Isoforms of Na,K-ATPase α and β Subunits in the Rat Cerebellum and in Granule Cell Cultures

par Peng, Liang, Martin-Vasallo, Pablo, Sweadner, Kathleen J.
Publié dans J Neurosci (1997)

Global Loss of Na,K-ATPase and Its Nitric Oxide-Mediated Regulation in a Transgenic Mouse Model of Amyotrophic Lateral Sclerosis

par Ellis, Dorette Z., Rabe, Jason, Sweadner, Kathleen J.
Publié dans J Neurosci (2003)

Cellular and Subcellular Specification of Na,K-ATPase α and β Isoforms in the Postnatal Development of Mouse Retina

par Wetzel, Randall K., Arystarkhova, Elena, Sweadner, Kathleen J.
Publié dans J Neurosci (1999)

Impaired AQP2 trafficking in Fxyd1 knockout mice: A role for FXYD1 in regulated vesicular transport

par Arystarkhova, Elena, Bouley, Richard, Liu, Yi Bessie, Sweadner, Kathleen J.
Publié dans PLoS One (2017)

Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations

par Arystarkhova, Elena, Ozelius, Laurie J., Brashear, Allison, Sweadner, Kathleen J.
Publié dans J Biol Chem (2020)

Post-transcriptional Control of Na,K-ATPase Activity and Cell Growth by a Splice Variant of FXYD2 Protein with Modified mRNA

par Sweadner, Kathleen J., Pascoa, Jennifer L., Salazar, Cynthia A., Arystarkhova, Elena
Publié 2011

Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3

par Sweadner, Kathleen J., Arystarkhova, Elena, Penniston, John T., Swoboda, Kathryn J., Brashear, Allison, Ozelius, Laurie J.
Publié dans Neurol Genet (2019)

Phospholemman, a Single-Span Membrane Protein, Is an Accessory Protein of Na,K-ATPase in Cerebellum and Choroid Plexus

par Feschenko, Marina S., Donnet, Claudia, Wetzel, Randall K., Asinovski, Natalya K., Jones, Larry R., Sweadner, Kathleen J.
Publié dans J Neurosci (2003)

Paradoxical activation of the sodium chloride cotransporter (NCC) without hypertension in kidney deficient in a regulatory subunit of Na,K‐ATPase, FXYD2

par Arystarkhova, Elena, Ralph, Donna L., Liu, Yi Bessie, Bouley, Richard, McDonough, Alicia A., Sweadner, Kathleen J.
Publié dans Physiol Rep (2014)

Hyperplasia of Pancreatic Beta Cells and Improved Glucose Tolerance in Mice Deficient in the FXYD2 Subunit of Na,K-ATPase

par Arystarkhova, Elena, Liu, Yi B., Salazar, Cynthia, Stanojevic, Violeta, Clifford, Rebecca J., Kaplan, Jack H., Kidder, Gerald M., Sweadner, Kathleen J.
Publié 2013

ATP1A3 Mutation in Adult Rapid-Onset Ataxia

par Sweadner, Kathleen J., Toro, Camilo, Whitlow, Christopher T., Snively, Beverly M., Cook, Jared F., Ozelius, Laurie J., Markello, Thomas C., Brashear, Allison
Publié dans PLoS One (2016)

A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1

par Liu, Yi Bessie, Tewari, Ambika, Salameh, Johnny, Arystarkhova, Elena, Hampton, Thomas G, Brashear, Allison, Ozelius, Laurie J, Khodakhah, Kamran, Sweadner, Kathleen J
Publié dans eLife (2015)

FXYD Proteins Reverse Inhibition of the Na(+)-K(+) Pump Mediated by Glutathionylation of Its β(1) Subunit

par Bibert, Stéphanie, Liu, Chia-Chi, Figtree, Gemma A., Garcia, Alvaro, Hamilton, Elisha J., Marassi, Francesca M., Sweadner, Kathleen J., Cornelius, Flemming, Geering, Käthi, Rasmussen, Helge H.
Publié 2011

New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism

par Barbano, Richard L., Hill, Deborah F., Snively, Beverly M., Light, Laney S., Boggs, Niki, McCall, W. Vaughn, Stacy, Mark, Ozelius, Laurie, Sweadner, Kathleen J., Brashear, Allison
Publié 2012

Revising Rapid-Onset Dystonia-Parkinsonism: broadening indications for ATP1A3 testing

par Haq, Ihtsham U., Snively, Beverly M., Sweadner, Kathleen J., Suerken, Cynthia K., Cook, Jared F., Ozelius, Laurie J., Miller, Charlotte, McCall, William V., Whitlow, Christopher, Brashear, Allison
Publié dans Mov Disord (2019)

Cognitive Impairment in Rapid-Onset Dystonia-Parkinsonism

par Cook, Jared F., Hill, Deborah F., Snively, Beverly M., Boggs, Niki, Suerken, Cynthia K., Haq, Ihtsham, Stacy, Mark, McCall, W. Vaughn, Ozelius, Laurie J., Sweadner, Kathleen J, Brashear, Allison
Publié 2014

Psychiatric disorders in rapid-onset dystonia-parkinsonism

par Brashear, Allison, Cook, Jared F., Hill, Deborah F., Amponsah, Alethea, Snively, Beverly M., Light, Laney, Boggs, Niki, Suerken, Cynthia K., Stacy, Mark, Ozelius, Laurie, Sweadner, Kathleen J., McCall, W. Vaughn
Publié 2012

Factors in the disease severity of ATP1A3 mutations: impairment, misfolding, and allele competition

par Arystarkhova, Elena, Haq, Ihtsham U., Luebbert, Timothy, Mochel, Fanny, Saunders-Pullman, Rachel, Bressman, Susan B., Feschenko, Polina, Salazar, Cynthia, Cook, Jared F., Demarest, Scott, Brashear, Allison, Ozelius, Laurie J., Sweadner, Kathleen J.
Publié dans Neurobiol Dis (2019)

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations

par Hoshino, Kyoko, Sweadner, Kathleen J., Kawarai, Toshitaka, Saute, Jonas Alex, Freitas, Joel, Damásio, Joana, Donis, Karina C., Kimura, Kazue, Fukuda, Hideki, Hayashi, Masaharu, Higuchi, Tetsuya, Ikeda, Yoshio, Ozelius, Laurie J., Kaji, Ryuji
Publié dans Neurol Genet (2021)

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings

par Oblak, Adrian L., Hagen, Matthew C., Sweadner, Kathleen J., Haq, Ihtsham, Whitlow, Christopher T., Maldjian, Joseph A., Epperson, Francine, Cook, Jared F., Stacy, Mark, Murrell, Jill R., Ozelius, Laurie J., Brashear, Allison, Ghetti, Bernardino
Publié 2014