mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.
about
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionHuman mitochondrial DNA with large deletions repopulates organelles faster than full-length genomes under relaxed copy number control.Molecular mechanisms of insulin resistance in humans and their potential links with mitochondrial dysfunctionAn autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3pMitochondrial disease in childhood: nuclear encodedMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsThe cold sensitivity of a mutant of Saccharomyces cerevisiae lacking a mitochondrial heat shock protein 70 is suppressed by loss of mitochondrial DNA.Reactive oxygen species regulate DNA copy number in isolated yeast mitochondria by triggering recombination-mediated replication.Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.The kinetic effects on thymidine kinase 2 by enzyme-bound dTTP may explain the mitochondrial side effects of antiviral thymidine analogsHistorical perspective on mitochondrial medicineMitochondrial DNA content contributes to climate adaptation using Chinese populations as a modelMitochondrial 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 studyMitochondrial mosaics in the liver of 3 infants with mtDNA defectsEncephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkInborn errors of energy metabolism associated with myopathies.Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?Clinical mitochondrial genetics.CREB activation induced by mitochondrial dysfunction is a new signaling pathway that impairs cell proliferation.Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.Thymidine kinase 2 deficiency-induced mtDNA depletion in mouse liver leads to defect β-oxidationMaintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines.Mitochondrial DNA: impacting central and peripheral nervous systems.Renal mitochondrial cytopathies.Pedigree models for complex human traits involving the mitochondrial genome.Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.The fate of human sperm-derived mtDNA in somatic cells.Multiple presentation of mitochondrial disordersLack of myostatin results in excessive muscle growth but impaired force generation.The awakening of an advanced malignant cancer: an insult to the mitochondrial genomeThe development of mitochondrial medicine.Renal involvement in mitochondrial cytopathies.Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.Altered Mitochondrial Function, Mitochondrial DNA and Reduced Metabolic Flexibility in Patients With Diabetic Nephropathy.In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.Expanding the functional human mitochondrial DNA database by the establishment of primate xenomitochondrial cybrids.Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes
P2860
Q24530876-1406734D-A4F1-46BC-B1F4-7A971492A995Q24540411-ADA3CDAD-420B-451B-B8FE-77BDD7DE55EBQ24632414-C4959357-D105-4B3F-8A04-B173A74BD36AQ24676151-1C358ABC-2298-484A-AAEB-7CC6480C3312Q26820866-0E93EB48-F3C7-4380-8E71-0CE4CAB90B49Q26865135-99F5196D-93BF-48D9-A034-82CD08952276Q27935128-EB484F94-7175-4813-A70F-C6AF6F8ABCBBQ27939492-4F6792FC-9681-4ED3-90C5-0299288E2B99Q28504546-C997DC49-6256-4715-9CAB-E15358ABC8BFQ28565523-F9C3E129-DB15-4FBB-A2BA-1E973D9E5430Q28661465-F8F85F37-90F6-49FF-A955-1A9467F9026EQ28661703-98B89BB0-D04C-4951-A15F-AF3011CE1EECQ30447289-C05B2AD3-F4EB-4743-A7E0-F7EA8632713CQ33461789-873D5A42-D4C6-4005-8D4B-5AC975E3B953Q33810387-3E2535D2-43BA-4476-A089-DEF716F2D7DDQ33879587-36BCAAA5-3BE3-48C4-BA31-8D261C4290D0Q33910255-F026418A-DD1A-4EBF-9DB4-73567FC414D4Q33955376-382BD9A7-504E-4EB2-93C4-8C2F2298F3EDQ34085469-956F6798-D25A-436F-9A4D-8F17AB66EAD5Q34201844-126708AF-59C2-448B-AA44-AC77FB576694Q34626065-85223467-B563-4CEA-8DA8-EBCCB53AFCBBQ34733032-CD7A1793-9229-4E33-A89C-4848517700CDQ34737643-E06F1533-AF28-48FE-BB52-90CDCC78EF41Q35137727-79A7A0B2-7BF8-46FB-839F-514C35B14270Q35195183-E2FC8DE2-1CE6-4BD0-8C2B-080091F73586Q35200188-A2BF984F-24DA-4342-85D5-758E5D77E5F5Q35249690-840238BF-8C8A-4CD6-AF6B-65FD83632771Q35264537-D6CE3652-E162-4BE2-9184-F3A68AC3BB68Q35629418-51FCF4E8-E47B-410A-AB91-7B59DD9B32E9Q35718294-1E60C1DF-C88C-49A7-BF7A-CBAFAE5EA60CQ35744478-427FA7A5-48D3-47DE-85FE-3C5CF35423C7Q35783708-779AB126-D29E-4183-B8B7-BAD2A87BF947Q35787268-E99042EB-307B-474C-985D-574E737F07B5Q35807951-5B7F6F6D-9F2E-4BA3-9D44-ED0DFD16832BQ35947731-BAAFC8D0-8052-4E84-9C19-CAE3B0F5B24BQ36551176-0603DFD1-F2FE-452E-B45C-249DC91ADACEQ36554118-9D99BC7F-4AF2-474D-960C-F80DE7928226Q36794013-FEAF2F48-254D-4C15-B053-CB1348E5A21CQ36811500-C9B91DA1-0ADE-4E73-A51B-9716CBE1280CQ36833539-79FAC46C-F1A8-45D2-BBCA-042B3CF26102
P2860
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.
description
1991 nî lūn-bûn
@nan
1991 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի մարտին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
mtDNA depletion with variable ...... ity in mitochondrial diseases.
@ast
mtDNA depletion with variable ...... ity in mitochondrial diseases.
@en
type
label
mtDNA depletion with variable ...... ity in mitochondrial diseases.
@ast
mtDNA depletion with variable ...... ity in mitochondrial diseases.
@en
prefLabel
mtDNA depletion with variable ...... ity in mitochondrial diseases.
@ast
mtDNA depletion with variable ...... ity in mitochondrial diseases.
@en
P2093
P2860
P1476
mtDNA depletion with variable ...... ity in mitochondrial diseases.
@en
P2093
C T Moraes
F Andreetta
H J Tritschler
J R Aprille
P2860
P304
P407
P577
1991-03-01T00:00:00Z