The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
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The Druze: a population genetic refugium of the Near EastTreatment for mitochondrial disordersTreatment for mitochondrial disordersLoss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseMPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionDeficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionTwinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNAAAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failureMitochondriaKinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletionDeficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletionNavajo neurohepatopathy is caused by a mutation in the MPV17 geneMitochondrial disease in adults: what's old and what's new?Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityMitochondrial disease in childhood: nuclear encodedMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsReplication proteins and human diseaseBiochemical diagnosis of mitochondrial disordersNucleotide salvage deficiencies, DNA damage and neurodegenerationMitochondrial DNA depletion and dGK gene mutationsA novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNAMutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletionEnzyme kinetics of the mitochondrial deoxyribonucleoside salvage pathway are not sufficient to support rapid mtDNA replicationLimited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient miceHistorical perspective on mitochondrial medicineMitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic studyCentral nervous system manifestations of mitochondrial disorders.Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.Mitochondrial mosaics in the liver of 3 infants with mtDNA defectsThe in-depth evaluation of suspected mitochondrial diseaseA critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization.Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkMitochondrial disorders of the nuclear genomeInborn errors in purine metabolism: role of 5'-nucleotidases and their involvement in the etiology of neurological impairments.Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.Inherited mitochondrial DNA depletion.Defects in mitochondrial DNA replication and human disease
P2860
Q21144319-08511A89-7814-461B-8DB8-1209A71888A8Q24200432-A41E3264-E5FC-450A-BB25-1A5D7D00FA6AQ24244543-8AFBFD8E-706C-42A1-AE68-2B5B85F63386Q24308200-62C89CEE-A3F1-4023-A090-31BCCE027854Q24313262-2A788897-B8CD-443D-B426-096C3728F475Q24530876-7CF00E06-5C9D-4BAB-9FBC-C52546FE55ACQ24563813-400D1C8A-5DC3-4090-9FA0-F506E4AF476EQ24622009-C2A11657-24CA-4BC2-AB4B-D2185D48B7E2Q24671804-DEF00BC3-F9DA-4BF8-AC45-32D92746BBBBQ24675030-0C96970C-2FBA-47D7-BF6E-F547DF2FFE46Q24678341-24D4DC75-696F-4B9E-AD3C-9D3F0A0FDA76Q24678502-28A23853-739A-4AEC-8420-D3B39E2E3720Q26776417-DE1015CB-1339-485E-9FBA-952F286AB037Q26801194-9A6D94F2-E40F-4615-99CA-08A7E9EBDBCAQ26820866-BF743415-101E-4043-BDD5-A7987299DF56Q26865135-D205C6A3-88B2-4DA3-9548-79CCB08E36F1Q27022050-242A62F0-C166-4A73-9880-4262EC3A798FQ27990527-54E2AAB0-4FA4-46F5-9E20-831D4780930AQ28081515-7AE0897D-D2E6-467C-9752-42FB73F40D01Q28219880-3104E1F1-FBE3-4B17-BD89-189433688523Q28220775-AB97BCFB-EB92-46BE-AABB-B7F4A0582F3BQ28301052-083A029E-4292-40E7-A780-3EC09F734EE3Q28476437-93536685-6A7A-42DA-BE17-2F73534F477CQ28477625-C983135E-53C3-42AC-BE5B-15A14580FF93Q28504546-BC28504E-A8D7-4620-9A7B-27E5E8DE1A38Q28513054-87F04A3B-64DF-4199-8549-9DE4F2686AE7Q28661465-27B7746B-57FA-4153-BA50-732D07CC6777Q30447289-B81A5CFE-0E18-4E93-BEAC-5D3B7FF063AEQ31058031-3F1007DC-8CD8-4D5A-A6F3-FA6C0570239AQ33372029-745B3F46-6A1A-464D-A88B-0F0B5445BE0CQ33461789-16C6DBBB-D59E-4017-9EEE-0EA507A74CC4Q33608204-5DCE870A-2437-4E2F-B461-98DA97D4783CQ33783130-74307559-1C57-4D6E-9A02-38DA45CF09EFQ33810387-1952E253-F929-43A9-AE1D-E4CB781B3A29Q33810406-C6CEFE69-F6F3-42C1-B1C6-E041D42CBF51Q34029609-9F70C66D-691B-4604-B3F7-A4D8504EE71DQ34131169-DEA67A73-66F4-4039-8F32-149CE428F302Q34147661-170FEB31-420C-4EAB-8642-2F5E40CB358EQ34195471-DBDDBCB5-BC42-45AF-B7D9-9D096B51F678Q34241192-31AB57BB-56E2-4076-95C7-CC8352656F7E
P2860
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
description
2001 nî lūn-bûn
@nan
2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The deoxyguanosine kinase gene ...... patocerebral mitochondrial DNA
@ast
The deoxyguanosine kinase gene ...... patocerebral mitochondrial DNA
@en
The deoxyguanosine kinase gene ...... patocerebral mitochondrial DNA
@nl
type
label
The deoxyguanosine kinase gene ...... patocerebral mitochondrial DNA
@ast
The deoxyguanosine kinase gene ...... patocerebral mitochondrial DNA
@en
The deoxyguanosine kinase gene ...... patocerebral mitochondrial DNA
@nl
prefLabel
The deoxyguanosine kinase gene ...... patocerebral mitochondrial DNA
@ast
The deoxyguanosine kinase gene ...... patocerebral mitochondrial DNA
@en
The deoxyguanosine kinase gene ...... patocerebral mitochondrial DNA
@nl
P2093
P356
P1433
P1476
The deoxyguanosine kinase gene ...... patocerebral mitochondrial DNA
@en
P2093
D Berkowitz
S Eriksson
P2888
P304
P356
10.1038/NG746
P407
P50
P577
2001-11-01T00:00:00Z