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Volume 12; Issue 5

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Mitochondrion
Volume 12; Issue 5

Mitochondrion

Volume 12; Issue 5

1

Comprehensive analysis of entire mitochondrial genome by long-range PCR and next generation sequencing for the diagnosis of mitochondrial disorders: Yield of 216 cases

Renkui Bai, Jaimie Higgs, Sharon Suchy, Mustafa Saifi, Melanie Knight, Sabrina Buchholz, Sonia Benhamed, Dolores Arjona, Barbara Boggs, Craig Chinault, Yuriy Shevchenko, Nizar Smaoui, Gabriele Richard

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 64 KB

english, 2012

2

Mitochondrial genome variability within the Candida parapsilosis species complex

Matus Valach, Leszek P. Pryszcz, Lubomir Tomaska, Attila Gacser, Toni Gabaldón, Jozef Nosek

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 781 KB

english, 2012

3

Editorial Board

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 25 KB

english, 2012

4

A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations

John W. Yarham, Robert McFarland, Robert W. Taylor, Joanna L. Elson

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 740 KB

english, 2012

5

D-MTERF5 is a novel factor modulating transcription in Drosophila mitochondria

Francesco Bruni, Caterina Manzari, Mariacristina Filice, Paola Loguercio Polosa, Matilde Colella, Claudia Carmone, Elena Hambardjieva, Miguel Garcia-Diaz, Palmiro Cantatore, Marina Roberti

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 923 KB

english, 2012

6

Mutagenesis of mouse mitochondrial DNA

Mikhail Alexeyev, Rafik Fayzulin

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 129 KB

english, 2012

7

Optimizing patient care and outcome measures: which complaints are most burdensome to patients and their parents?

Saskia Koene, Saskia Wortmann, Eva Morava, Maaike de Vries, Jan Smeitink

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 147 KB

english, 2012

8

MELAS and l-arginine therapy —therapeutic timing and long term effects

Yasutoshi Koga, Toshi Abe, Takayuki Taniwaki, Povalko Nataliya

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 58 KB

english, 2012

9

A novel sequence variant of tRNAThr in mtDNA, transferred by bone marrow transplantation in patient with ALL

Nataliya Povalko, Yoshihisa Nagatoshi, Hiroko Inada, Shuichi Yatsuga, Yasutoshi Koga

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 58 KB

english, 2012

10

The comparative study of actin and myosin genes in Molgula manhattensis, Styela clava, and Limulus polyphemus: Implication on mitochondrial DNA maintenance

Caitlin A. Baker, Meghan F. Buckley, Taylor L. DeRosa, Jenna A. Hernandez, Erin L. Hillis, Caroline R. Luciani, Rita Matta, Alexandra R. Novak, Christine C. Smith, Qingyu Xu, Mary Jane Paolella

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 77 KB

english, 2012

11

Evolution of the actin gene: Comparing DNA sequences of Limulus polyphemus and Argopecten irradians and the implication in mitochondrial function

Katie E. Arnone, Elizabeth H. Bailey, Clare J. Donohue, Marisa K. Ferraro, Andrea L. Grammatico, Anna V. Marren, Angela M. Onofrio, Emily R. Roth, Xenia D. Zueva, Mary Jane Paolella

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 63 KB

english, 2012

12

Nicotine affects mitochondrial dynamics and function by modulating nicotinic acetylcholine receptor (nAChR) α3β4 and via nAChR independent mechanisms

Danielle DiPerna, Lori Buhlman

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 63 KB

english, 2012

13

Low level of MtDNA mutation promotes mitochondrial bioenergetics and oxidative metabolism via retrograde signaling

Sarika Srivastava, Karina N. Gonzalez Herrera, Vincent Proacccio, Douglas C. Wallace, Marcia C. Haigis

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 55 KB

english, 2012

14

Rapid breath test for in vivo determination of human pyruvate dehydrogenase complex activity

Peter W. Stacpoole, David A. Wagner

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 55 KB

english, 2012

15

Spontaneous elimination of mitochondrial mutations during the induction of pluripotency

Neal Sondheimer, Ornella Zollo, Jason A. Mills, Catherine E. Glatz, Paul Gadue, Deborah L. French

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 71 KB

english, 2012

16

Glucose kinetics in subjects with MELAS syndrome: Interim results

Ayman W. El-Hattab, Lisa Emrick, Jean W.C. Hsu, Farook Jahoor, Fernando Scaglia, William Craigen

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 57 KB

english, 2012

17

The role of a taurine-containing wobble modification deficiency in MELAS

Chian Ju Jong, K.C. Ramila, Takashi Ito, Junichi Azuma, Stephen Schaffer

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 75 KB

english, 2012

18

Thymidine phosphorylation by transgene expression of the Drosophila melanogaster nucleoside kinase rescues the pathology of mitochondrial TK2 deficiency

Shuba Krishnan, Xiaoshan Zhou, Joao Paredes, Anna Karlsson

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 63 KB

english, 2012

19

The neurogenic basic helix-loop-helix transcription factor neurod6 induces mitochondrial biogenesis and bioenergetics in neuronal cells

Martine Uittenbogaard, Kristin Baxter, Anne Chiaramello

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 63 KB

english, 2012

20

Implementation of next generation sequencing for clinical molecular diagnosis of mitochondrial disorders

Victor Wei Zhang, Hong Cui, Lee-Jun Wong

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 75 KB

english, 2012

21

Phase 3 trial of coenzyme Q10 in children with mitochondrial diseases

Peter W. Stacpoole

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 55 KB

english, 2012

22

Phase 3 trial of dichloroacetate for pyruvate dehydrogenase complex deficiency

Peter W. Stacpoole

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 74 KB

english, 2012

23

Long-term safety of dichloroacetate in congenital lactic acidosis

Monica Abdelmalak, Alicia Lew, Ryan Ramezani, Albert L. Shroads, Bonnie S. Coats, Meena N. Shankar, Peter W. Stacpoole

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 60 KB

english, 2012

24

Improved redox status after liver transplantation in a patient with MMA mut0 subtype; functional evidence for EPI-743 therapy

Anna-Kaisa Niemi, Tereza Moore, Tina Cowan, Viktoria Kheifets, Gregory M. Enns

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 60 KB

english, 2012

25

Tempol as a potential protective agent for nucleoside reverse transcriptase inhibitor (NRTI)-induced mitochondrial toxicity

Yongmin Liu, Phuonggiang Nguyen, Alexander Gibbons, James B. Mitchell, Miriam C. Poirier

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 76 KB

english, 2012

26

Children with mitochondrial disease and autism have alterations in pathways involved in response to endogenous and exogenous stressors

Richard E. Frye, Shannon Rose, S. Jill James

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 56 KB

english, 2012

27

A mouse model with a missense mutation in ND6 for pre-Leber's hereditary optic neuropathy

Chun Shi Lin, Mark Sharpley, Megan McManus, Eric Sung, Billy Phan, Fred Ross-Cisneros, Peter Baciu, Valerio Carelli, Alfredo Sadun, Douglas Wallace

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 56 KB

english, 2012

28

Novel phenotype associated with OPA1 mutations?

Markéta Tesařová, Viktor Stránecký, Hana Kratochvílová, Zuzana Hájková, Jana Sládková, Jana Spáčilová, Hana Hansíková, Tomáš Honzík, Hana Hartmannová, Lenka Nosková, Lenka Piherová, Emilie Lalonde, Ja

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 58 KB

english, 2012

29

Topology of TMEM70 in the inner mitochondrial membrane

Hana Kratochvilova, Marketa Tesarova, Tomas Mracek, Katerina Hejzlarova, Hana Hansikova, Josef Houstek, Jiri Zeman

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 58 KB

english, 2012

30

Mitochondrial gene therapy improves respiration and biogenesis in mitochondrial diseases of children and adults

Shilpa Iyer, Raj R. Rao, Erich Gnaiger, James P. Bennett Jr.

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 72 KB

english, 2012

31

First tier molecular diagnosis of mitochondrial disorders — The experience of a mitochondrial diagnostic laboratory pre‐NextGen era

Sha Tang, Jing Wang, Fangyuan Li, Victor Wei Zhang, Megan Landsverk, Hong Cui, Cavatina K. Truong, Guoli Wang, Eric S. Schmitt, William J. Craigen, Lee-Jun C. Wong

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 56 KB

english, 2012

32

The molecular etiology of Progressive External Ophthalmoplegia (PEO) associated with mitochondrial myopathy

Sha Tang, Yu-Wen Huang, Margherita Milone, Xia Tian, Hong Cui, Victor Wei Zhang, Jing Wang, Lee-Jun C. Wong

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 72 KB

english, 2012

33

PDHA1 mutations and continued clinical and genetic heterogeneity: Are there gender differences?

Sha Tang, Lisa Emrick, Inn-Chi Lee, Guoli Wang, Fangyuan Li, Shao-Wen Weng, William J. Craigen, Lee-Jun C. Wong

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 59 KB

english, 2012

34

Functional analysis of astrocytes in a complex I deficient mouse model

Matthew Bird, Ann Frazier, Adrienne Laskowski, David Thorburn

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 59 KB

english, 2012

35

Thymidine kinase 2 deficiency-induced mtDNA depletion in liver leads to defect β-oxidation and insufficient supply of ketone bodies and glucose for brain function

Sophie Curbo, Xiaoshan ZhouI, Kristina Kannisto, Ulrika von Döbeln, Kjell Hultenby, Sindra Isetun, Mats Gåfvels, Anna Karlsson

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 76 KB

english, 2012

36

The residual deoxycytidine phosphorylating activity of thymidine kinase 2 may determine differences in clinical manifestations of thymidine kinase 2 deficiency

Marjan Amiri, Nicola Solaroli, Anna Karlsson

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 60 KB

english, 2012

37

Increased susceptibility to reactive oxygen species in autism lymphoblastoid cells is mediated by mitochondrial dysfunction

Shannon Rose, Stepan Melnyk, Richard E. Frye, S. Jill James

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 60 KB

english, 2012

38

Two novel RRM2B gene mutations in a patient with autosomal recessive progressive external ophthalmoplegia, encephalopathy and cytochrome c oxidase deficiency

Natalie S. Hauser, Renkui Bai

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 75 KB

english, 2012

39

Baseline PBMC OXPHOS enzymes can predict fat changes at 24 or 72 weeks in Thai subjects initiated on HAART

Jody K. Takemoto, Julia Choi, Cecilia M. Shikuma, Jintanat Ananworanich, Kara Bennett, Pairoa Praihirunkit, Piranun Hongchookiat, Pornpen Mathajittiphun, Daniel E. LiButti, Victor DeGruttola, Nittaya

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 59 KB

english, 2012

40

Diagnosis and treatment of secondary mitochondrial disease

Dmitriy M. Niyazov, Diane Africk

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 72 KB

english, 2012

41

Functional comparison of mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells

Edith E. Mueller, Susanne M. Brunner, Johannes A. Mayr, Olaf Stanger, Wolfgang Sperl, Barbara Kofler

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 57 KB

english, 2012

42

Alterations of the aerobic mitochondrial energy metabolism in brain tumors

René G. Feichtinger, Serge Weis, Johannes A. Mayr, Franz A. Zimmermann, Reinhard Geilberger, Wolfgang Sperl, Barbara Kofler

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 57 KB

english, 2012

43

No evidence of cognitive decline among carrier relatives of MELAS patients

Veronica J. Hinton, K. Engelstad, S. DiMauro, D. De Vivo

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 55 KB

english, 2012

44

Mitochondrial DNA damage contributes to premature aging through p53-dependent response mechanisms

Alicia M. Pickrell, Xiao Wang, Milena Pinto, Sandra R. Bacman, Aixin Yu, Aline Hida, Lloye M. Dillon, Paul D. Morton, Thomas R. Malek, Siôn L. Williams, Carlos T. Moraes

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 78 KB

english, 2012

45

Triheptanoin therapy for inherited disorders of fatty acid oxidation

Amy Goldstein, Amanda R. Barone, Stephanie J. DeWard, Nicole Payne, Jerry Vockley

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 65 KB

english, 2012

46

Towards a clearer picture of somatic mitochondrial DNA mutation spectrums using next generation sequencing

Siôn Williams, Alicia Pickrell, Lloye Dillon, Sandra Bacman, Deborah Mash, Stephan Zϋchner, Carlos T. Moraes

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 65 KB

english, 2012

47

Specific hypersensitivity to volatile anesthetics in a mouse lacking Ndufs4, a subunit of mitochondrial complex I

Phil G. Morgan, Albert Quintana, Richard D. Palmiter, Margaret M. Sedensky

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 76 KB

english, 2012

48

Diagnosis of diseases associated with mitochondrial DNA biosynthesis and maintenance of integrity by next generation sequencing

Hong Cui, Victor Wei Zhang, Lee-Jun Wong

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 55 KB

english, 2012

49

Clinical re-sequencing of over 410 genes to diagnose mitochondrial disorders: Results from the first 78 patients

Jeana DaRe, Valeria Vasta, John Penn, Thao Tran, Lisa Susswein, Jessica Booker, Sihoun Hahn

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 66 KB

english, 2012

50

A systematic search for mitochondrial RNA processing components

Ashley R. Wolf, Vamsi K. Mootha

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 53 KB

english, 2012

51

Identifying factors promoting Complex I assembly in mammalian cells

Rasika S. Vartak, Janice Deng, Yidong Bai

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 53 KB

english, 2012

52

Mitochondrial disorders and autism: A new avenue of research on movement

Mary Elizabeth Parker, Matthew F. Moran, John T. Foley, Michael J. Weiss

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 70 KB

english, 2012

53

In vivo localization and quantification of mitochondrial dysfunction using PET imaging of the novel voltage sensor 18F-FBnTP

Igal Madar, Yong Du, Ting Liu, Hayden Ravert, Michael Crow, Joshua Hare, Brian O'Rourak, Richard Wahl, Robert Dannals

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 59 KB

english, 2012

54

Joint effects of pinacidil and Ca2 + on succinate-energized rat heart mitochondria

Sergey M. Korotkov, Vladimir P. Nesterov, Irina V. Brailovskaya, Svetlana A. Konovalova, Victor V. Furaev

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 59 KB

english, 2012

55

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) in a Japanese child: Clinical, radiological and molecular genetic analysis

Laila Selim, Fayza Hassan, Dina Mehaney

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 71 KB

english, 2012

56

Screening of the most common mitochondrial DNA mutations among Egyptian pediatric patients with mitochondrial disorders: A one year study

Dina Mehaney, Laila Selim, Fayza Hassan

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 57 KB

english, 2012

57

Activation of mitochondrial bioenergetics by 35-kDa PGC-1α/PINK1 signaling pathway

Joungil Choi, Vera Venkatanaresh Kumar Batchu, Manfred Schubert, Rudolph J. Castellani, James W. Russell

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 76 KB

english, 2012

58

A novel mouse model for nuclear-encoded partial respiratory chain Complex I deficiency

Chul Kim, Prasanth Potluri, Daria Gout, Lisa M. Minter, Douglas C. Wallace, Nagendra Yadava

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 64 KB

english, 2012

59

OPA3, a new regulator of mitochondrial fission?

Alessandra Maresca, Claudia Zanna, Sara Vidoni, Michela Rugolo, Patrizia Amati-Bonneau, Valerio Carelli, Guy Lenaers, Cecile Delettre

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 64 KB

english, 2012

60

Re-purposing small-molecule drugs to treat the mitochondrial disease Friedreich's ataxia

Sunil Sahdeo, Mark Pook, Marek Napierala, Joe Sarsero, Gino Cortopassi

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 80 KB

english, 2012

61

Searching for genetic modifiers of Leber's hereditary optic neuropathy penetrance

Leonardo Caporali, Carla Giordano, Luisa Iommarini, Alessandra Maresca, Pio D'adamo, Solange R. Salomao, Rubens Belfort Jr., Alfredo Sadun, Valerio Carelli

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 63 KB

english, 2012

62

Phenylbutyrate therapy for pyruvate dehydrogenase deficiency

Rosa Ferriero, Eleonora Lamantea, Edoardo Nusco, Luisa Bonafè, Brendan Lee, Massimo Zeviani, Nicola Brunetti-Pierri

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 74 KB

english, 2012

63

Complementary RNA and protein profiling identifies iron as a key regulator of mitochondrial biogenesis

Jarred W. Rensvold, Shao-En Ong, Athavi Jeevananthan, Steven A. Carr, Vamsi K. Mootha, David J. Pagliarini

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 58 KB

english, 2012

64

Structural studies of Dnm1/Drp1 provide mechanistic insight into mitochondrial fission

Frances Joan D. Alvarez, Louie Zhou, Jason A. Mears

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 72 KB

english, 2012

65

Regulation of superoxide dismutase 1 in intermembrane space of mitochondria

Yutaka Suzuki, Jan Riemer

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 59 KB

english, 2012

66

A myopathy with retiform mitochondria

Hisashi Fujioka, Bernard Tandler, Laura Konczal, Mark L. Cohen, Mariana Rosca, Charles L. Hoppel

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 59 KB

english, 2012

67

Misplaced mitochondria in a human myopathy

Hisashi Fujioka, Bernard Tandler, Laura Konczal, Mark L. Cohen, Mariana Rosca, Charles L. Hoppel

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 72 KB

english, 2012

68

Diagnostic application of measuring oxidative phosphorylation in permeabilized skin fibroblasts

Fang Ye, Charles L. Hoppel

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 58 KB

english, 2012

69

Targeted exome sequencing of suspected mitochondrial disorders in a hospital-based cohort

Daniel S. Lieber, Sarah E. Calvo, Nancy G. Slate, Shangtao Liu, Mark L. Borowsky, Steven G. Hershman, Nina B. Gold, Gerard T. Berry, David M. Mueller, Jeremy D. Schmahmann, Katherine B. Sims, Vamsi K.

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 77 KB

english, 2012

70

Biogenesis of the mitochondrial respiratory chain in children with severe multiorgan disorders

Reetta Hinttala, Johanna Uusimaa, Hana Antonicka, Hannaleena Kokkonen, Jukka S. Moilanen, Heikki Rantala, Kari Majamaa, Eric A. Shoubridge

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 58 KB

english, 2012

71

Chronic treatment with the long acting phosphodiesterase-5 inhibitor, tadalafil, decreases mitochondrial damage in diabetic mice

Hema S. Aluri, Sai S. Koka, Edward J. Lesnefsky, Rakesh C. Kukreja

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 58 KB

english, 2012

72

Mitochondrial defects in Rett syndrome

W.A. Gold, S.L. Williamson, S. Kaur, J.H. Gibson, G.J. Pelka, I.P. Hargreaves, J.M. Land, P.P.L. Tam, J. Christodoulou

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 78 KB

english, 2012

73

Global metabolic profiling reveals metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Laura Strittmatter, Valerio Leoni, Giovanna Zorzi, Federica Zibordi, Sabrina Dusi, Barbara Garavaglia, Paola Venco, Claudio Caccia, Amanda L. Souza, Amy Deik, Clary B. Clish, Marco Rimoldi, Emilio Ciu

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 61 KB

english, 2012

74

Characterization of a Chinese hamster mutant cell line with a complete defect in mitochondrial protein synthesis

Prasanth Potluri, Immo E. Scheffler, Douglas C. Wallace

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 86 KB

english, 2012

75

An evolving bioinformatics tool reveals mitochondrial pathology in diseases and aging

Morten Scheibye-Knudsen, Karsten Scheibye-Alsing, Chandrika Canugovi, Deborah L. Croteau, Vilhelm A. Bohr

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 66 KB

english, 2012

76

The maternal mtDNA mutation load heavily influences phenotypes in mtDNA mutator mice

James B. Stewart, Christoph Freyer, Arnaud Mourier, Erik Hagstrom, Marie Lagouge, Anna Wredenberg, Nils-Göran Larsson

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 66 KB

english, 2012

77

Gene regulation of cytochrome C oxidase subunit 4 isoform 2: A tale of three factors

Lawrence Grossman, Siddhesh Aras, Pak Oleg, Natascha Sommer, Maik Hüttemann, Norbert Weissmann

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 83 KB

english, 2012

78

Mitochondrial fission–fusion activities regulate cell fate determination between proliferation and differentiation: A possible link to tumorigenesis

Kasturi Mitra, Richa Rikhy, Mary Lilly, Jennifer Lippincott-Schwartz, David Chess, Bob Balaban

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 59 KB

english, 2012

79

Development of stem cell-based models for neuro-mitochondrial disorders

Raj R. Rao, Shilpa Iyer

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 58 KB

english, 2012

80

Inactivation of the Drosophila TSPO inhibits the mPTP, increases longevity, alters heme metabolism and modulates mitochondrial bioenergetics

Ran Lin, Alessia Angelin, Douglas C. Wallace

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 62 KB

english, 2012

81

The future is now: Oocyte plasmic exchange for aged oocytes

Atsushi Tanaka, Izumi Tanaka, Motoi Nagayoshi, Hiroshi Kusunoki, Seiji Watanabe

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 62 KB

english, 2012

82

Rapid genetic diagnosis and pyruvate therapy for mitochondrial diseases

Masashi Tanaka, Kumpei Tanisawa, Eri Mikami, Noriyuki Fuku, Yutaka Nishigaki, Yasutoshi Koga, Akira Ohkake, Yasushi Okazaki, Kei Murayama

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 80 KB

english, 2012

83

EPI-743: Preliminary report on Italian experience in open label study of three patients with acute Leber's hereditary optic neuropathy

Valerio Carelli, Piero Barboni, Leonardo Caporali, Alessandra Maresca, Guy Miller, Maria Lucia Valentino

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 61 KB

english, 2012

84

Contractile and mitochondrial dysfunction in heart trabeculae from diabetic rats

Niraj Bhatt, Miguel A. Aon, Xiaoxu Shen, Brian O'Rourke, Weidong Gao, Sonia Cortassa

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 61 KB

english, 2012

85

Epigenetic memory in the mitochondria of human embryonic stem cells

Antonio Davila Jr., Douglas C. Wallace

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 75 KB

english, 2012

86

Blockade of electron transport before ischemia provides an additive protection in bcl-2 overexpressor mice following prolonged ischemia–reperfusion

Aijun Xu, Karo Szczepanek, Ying Hu, Qun Chen, Edward J. Lesnefsky

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Année:

2012

Langue:

english

Fichier:

PDF, 61 KB

english, 2012

87

Partial inhibition of complex I does not prevent reverse flow-induced ROS generation

Thomas Ross, Karol Szczepanek, Ying Hu, Qun Chen, Edward J. Lesnefsky

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Année:

2012

Langue:

english

Fichier:

PDF, 85 KB

english, 2012

88

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Steven G. Hershman, Elena J. Tucker, Caroline Köhrer, Casey A. Belcher-Timme, Jinal Patel, Olga A. Goldberger, John Christodoulou, Jonathon M. Silberstein, Matthew McKenzie, Michael T. Ryan, Alison G.

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 70 KB

english, 2012

89

A systems biology approach to mitochondrial disease in C. elegans

Margaret M. Sedensky, Marni J. Falk, Eugene Kolker, Roger Higdon, Chris Newgard, Phil G. Morgan

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Année:

2012

Langue:

english

Fichier:

PDF, 85 KB

english, 2012

90

Leber Hereditary Optic Neuropathy (LHON) associated mutation 3394 is also a high-altitude adaptive polymorphism

Leonardo S. Alves, Fuyun Ji, Mark S. Sharpley, Olga Derbeneva, Dimitra Chalkia, Maria Lvova, Guisheng Qian, Lorna G. Moore, Douglas C. Wallace

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 57 KB

english, 2012

91

Identification of a novel TTC19 mutation in a Portuguese family with complex III deficiency

Célia Nogueira, José Barros, Maria José Sá, Luísa Azevedo, Filippo M. Santorelli, Laura Vilarinho

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 69 KB

english, 2012

92

“Double-trouble” or digenic disorder in complex I deficiency

Lígia S. Almeida, Mariana Ferreira, Célia Nogueira, Fátima Furtado, Teresinha Evangelista, Filippo M. Santorelli, Laura Vilarinho

Journal:

Année:

2012

Langue:

english

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PDF, 54 KB

english, 2012

93

Metabolic adaptations in neurons with complex IV deficiency

Francisca Diaz, Sofia Garcia, Carlos T. Moraes

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 53 KB

english, 2012

94

NextGen Sequencing of the complete mtDNA genome: 20% estimated positive cases among recent 117 patients

Carolyn H. Buzin, Christian Neckelmann, Melissa Gasper, Juliana O. Barba, William A. Scaringe, Steve S. Sommer

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 69 KB

english, 2012

95

Absence of malonyl-CoA decarboxylase (MCD) impacts endurance exercise capacity and reprograms skeletal muscle mitochondrial metabolism

Tim Koves, Sarah Seiler, Karen DeBalsi, April Whitman, Deborah Muoio

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 57 KB

english, 2012

96

MitoNuc2Dx — Analyzing the mitochondrial genes encoded in the nuclear genome to assess their possible association with mitochondrial disorders

Steve S. Sommer, Harris S. Soifer, Shogher Nalbandian, Krishna S. Morampudi, William A. Scaringe, Nicolas Nekelmann, Juliana O. Barba

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 67 KB

english, 2012

97

Exome sequencing and functional biology reveal novel mitochondrial disease genes

Penelope E. Bonnen, Arnaud Besse, Tarak Donti, Adithya Raghavan, Seema Lalani, Fernando Scaglia, William J. Craigen, Brett H. Graham

Journal:

Année:

2012

Langue:

english

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PDF, 52 KB

english, 2012

98

Two-dimensional intact mitochondrial DNA agarose electrophoresis demonstrates the complexity of mtDNA structural forms and in vivo supercoiling by TFAM

Jill E. Kolesar, Catherine Y. Wang, Shih-Hsuan Chou, Brett A. Kaufman

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 52 KB

english, 2012

99

Evidence for mitochondrial adaptation to chronic glucose exposure in beta cells

Jill E. Kolesar, Yumiko V. Taguchi, Rebecca L. Cramer, Catherine Wang, Shih-Hsuan Chou, Scott A. Soleimanpour, Doris A. Stoffers, Brett A. Kaufman

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 73 KB

english, 2012

100

PCR-based target sequence enrichment and next generation sequencing of 24 nuclear genes for the diagnosis of mitochondrial disorders: Yield of 262 cases

Renkui Bai, Jaimie Higgs, Sharon Suchy, Mustafa Saifi, Melanie Knight, Federica Gibellini, Sabrina Buchholz, Sonia Benhamed, Dolores Arjona, Barbara Boggs, Craig Chinault, Yuriy Shevchenko, Nizar Smao

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 81 KB

english, 2012

101

PCR-based targeted enrichment and next-generation sequencing of 101 nuclear genes for the diagnosis of mitochondrial disorders

Renkui Bai, Jaimie Higgs, Sharon Suchy, Federica Gibellini, Melanie Knight, Sabrina Buchholz, Sonia Benhamed, Dolores Arjona, Craig Chinault, Rhonda Brandon, Nizar Smaoui, Gabriele Richard, Sherri Bal

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 59 KB

english, 2012

102

NADH fluorescence lifetime as an intrinsic biomarker of the metabolic change during osteogenic differentiation of human mesenchymal stem cells (hMSCs)

Han Wen Guo, Jia Sin Yu, Shu Han Hsu, Yau Huei Wei, Oscar K. Lee, Hsing Wen Wang

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 67 KB

english, 2012

103

Mitochondrial DNA depleted mouse B cells are defective in the response to antigen-stimulation

Hyongi Chon, Lina A. Gugliotti, Kiran Sakhuja, Mariya London, Susana M. Cerritelli, Robert J. Crouch

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 52 KB

english, 2012

104

Ablation of the gene coding for complex I subunit NDUFA5 in CNS results in a mild phenotype

S. Peralta, A. Torraco, T. Wenz, C.T. Moraes

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 52 KB

english, 2012

105

Multiple mitochondrial electron transport chain enzyme deficiencies associated with a decrease in skeletal muscle coenzyme Q10 status

Iain Hargreaves, John Land

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 54 KB

english, 2012

106

Identification of a Nfs1p-bound persulfide intermediate in Fe–S cluster synthesis by intact mitochondria

Alok Pandey, Heeyong Yoon, Elise R. Lyver, Andrew Dancis, Debkumar Pain

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 1009 KB

english, 2012

107

Repeated regions in mitochondrial genomes: Distribution, origin and evolutionary significance

Francesco Nardi, Antonio Carapelli, Francesco Frati

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 754 KB

english, 2012

108

Molecular base of biochemical complex I deficiency

Saskia J.G. Hoefs, Richard J. Rodenburg, Jan A.M. Smeitink, Lambert P. van den Heuvel

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 742 KB

english, 2012

109

Segregation of donor cell mitochondrial DNA in gaur–bovine interspecies somatic cell nuclear transfer embryos, fetuses and an offspring

Sumeth Imsoonthornruksa, Kanokwan Srirattana, Wanwisa Phewsoi, Wanchai Tunwattana, Rangsun Parnpai, Mariena Ketudat-Cairns

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 1.13 MB

english, 2012

110

Mitogenomic analysis of the genus Pseudois: Evidence of adaptive evolution of morphological variation in the ATP synthase genes

Peng, Quekun, Tang, Lei, Tan, Shuai, Li, Zhigang, Wang, Jifei, Zou, Fangdong

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 362 KB

english, 2012