Comparative analysis of alternating hemiplegia of childhood and rapid-onset 
dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do 
not correlate with disease severity

Lazarov, Elinor; Hillebrand, Merle; Schröder, Simone; Ternka, Katharina; Hofhuis, Julia; Ohlenbusch, Andreas; Barrantes-Freer, Alonso; Pardo, Luis A.; Fruergaard, Marlene U.; Nissen, Poul; Brockmann, Knut; Gärtner, Jutta; Rosewich, Hendrik

doi:10.1016/j.nbd.2020.105012

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity

Lazarov, E., Hillebrand, M., Schröder, S., Ternka, K., Hofhuis, J., Ohlenbusch, A., Barrantes-Freer, A., Pardo, L. A., Fruergaard, M. U., Nissen, P., Brockmann, K., Gärtner, J., & Rosewich, H. (2020). Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity. Neurobiology of Disease, 143, 105012. doi:10.1016/j.nbd.2020.105012.

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アイテムのパーマリンク: https://hdl.handle.net/21.11116/0000-0009-F261-8 版のパーマリンク: https://hdl.handle.net/21.11116/0000-0009-F262-7

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Lazarov, Elinor¹, 著者
Hillebrand, Merle¹, 著者
Schröder, Simone¹, 著者
Ternka, Katharina¹, 著者
Hofhuis, Julia¹, 著者
Ohlenbusch, Andreas¹, 著者
Barrantes-Freer, Alonso¹, 著者
Pardo, Luis A.¹, 著者
Fruergaard, Marlene U.¹, 著者
Nissen, Poul¹, 著者
Brockmann, Knut¹, 著者
Gärtner, Jutta¹, 著者
Rosewich, Hendrik¹, 著者

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1Max Planck Society, ou_persistent13

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キーワード: Parkinsonism Alternating hemiplegia of childhood AHC Rapid-onset dystonia-parkinsonism RDP ATP1A3 P-type ATPase Na/K-ATPase alpha 3 subunit Movement disorder

要旨: Heterozygous mutations in the ATP1A3 gene, coding for an alpha subunit isoform (α3) of Na+/K+-ATPase, are the primary genetic cause for rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC). Recently, cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS), early infantile epileptic encephalopathy (EIEE), childhood rapid onset ataxia (CROA) and relapsing encephalopathy with rapid onset ataxia (RECA) extend the clinical spectrum of ATP1A3 related disorders. AHC and RDP demonstrate distinct clinical features, with AHC symptoms being generally more severe compared to RDP. Currently, it is largely unknown what determines the disease severity, and whether severity is linked to the degree of functional impairment of the α3 subunit. Here we compared the effect of twelve different RDP and AHC specific mutations on the expression and function of the α3 Na+/K+-ATPase in transfected HEK cells and oocytes. All studied mutations led to functional impairment of the pump, as reflected by lower survival rate and reduced pump current. No difference in the extent of impairment, nor in the expression level, was found between the two phenotypes, suggesting that these measures of pump dysfunction do not exclusively determine the disease severity. GenBank RefSeq accession numbers: ATP1A3: NM_152296.4; ATP1B1: NM_001677.3.

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日付: オンライン出版: 2020-07-10出版: 2020-07-13

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識別子（DOI, ISBNなど）: その他: 32653672
DOI: 10.1016/j.nbd.2020.105012
ISSN: 0969-9961

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出版物名: Neurobiology of Disease

種別: 学術雑誌

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ページ: - 巻号: 143 通巻号: - 開始・終了ページ: 105012 識別子（ISBN, ISSN, DOIなど）: -

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