搜索页_+mtDNA+depletion

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在“Elsevier电子期刊”中，命中：215条，耗时：小于0.01 秒

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1.Mitochondrial defects arise from nucleoside/nucleotide reverse transcriptase inhibitors in neurons: Potential contribution to HIV-associated neurocognitive disorders

作者：Kui-Ming Hung^a ; ^b ; Pei-Chun Chen^b ; Han-Chieh Hsieh^c ; Marcus J Calkins^a ; ^{mjcalkins@mail.ncku.edu.tw}

关键词：NRTI ; nucleoside/nucleotide reverse transcriptase inhibitor ; HAND ; HIV-associated neurocognitive disorders ; cART ; combination antiretroviral therapy ; pol γ ; polymerase γ ; mtDNA ; mitochondrial DNA ; ddI ; didanosine ; AZT ; zidovudine ; FTC ; emtricitabine ; TDF ; tenofovir ; ddC ; zalcitabine ; d4T ; stavudine ; 3TC ; lamivudine ; ABC ; abacavir ; PGC-1α ; peroxisome proliferator-activated receptor γ coactivator 1α ; mtUPR ; mitochondrial unfolded protein response ; CO1 ; Cytochrome oxidase I ; ND1 ; NADH Dehydrogenase

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

出版年：2017

2.Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

作者：Ashlee R. Stiles^a ; ^b ; ¹ ; Mariella T. Simon^c ; ^d ; ¹ ; Alexander Stover^c ; Shaya Eftekharian^c ; Negar Khanlou^a ; Hanlin L. Wang^a ; Shino Magaki^a ; Hane Lee^a ; ^b ; Kate Partynski^c ; Nagmeh Dorrani^e ; Richard Chang^c ; Julian A. Martinez-Agosto^b ; ^e ; ^f ; Jose E. Abdenur^c ; ^g ; ^{jabdenur@choc.org" class="auth_mail" title="E-mail the corresponding author}

关键词：TFAM mutation ; mtDNA depletion syndrome ; Liver failure ; Newborn screening ; Mitochondrial disease

刊名：Molecular Genetics and Metabolism

出版年：2016

3.A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13

关键词：FBXL4 ; c.1442T>C ; p.Leu481Pro ; Mitochondrial disorder ; mtDNA depletion ; MTDPS13

刊名：European Journal of Medical Genetics

出版年：2016

4.Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency

作者：Roa Sadat^a ; Emanuele Barca^c ; ^d ; Ruchi Masand^b ; Taraka R. Donti^b ; Ali Naini^d ; Darryl C. De Vivo^e ; Salvatore DiMauro^d ; Neil A. Hanchard^a ; ^b ; Brett H. Graham^b ; ^{bgraham@bcm.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Whole exome sequencing ; mtDNA depletion ; Neurodegenerative disease ; TCA cycle ; Mitochondrial aconitase deficiency

刊名：Molecular Genetics and Metabolism

出版年：2016

5.Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion

作者：Hemant Varma^a ; ^e ; Phyllis L. Faust^a ; Alejandro D. Iglesias^b ; Stephen M. Lagana^a ; Karen Wou^c ; Michio Hirano^d ; Salvatore DiMauro^d ; Mahesh M. Mansukani^a ; ^e ; Kirsten E. Hoff^f ; Peter L. Nagy^a ; ^e ; William C. Copeland^f ; ^{copelan1@niehs.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Ali B. Naini^a ; ^e ; ^{abn2@cumc.columbia.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Mitochondrial DNA depletion ; POLG2 ; Hepatic failure ; Whole-exome sequencing ; POLG

刊名：European Journal of Medical Genetics

出版年：2016

6.Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome

关键词：COX ; cytochrome oxidase ; M2 ; deoxyguanosine kinase-deficient rat model ; DGUOK ; deoxyguanosine kinase ; EPR (ESR) ; electron paramagnetic (spin) resonance (spectroscopy) ; FeS ; iron&ndash ; sulfur (cluster) ; H&E ; hematoxylin and eosin ; MD ; mitochondrial disease ; MDS ; mitochondrial DNA depletion syndrome ; MPV17 ; mitochondrial inner membrane protein ; mtDNA ; mitochondrial DNA ; NADH ; reduced nicotinamide adenine dinucleotide ; POLG ; DNA polymerase γ ; SDH ; succinate dehydrogenase ; TWINKLE ; a mitochondrial D

刊名：Free Radical Biology and Medicine

出版年：2016

7.Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure

作者：Annalinda Pisano^a ; Bruna Cerbelli^a ; Elena Perli^a ; Maria Pelullo^b ; Valentina Bargelli^c ; Carmela Preziuso^a ; Massimiliano Mancini^a ; ^b ; Langping He^d ; Matthew GD Bates^d ; Joaquin R Lucena^e ; Paola Lilla Della Monica^f ; Giuseppe Familiari^g ; Vincenzo Petrozza^h ; Chiara Nediani^c ; Robert W Taylor^d ; Giulia d&rsquo ; Amati^a ; Carla Giordano^a ; ^{carla.giordano@uniroma1.it" class="auth_mail" title="E-mail the corresponding author}

关键词：HF ; heart failure ; LV ; left ventricular ; OXPHOS ; oxidative phosphorylation ; mtDNA ; mitochondrial DNA ; MIC ; mitochondrial cardiomyopathies ; LCM ; laser capture microdissection ; COX ; cytochrome c oxidase ; SDH ; succinate dehydrogenase ; TEM ; transmission electron microscopy ; PPARα ; peroxisome proliferator-activated receptor alpha PPARA ; PGC-1α ; peroxisome proliferator-activated receptor gamma coactivator 1 alpha ; PPARGC1A ; NPPA ; natriuretic peptide A ; NRF1 ; nuclear respiratory factor 1 ; ERRα ; estroge

刊名：Cardiovascular Pathology

出版年：2016

8.Effects of reduced mitochondrial DNA content on secondary mitochondrial toxicant exposure in Caenorhabditis elegans

作者：Anthony L. Luz ^{anthony.luz@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Joel N. Meyer ; ^{joel.meyer@duke.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：mtDNA depletion ; Caenorhabditis elegans ; DNA damage ; Ultraviolet C ; Arsenite ; Environmental toxicant

刊名：Mitochondrion

出版年：2016

9.Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria

作者：Yupeng Liu ; Xiyuan Li ; Qiao Wang ; Yuan Ding ; Jinqing Song ; Yanling Yang ; ^{organic.acid@126.com" class="auth_mail" title="E-mail the corresponding author} ; ^{yanlingy@vip.sina.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Methylmalonic aciduria ; Succinate-CoA ligase deficiency ; Encephalomyopathy ; Mitochondrial DNA depletion ; SUCLG1

刊名：Brain and Development

出版年：2016

10.Lack of mitochondrial DNA impairs chemical hypoxia-induced autophagy in liver tumor cells through ROS-AMPK-ULK1 signaling dysregulation independently of HIF-1α

作者：Jose J.G. Marin^a ; Elisa Lozano^a ; Maria J. Perez^a ; ^b ; ^{mjperez@usal.es}

关键词：Akt ; protein kinase B ; AMPK ; AMP-activated protein kinase ; AVOs ; acidic vesicular organelles ; BNIP3 ; BCL2/adenovirus E1B 19 ; kDa interacting protein 3 ; BNIP3L ; BCL2/adenovirus E1B 19 ; kDa interacting protein 3-like ; CCND1 ; cyclin D1 ; CFSE ; 5-(6)-carboxyfluorescein diacetate succinimidyl ester ; CQ ; chloroquine ; CHOP ; C/EBP homologous protein ; CoCl2 ; cobalt chloride ; DCFH-DA ; 2&prime ; 7&prime ; -dichlorofluorescein diacetate ; DFO ; deferoxamine ; ER ; endoplasmic reticulum ; ERK ; extracellular r

刊名：Free Radical Biology and Medicine

出版年：2016

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