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

por Moser, Ann B., Seeger, Elisa, Raymond, Gerald V.
Publicado 2022

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

por Turk, Bela R., Theda, Christiane, Fatemi, Ali, Moser, Ann B.
Publicado 2020

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

por Katabuchi, Asaka U., Godoy, Vivian, Shil, Priya, Moser, Ann, Maegawa, Gustavo H.B.
Publicado 2018

Mff functions with Pex11pβ and DLP1 in peroxisomal fission

por Itoyama, Akinori, Michiyuki, Satoru, Honsho, Masanori, Yamamoto, Taizo, Moser, Ann, Yoshida, Yumi, Fujiki, Yukio
Publicado 2013

Serum phytanic and pristanic acid levels and prostate cancer risk in Finnish smokers

por Wright, Margaret E, Albanes, Demetrius, Moser, Ann B, Weinstein, Stephanie J, Snyder, Kirk, Männistö, Satu, Gann, Peter H
Publicado 2014

Dataset for a case report of a homozygous PEX16 F332del mutation

por Bacino, Carlos, Chao, Yu-Hsin, Seto, Elaine, Lotze, Tim, Xia, Fan, Jones, Richard O., Moser, Ann, Wangler, Michael F.
Publicado 2015

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

por Dorninger, Fabian, Brodde, Alexander, Braverman, Nancy E., Moser, Ann B., Just, Wilhelm W., Forss-Petter, Sonja, Brügger, Britta, Berger, Johannes
Publicado 2015

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

por Bacino, Carlos A., Chao, Yu-Hsin, Seto, Elaine, Lotze, Tim, Xia, Fan, Jones, Richard O., Moser, Ann, Wangler, Michael F.
Publicado 2015

Greater sage‐grouse respond positively to intensive post‐fire restoration treatments

por Poessel, Sharon A., Barnard, David M., Applestein, Cara, Germino, Matthew J., Ellsworth, Ethan A., Major, Don, Moser, Ann, Katzner, Todd E.
Publicado 2022

MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity

por Turk, Bela Rui, Poisson, Laila Marie, Nemeth, Christina Linnea, Goodman, Jordan, Moser, Ann B., Jones, Richard Owen, Fatemi, Ali, Singh, Jaspreet
Publicado 2022

Diverse captive non-human primates with phytanic acid-deficient diets rich in plant products have substantial phytanic acid levels in their red blood cells

por Moser, Ann B, Hey, Jody, Dranchak, Patricia K, Karaman, Mazen W, Zhao, Junsong, Cox, Laura A, Ryder, Oliver A, Hacia, Joseph G
Publicado 2013

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

por Dorninger, Fabian, Moser, Ann B., Kou, Jianqiu, Wiesinger, Christoph, Forss-Petter, Sonja, Gleiss, Andreas, Hinterberger, Margareta, Jungwirth, Susanne, Fischer, Peter, Berger, Johannes
Publicado 2018

Newborn Screening for X-Linked Adrenoleukodystrophy

por Moser, Ann B., Jones, Richard O., Hubbard, Walter C., Tortorelli, Silvia, Orsini, Joseph J., Caggana, Michele, Vogel, Beth H., Raymond, Gerald V.
Publicado 2016

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

por Nemeth, Christina L., Gӧk, Özgül, Tomlinson, Sophia N., Sharma, Anjali, Moser, Ann B., Kannan, Sujatha, Kannan, Rangaramanujam M., Fatemi, Ali
Publicado 2022

A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity—Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata...

por Fallatah, Wedad, Cui, Wei, Di Pietro, Erminia, Carter, Grace T., Pounder, Brittany, Dorninger, Fabian, Pifl, Christian, Moser, Ann B., Berger, Johannes, Braverman, Nancy E.
Publicado 2022

Bezafibrate for X-Linked Adrenoleukodystrophy

por Engelen, Marc, Tran, Luc, Ofman, Rob, Brennecke, Josephine, Moser, Ann B., Dijkstra, Inge M. E., Wanders, Ronald J. A., Poll-The, Bwee Tien, Kemp, Stephan
Publicado 2012

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

por Law, Kelsey B., Bronte-Tinkew, Dana, Di Pietro, Erminia, Snowden, Ann, Jones, Richard O., Moser, Ann, Brumell, John H., Braverman, Nancy, Kim, Peter K.
Publicado 2017

Human and great ape red blood cells differ in plasmalogen levels and composition

por Moser, Ann B, Steinberg, Steven J, Watkins, Paul A, Moser, Hugo W, Ramaswamy, Krishna, Siegmund, Kimberly D, Lee, D Rick, Ely, John J, Ryder, Oliver A, Hacia, Joseph G
Publicado 2011

A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern

por 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.
Publicado 2013

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

por 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.
Publicado 2015