Identification of Novel Mutations and Sequence Variation in the Zellweger Syndrome Spectrum of Peroxisome Biogenesis Disorders

Por Yik, Wing Yan, Steinberg, Steven J., Moser, Ann B., Moser, Hugo W., Hacia, Joseph G.
Publicado em 2009

Bap31 enhances the ER export and quality control of human class I MHC molecules

Por Ladasky, John J., Boyle, Sarah, Seth, Malini, Li, Hewang, Pentcheva, Tsvetelina, Abe, Fumiyoshi, Steinberg, Steven J., Edidin, Michael
Publicado em 2006

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations

Por Dranchak, Patricia K., Di Pietro, Erminia, Snowden, Ann, Oesch, Nathan, Braverman, Nancy E., Steinberg, Steven J., Hacia, Joseph G.
Publicado em 2011

The gene expression profiles of induced pluripotent stem cells from individuals with childhood cerebral adrenoleukodystrophy are consistent with proposed mechanisms of pathogenesis

Por Wang, Xiao-Ming, Yik, Wing Yan, Zhang, Peilin, Lu, Wange, Dranchak, Patricia K, Shibata, Darryl, Steinberg, Steven J, Hacia, Joseph G
Publicado em 2012

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 em 2011

Association of Common Variations on Chromosome 4q25 and Left Atrial Volume in Patients with Atrial Fibrillation

Por Mints, Yuliya, Yarmohammadi, Hirad, Khurram, Irfan M, Hoyt, Hana, Hansford, Rozann, Zimmerman, Stefan L, Steinberg, Steven J, Judge, Daniel P, Tomaselli, Gordon F, Calkins, Hugh, Zipunnikov, Vadim, Nazarian, Saman
Publicado no Clin Med Insights Cardiol (2015)

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 no Stem Cell Res Ther (2015)

Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions

Por Watkins, Paul A, Moser, Ann B, Toomer, Cicely B, Steinberg, Steven J, Moser, Hugo W, Karaman, Mazen W, Ramaswamy, Krishna, Siegmund, Kimberly D, Lee, D Rick, Ely, John J, Ryder, Oliver A, Hacia, Joseph G
Publicado em 2010

The Pex1-G844D Mouse: A Model for Mild Human Zellweger Spectrum Disorder

Por Hiebler, Shandi, Masuda, Tomohiro, Hacia, Joseph G., Moser, Ann B., Faust, Phyllis L., Liu, Anita, Chowdhury, Nivedita, Huang, Ning, Lauer, Amanda, Bennett, Jean, Watkins, Paul A., Zack, Donald J., Braverman, Nancy E., Raymond, Gerald V., Steinberg, Steven J.
Publicado no Mol Genet Metab (2014)

Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders

Por Corzo, Deyanira, Gibson, William, Johnson, Kisha, Mitchell, Grant, LePage, Guy, Cox, Gerald F., Casey, Robin, Zeiss, Carolyn, Tyson, Heidi, Cutting, Garry R., Raymond, Gerald V., Smith, Kirby D., Watkins, Paul A., Moser, Ann B., Moser, Hugo W., Steinberg, Steven J.
Publicado em 2002