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Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.
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Europe PubMed Central
PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
title
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
(English)
1 reference
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Europe PubMed Central
PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
author
Caterina Garone
series ordinal
1
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Europe PubMed Central
PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
Beatriz Garcia Diaz
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2
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PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
Luis C. López
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4
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4154130
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
author name string
Valentina Emmanuele
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3
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4154130
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
Saba Tadesse
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5
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Europe PubMed Central
PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
Hasan O Akman
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6
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Europe PubMed Central
PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
Kurenai Tanji
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7
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Europe PubMed Central
PMC publication ID
4154130
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
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21 March 2020
Catarina M Quinzii
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8
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4154130
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
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21 March 2020
Michio Hirano
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9
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PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
publication date
1 August 2014
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4154130
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
published in
EMBO Molecular Medicine
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PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
volume
6
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PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
issue
8
1 reference
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Europe PubMed Central
PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
page(s)
1016-1027
1 reference
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Europe PubMed Central
PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
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11 June 2022
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https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4154130/fullTextXML
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cites work
Measurement of mitochondrial dNTP pools.
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PubMed Central
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5 July 2018
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5 July 2018
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Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
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Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome
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PubMed Central
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Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.
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Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice
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Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
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5 July 2018
Mitochondrial deoxynucleotide pool sizes in mouse liver and evidence for a transport mechanism for thymidine monophosphate
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5 July 2018
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE
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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
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5 July 2018
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
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5 July 2018
Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency
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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154130
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5 July 2018
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
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PubMed Central
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5 July 2018
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5 July 2018
Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis
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5 July 2018
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28 October 2018
Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity
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28 October 2018
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
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28 October 2018
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes
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28 October 2018
New mutations in TK2 gene associated with mitochondrial DNA depletion.
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154130
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28 October 2018
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154130
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28 October 2018
Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154130
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28 October 2018
Modulation of deoxynucleotide metabolism by the deoxycytidylate deaminase inhibitor 3,4,5,6-tetrahydrodeoxyuridine
1 reference
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PubMed
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https://pubmed.ncbi.nlm.nih.gov/24968719
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24968719
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.15252/EMMM.201404092
1 reference
stated in
Europe PubMed Central
PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
PMC publication ID
4154130
1 reference
stated in
Europe PubMed Central
PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
PubMed publication ID
24968719
1 reference
stated in
Europe PubMed Central
PMC publication ID
4154130
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24968719%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 March 2020
ResearchGate publication ID
263516353
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