Moser, Ann B.

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. (2015) · Brain

Barrier Structure and Function StudiesMetabolism and Genetic Disorders

Cited by 92

Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy

Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M., & Aubourg, P. (2005) · Human Molecular Genetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 86

Contiguous deletion of the X‐linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders

Corzo, D., Gibson, W., Johnson, K., Mitchell, G., LePage, G., Cox, G. F., Casey, R., Zeiss, C., Tyson, H., Cutting, G. R., et al. (2002) · The American Journal of Human Genetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 85

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., et al. (2021) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 79

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

Gong, Y., Mu, D., Prabhakar, S., Moser, A., Musolino, P., Ren, J., Breakefield, X. O., Maguire, C. A., & Eichler, F. S. (2015) · Molecular Therapy

Virus-based gene therapy researchLysosomal Storage Disorders Research

Cited by 74

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton

Braverman, N., Zhang, R., Chen, L., Nimmo, G., Scheper, S., Tran, T., Chaudhury, R., Moser, A., & Steinberg, S. (2010) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 66

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. (2015) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 60

The peroxisome deficient PEX2 Zellweger mouse: pathologic and biochemical correlates of lipid dysfunction

Faust, P. L., Su, H.-M., Moser, A., & Moser, H. W. (2001) · Journal of Molecular Neuroscience

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 60

The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder

Hiebler, S., Masuda, T., Hacia, J. G., Moser, A. B., Faust, P. L., Liu, A., Chowdhury, N., Huang, N., Lauer, A., Bennett, J., et al. (2014) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 60

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

Wang, Y., Busin, R., Reeves, C., Bezman, L., Raymond, G., Toomer, C. J., Watkins, P. A., Snowden, A., Moser, A., Naidu, S., et al. (2011) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 58

Peroxisomal very long-chain fatty acid β-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders

Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Heikoop, J., Schutgens, R. B. H., Schram, A. W., Tager, J. M., van den Bosch, H., Poll-Thé, B. T., Saudubray, J. M., et al. (1987) · Clinica Chimica Acta

Metabolism and Genetic DisordersGenetic and rare skin diseases.

Cited by 58

Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible

Theda, C., Gibbons, K., DeFor, T. E., Donohue, P. K., Golden, W. C., Kline, A. D., Gulamali-Majid, F., Panny, S. R., Hubbard, W. C., Jones, R. O., et al. (2014) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 56

Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells

Powers, J. M., Kenjarski, T. P., Moser, A. B., & Moser, H. W. (1999) · Acta Neuropathologica

Metabolism and Genetic DisordersGenetic Neurodegenerative Diseases

Cited by 49

Fetal adrenoleukodystrophy: the significance of pathologic lesions in adrenal gland and testis

Powers, J. M., Moser, H. W., Moser, A. B., & Schaumburg, H. H. (1982) · Human Pathology

Metabolism and Genetic DisordersAdrenal Hormones and Disorders

Cited by 49

Increased very long chain fatty acids in patients on a ketogenic diet: A cause of diagnostic confusion

Theda, C., Woody, R. C., Naidu, S., Moser, A. B., & Moser, H. W. (1993) · The Journal of Pediatrics

Metabolism and Genetic DisordersDiet and metabolism studies

Cited by 44

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy

Sandlers, Y., Moser, A. B., Hubbard, W. C., Kratz, L. E., Jones, R. O., & Raymond, G. V. (2012) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 38

Cerebral X‐linked adrenoleukodystrophy in a girl with Xq27‐Ter deletion

Hershkovitz, E., Narkis, G., Shorer, Z., Moser, A. B., Watkins, P. A., Moser, H. W., & Manor, E. (2002) · Annals of Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 30

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., et al. (2020) · Free Radical Biology and Medicine

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 23

Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy

Moser, A. B., & Fatemi, A. (2018) · JAMA Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 22

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., et al. (2022) · Communications Biology

Cytomegalovirus and herpesvirus researchHerpesvirus Infections and Treatments

Cited by 20

Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans

Gong, Y., Laheji, F., Berenson, A., Li, Y., Moser, A., Qian, A., Frosch, M., Sadjadi, R., Hahn, R., Maguire, C. A., et al. (2024) · Annals of Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 11

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., et al. (2017) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 8

Genetic analysis of the X-linked Adrenoleukodystrophy ABCD1 gene in Drosophila uncovers a role in Peroxisomal dynamics

Manor, J., Jangam, S. V., Chung, H.-L., Bhagwat, P., Andrews, J., Chester, H., Kondo, S., Srivastav, S., Botas, J., Moser, A. B., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory)

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 2

Expression of ALDP Is Altered in X‐linked Adrenoleukodystrophy

WATKINS, P. A., GOULD, S. J., SMITH, M. A., BRAITERMAN, L. T., WEI, H., KOK, F., MOSER, A. B., MOSER, H. W., & SMITH, K. D. (1996) · Annals of the New York Academy of Sciences

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 1