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Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.

作者信息

Cámara Yolanda, Carreño-Gago Lidia, Martín Miguel A, Melià Maria J, Blázquez Alberto, Delmiro Aitor, Garrabou Gloria, Morén Constanza, Díaz-Manera Jorge, Gallardo Eduard, Bornstein Belén, López-Gallardo Ester, Hernández-Lain Aurelio, San Millán Beatriz, Cancho Esther, Rodríguez-Vico Jaime Samuel, Martí Ramon, García-Arumí Elena

机构信息

From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.

出版信息

Neurology. 2015 Jun 2;84(22):2286-8. doi: 10.1212/WNL.0000000000001644. Epub 2015 May 6.

DOI:10.1212/WNL.0000000000001644
PMID:25948719
Abstract
摘要

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引用本文的文献

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2
Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.线粒体DNA耗竭综合征及其相关心脏疾病。
Front Cardiovasc Med. 2022 Feb 14;8:808115. doi: 10.3389/fcvm.2021.808115. eCollection 2021.
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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.协作式极罕见疾病诊断与治疗模式:西班牙胸苷激酶 2 缺乏症诊治经验
Orphanet J Rare Dis. 2021 Oct 2;16(1):407. doi: 10.1186/s13023-021-02030-w.
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Therapy Prospects for Mitochondrial DNA Maintenance Disorders.线粒体 DNA 维持障碍的治疗前景。
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Negative Cooperative Binding of Thymidine, Ordered Substrate Binding, and Product Release of Human Mitochondrial Thymidine Kinase 2 Explain Its Complex Kinetic Properties and Physiological Functions.胸苷的负协同结合、有序底物结合以及人线粒体胸苷激酶2的产物释放解释了其复杂的动力学特性和生理功能。
ACS Omega. 2018 Aug 13;3(8):8971-8979. doi: 10.1021/acsomega.8b01376. eCollection 2018 Aug 31.
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Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency.生物利用度和胞质激酶调节 TK2 缺乏症患者对脱氧核苷治疗的反应。
EBioMedicine. 2019 Aug;46:356-367. doi: 10.1016/j.ebiom.2019.07.037. Epub 2019 Aug 2.
7
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.脱氧核苷疗法治疗胸苷激酶 2 缺乏性肌病。
Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17.
8
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Orphanet J Rare Dis. 2019 May 6;14(1):100. doi: 10.1186/s13023-019-1071-z.
9
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