Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency-Reference-Cited by-同舟云学术

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Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency

Published:2017-05 Issue:5 Volume:81 Page:641-652
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Lopez-Gomez Carlos¹,Levy Rebecca J.¹,Sanchez-Quintero Maria J.¹,Juanola-Falgarona Martí¹,Barca Emanuele¹²,Garcia-Diaz Beatriz¹³,Tadesse Saba¹,Garone Caterina¹⁴,Hirano Michio¹

Affiliation:

1. Department of Neurology; H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center; New York NY

2. Department of Clinical and Experimental Medicine; University of Messina; Messina Italy

3. Unidad de Gestión Clínica de Neurociencias; Instituto de Investigación Biomédica de Málaga (IBIMA), Hospital Regional Universitario de Málaga; Spain

4. MRC Mitochondrial Biology Unit; Cambridge University; Cambridge United Kingdom

Funder

Muscular Dystrophy Association

Associazione Malattie Metaboliche Congenite ereditarie (AMMeC)

Arturo Estopinan TK2 Research Fund

Marriott Mitochondrial Disease Clinic Research Fund (MMDCRF)

J. Willard and Alice S. Marriott Foundation

National Institutes of Health

National Institute of Child Health and Human Development

Office of Dietary Supplements

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.24922/fullpdf

Reference26 articles.

1. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy;Saada;Nat Genet,2001

2. Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion;Lesko;Neuromuscul Disord,2010

3. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA;Mancuso;Neurology,2002

4. Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum;Behin;Neurology,2012

5. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions;Tyynismaa;Hum Mol Genet,2012

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1. Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease;Annals of Neurology;2024-09-04

2. Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial;eClinicalMedicine;2024-08

3. Pharmacokinetics and Safety of a 1:1 Mixture of Doxecitine and Doxribtimine: Open-label Phase 1 Single Ascending Dose and Food Effect Studies in Healthy Adults;Clinical Therapeutics;2024-07

4. Decoding the mitochondria without a code: mechanistic insights into mitochondrial DNA depletion syndromes;Journal of Biosciences;2024-02-19

5. Zebrafish as a model for study of disorders in pyrimidine nucleotide metabolism;Nucleosides, Nucleotides & Nucleic Acids;2023-12-28

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