Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism
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William B Dobyns | Allison Brashear | S. Bressman | W. Dobyns | J. T. Penniston | M. Tijssen | M. Borg | A. Brashear | G. Linazasoro | L. Ozelius | P. C. Aguiar | K. Sweadner | J. Zaremba | Liu Liu | M. Caton | Susan B Bressman | Laurie J Ozelius | John T Penniston | Patricia de Carvalho Aguiar | Kathleen J Sweadner | Jacek Zaremba | Liu Liu | Marsha Caton | Gurutz Linazasoro | Michel Borg | Marina A.J Tijssen | P. Aguiar
[1] B. Ganetzky,et al. Neural Dysfunction and Neurodegeneration inDrosophila Na+/K+ ATPase Alpha Subunit Mutants , 2003, The Journal of Neuroscience.
[2] A. Lang,et al. A novel locus for inherited myoclonus-dystonia on 18p11 , 2002, Neurology.
[3] S. Bressman,et al. Rapid‐onset dystonia‐parkinsonism in a second family , 1997, Neurology.
[4] Hiromi Nomura,et al. Structural changes in the calcium pump accompanying the dissociation of calcium , 2002, Nature.
[5] X. Breakefield,et al. Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene , 2004, Movement Disorders.
[6] L. Ozelius,et al. Classification and genetics of dystonia , 2002, The Lancet Neurology.
[7] K. Sweadner,et al. Structural similarities of Na,K-ATPase and SERCA, the Ca(2+)-ATPase of the sarcoplasmic reticulum. , 2001, The Biochemical journal.
[8] J. Abrahams,et al. ATP-induced conformational changes of the nucleotide-binding domain of Na,K-ATPase , 2003, Nature Structural Biology.
[9] X. Breakefield,et al. Rapid‐onset dystonia‐parkinsonism , 1993, Neurology.
[10] K. Abe,et al. The oligomeric nature of Na/K-transport ATPase. , 2001, Journal of biochemistry.
[11] X. Breakefield,et al. Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. , 1998, Advances in neurology.
[12] J. Hottenga,et al. Novel mutations in the Na+, K+‐ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions , 2003, Annals of neurology.
[13] G. Vriend,et al. Homology modeling. , 2020, Methods of biochemical analysis.
[14] J. Nakai,et al. Degeneration of the Amygdala/Piriform Cortex and Enhanced Fear/Anxiety Behaviors in Sodium Pump α2 Subunit (Atp1a2)-Deficient Mice , 2003, The Journal of Neuroscience.
[15] O. Hardiman,et al. Rapid-onset dystonia-parkinsonism , 2000, Neurology.
[16] M. Nakasako,et al. Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 Å resolution , 2000, Nature.
[17] A. Ballabio,et al. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2 , 2003, Nature Genetics.
[18] E. M. Price,et al. Structure-function studies of Na,K-ATPase. Site-directed mutagenesis of the border residues from the H1-H2 extracellular domain of the alpha subunit. , 1990, The Journal of biological chemistry.
[19] K. Håkansson. The crystallographic structure of Na,K-ATPase N-domain at 2.6A resolution. , 2003, Journal of molecular biology.
[20] L. Ozelius,et al. Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13 , 2004, Movement disorders : official journal of the Movement Disorder Society.
[21] X. Breakefield,et al. Rapid‐onset dystonia–parkinsonism: Linkage to chromosome 19q13 , 1999, Annals of neurology.
[22] Short and Long Range Functions of Amino Acids in the Transmembrane Region of the Sarcoplasmic Reticulum ATPase , 1996, The Journal of Biological Chemistry.
[23] E. Siemers,et al. PET imaging of the pre‐synaptic dopamine uptake sites in rapid‐onset dystonia‐parkinsonism (RDP) , 1999, Movement disorders : official journal of the Movement Disorder Society.
[24] K. Takeyasu,et al. Ouabain-sensitive (Na+ + K+)-ATPase activity expressed in mouse L cells by transfection with DNA encoding the alpha-subunit of an avian sodium pump. , 1988, The Journal of biological chemistry.
[25] A. Askari,et al. Role of the self-association of beta subunits in the oligomeric structure of Na+/K+-ATPase. , 2002, The Biochemical journal.
[26] H. Glitsch,et al. Comparison of ouabain-sensitive and -insensitive Na/K pumps in HEK293 cells. , 1997, Biochimica et biophysica acta.
[27] KM McGrail,et al. Immunofluorescent localization of three Na,K-ATPase isozymes in the rat central nervous system: both neurons and glia can express more than one Na,K-ATPase , 1991, The Journal of neuroscience : the official journal of the Society for Neuroscience.
[28] K. Sweadner,et al. Distribution and oligomeric association of splice forms of Na(+)-K(+)-ATPase regulatory gamma-subunit in rat kidney. , 2002, American journal of physiology. Renal physiology.
[29] A. Sali,et al. Comparative protein structure modeling of genes and genomes. , 2000, Annual review of biophysics and biomolecular structure.
[30] D. Maclennan,et al. Scanning Mutagenesis Reveals a Similar Pattern of Mutation Sensitivity in Transmembrane Sequences M4, M5, and M6, but Not in M8, of the Ca2+-ATPase of Sarcoplasmic Reticulum (SERCA1a)* , 1996, The Journal of Biological Chemistry.
[31] J. Horisberger,et al. Structure of the 5th transmembrane segment of the Na,K‐ATPase α subunit: a cysteine‐scanning mutagenesis study , 2000, FEBS letters.
[32] U. Müller,et al. Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism , 2003, Proceedings of the National Academy of Sciences of the United States of America.
[33] J. Ramirez,et al. The Na,K-ATPase α2 Isoform Is Expressed in Neurons, and Its Absence Disrupts Neuronal Activity in Newborn Mice* , 2003, The Journal of Biological Chemistry.
[34] N. Van Blercom,et al. Possible sporadic rapid‐onset dystonia–parkinsonism , 2002, Movement disorders : official journal of the Movement Disorder Society.
[35] Masayoshi Nakasako,et al. Crystal structure of the calcium pump of sarcoplasmic reticulum at , 2000 .
[36] C. Toyoshima,et al. Homology modeling of the cation binding sites of Na+K+-ATPase , 2002, Proceedings of the National Academy of Sciences of the United States of America.