6 Scopus citations

• Hif-2α Promotes degradation of mammalian peroxisomes by selective autophagy

  Walter, K. M., Schönenberger, M. J., Trötzmüller, M., Horn, M., Elsässer, H. P., Moser, A. B., Lucas, M. S., Schwarz, T., Gerber, P. A., Faust, P. L., Moch, H., Köfeler, H. C., Krek, W. & Kovacs, W. J., Nov 4 2014, In: Cell Metabolism. 20, 5, p. 882-897 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Peroxisomes 100%
  • Autophagy 75%
  • Macroautophagy 31%
  • Oxygen 24%
  • alpha-factor (Saccharomyces cerevisiae) 19%
  75 Scopus citations

• Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens

  Dorninger, F., Brodde, A., Braverman, N. E., Moser, A. B., Just, W. W., Forss-Petter, S., Brügger, B. & Berger, J., Nov 27 2014, In: Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids. 1851, 2, p. 117-128 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • phosphatidal ethanolamines 100%
  • Plasmalogens 92%
  • phosphatidylethanolamine 71%
  • Phospholipids 53%
  • Rhizomelic Chondrodysplasia Punctata 45%
  47 Scopus citations

• Human disorders of peroxisome biogenesis: Zellweger spectrum and rhizomelic chondrodysplasia punctata

  Braverman, N., Argyriou, C. & Moser, A., Feb 1 2014, Molecular Machines Involved in Peroxisome Biogenesis and Maintenance. Springer-Verlag Wien, p. 63-90 28 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Rhizomelic Chondrodysplasia Punctata 100%
  • Peroxisome biogenesis disorders 97%
  • Peroxisomes 70%
  • Disorder 47%
  • Peroxins 32%
  3 Scopus citations

• Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

  Hoover-Fong, J., Sobreira, N., Jurgens, J., Modaff, P., Blout, C., Moser, A., Kim, O. H., Cho, T. J., Cho, S. Y., Kim, S. J., Jin, D. K., Kitoh, H., Park, W. Y., Ling, H., Hetrick, K. N., Doheny, K. F., Valle, D. & Pauli, R. M., Jan 2 2014, In: American journal of human genetics. 94, 1, p. 105-112 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  33 Scopus citations