CoChat
Sign Up
Cited by 568Mitochondrial Function and PathologyAutophagy in Disease and TherapyParkinson's Disease Mechanisms and Treatments

Mitochondria: The Next (Neurode)Generation

Open access
Schon, Eric A., Przedborski, Serge·2011·Neuron
DOI 10.1016/j.neuron.2011.06.003PMC PMC3407575
Open this paper in CoChat — free accountOpen PDF

Abstract

Adult-onset neurodegenerative disorders are disabling and often fatal diseases of the nervous system whose underlying mechanisms of cell death remain unknown. Defects in mitochondrial respiration had previously been proposed to contribute to the occurrence of many, if not all, of the most common neurodegenerative disorders. However, the discovery of genes mutated in hereditary forms of these enigmatic diseases has additionally suggested defects in mitochondrial dynamics. Such disturbances can lead to changes in mitochondrial trafficking, in interorganellar communication, and in mitochondrial quality control. These new mechanisms by which mitochondria may also be linked to neurodegeneration will likely have far-reaching implications for our understanding of the pathophysiology and treatment of adult-onset neurodegenerative disorders.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1016/j.neuron.2011.06.003

Cites

9 of 9 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • 5xFAD-Dp16 exhibited greatly decreased NES for several gene sets, including DNA repair, Myc targets V1, and oxidative phosphorylation.

    “Conversely, 5xFAD-Dp16 also exhibited greatly decreased NES for several gene sets, including DNA repair, Myc targets V1, and oxidative phosphorylation, all of which are linked to cellular damage or stress facilitating the progression of the pathogenesis and contributing to neurodegeneration in AD48,49,50 (Figures 3A and S3A).”

    From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [50]

    The paper’s section on mitochondrial–ER communication describes defects in energy metabolism and ER stress in Alzheimer’s disease, but says their causal relationship remains undetermined. Its Concluding Remarks also discuss impaired oxidative phosphorylation in neurodegeneration. It does not report NES results for 5xFAD-Dp16 or link DNA repair and Myc targets V1 to Alzheimer’s disease; the cited background therefore supports only part of the sentence. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

  • DNA repair, Myc targets V1, and oxidative phosphorylation gene sets are linked to cellular damage or stress facilitating the progression of pathogenesis and contributing to neurodegeneration in AD.

    “Conversely, 5xFAD-Dp16 also exhibited greatly decreased NES for several gene sets, including DNA repair, Myc targets V1, and oxidative phosphorylation, all of which are linked to cellular damage or stress facilitating the progression of the pathogenesis and contributing to neurodegeneration in AD48,49,50 (Figures 3A and S3A).”

    From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [50]

    The mitochondrial–ER communication section identifies defects in energy metabolism and ER stress as features of AD, but says their causal links remain uncertain. The concluding remarks discuss impaired oxidative phosphorylation as a possible consequence in neurodegeneration, not an established cause. Our copy does not link the DNA repair or Myc targets V1 gene sets to AD pathogenesis. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

  • Alterations in the integrity of mitochondria-ER-associated membranes have been linked to processes underlying dementia.

    “Alterations in the integrity of MAM have been linked to processes underlying dementia [47–49].”

    From Neuronal Apolipoprotein E4 Expression Results in Proteome-Wide Alterations and Compromises Bioenergetic Capacity by Disrupting Mitochondrial Function (2019) · cites this paper as [49]

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Research works printed but not linked: 147

  1. Anborgh PH Godin C Pampillo M Dhami GK Dale LB Cregan SP Truant R Ferguson SS Inhibition of metabotropic glutamate receptor signaling by the huntingtin-binding protein optineurin J. Biol. Chem 2005 280 34840 34848 16091361
  2. Andres-Mateos E Perier C Zhang L Blanchard-Fillion B Greco TM Thomas B Ko HS Sasaki M Ischiropoulos H Przedborski S DJ-1 gene deletion reveals that DJ-1 is an atypical peroxiredoxin-like peroxidase Proc. Natl. Acad. Sci. USA 2007 104 14807 14812 17766438 PMC1976193
  3. Area-Gomez E de Groof AJ Boldogh I Bird TD Gibson GE Koehler CM Yu WH Duff KE Yaffe MP Pon LA Schon EA Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria Am. J. Pathol 2009 175 1810 1816 19834068 PMC2774047
  4. Atorino L Silvestri L Koppen M Cassina L Ballabio A Marconi R Langer T Casari G Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia J. Cell Biol 2003 163 777 787 14623864 PMC2173682
  5. Baloh RH Schmidt RE Pestronk A Milbrandt J Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations J. Neurosci 2007 27 422 430 17215403 PMC6672077
  6. Bender A Krishnan KJ Morris CM Taylor GA Reeve AK Perry RH Jaros E Hersheson JS Betts J Klopstock T High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease Nat. Genet 2006 38 515 517 16604074
  7. Bian X Klemm RW Liu TY Zhang M Sun S Sui X Liu X Rapoport TA Hu J Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes Proc. Natl. Acad. Sci. USA 2011 108 3976 3981 21368113 PMC3054032
  8. Bosco DA Morfini G Karabacak NM Song Y Gros-Louis F Pasinelli P Goolsby H Fontaine BA Lemay N McKenna-Yasek D Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS Nat. Neurosci 2010 13 1396 1403 20953194 PMC2967729
  9. Bossy-Wetzel E Petrilli A Knott AB Mutant huntingtin and mitochondrial dysfunction Trends Neurosci 2008 31 609 616 18951640 PMC2613540
  10. Braschi E Goyon V Zunino R Mohanty A Xu L McBride HM Vps35 mediates vesicle transport between the mitochondria and peroxisomes Curr. Biol 2010 20 1310 1315 20619655
  11. Braschi E McBride HM Mitochondria and the culture of the Borg: understanding the integration of mitochondrial function within the reticulum, the cell, and the organism Bioessays 2010 32 985 966 PMC3034045 20824657
  12. Brickley K Smith MJ Beck M Stephenson FA GRIF-1 and OIP106, members of a novel gene family of coiled-coil domain proteins: association in vivo and in vitro with kinesin J. Biol. Chem 2005 280 14723 14732 15644324
  13. Brownlees J Ackerley S Grierson AJ Jacobsen NJ Shea K Anderton BH Leigh PN Shaw CE Miller CC Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport Hum. Mol. Genet 2002 11 2837 2844 12393795
  14. Casari G De Fusco M Ciarmatori S Zeviani M Mora M Fernandez P De Michele G Filla A Cocozza S Marconi R Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease Cell 1998 93 973 983 9635427
  15. Chang DT Rintoul GL Pandipati S Reynolds IJ Mutant huntingtin aggregates impair mitochondrial movement and trafficking in cortical neurons Neurobiol. Dis 2006 22 388 400 16473015
  16. Chen H Chan DC Mitochondrial dynamics - fusion, fission, movement, and mitophagy -in neurodegenerative diseases Hum. Mol. Genet 2009 18 R169 R176 19808793 PMC2758711
  17. Chen YZ Bennett CL Huynh HM Blair IP Puls I Irobi J Dierick I Abel A Kennerson ML Rabin BA DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) Am. J. Hum. Genet 2004 74 1128 1135 15106121 PMC1182077
  18. Cho DH Nakamura T Fang J Cieplak P Godzik A Gu Z Lipton SA S-nitrosylation of Drp1 mediates β-amyloid-related mitochondrial fission and neuronal injury Science 2009 324 102 105 19342591 PMC2823371
  19. Clark IE Dodson MW Jiang C Cao JH Huh JR Seol JH Yoo SJ Hay BA Guo M Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin Nature 2006 441 1162 1166 16672981
  20. Costa V Giacomello M Hudec R Lopreiato R Ermak G Lim D Malorni W Davies KJ Carafoli E Scorrano L Mitochondrial fission and cristae disruption increase the response of cell models of Huntington’s disease to apoptotic stimuli EMBO Mol. Med 2010 2 490 503 21069748 PMC3044888
  21. Csordas G Renken C Varnai P Walter L Weaver D Buttle KF Balla T Mannella CA Hajnoczky G Structural and functional features and significance of the physical linkage between ER and mitochondria J. Cell Biol 2006 174 915 921 16982799 PMC2064383
  22. Csordas G Varnai P Golenar T Roy S Purkins G Schneider TG Balla T Hajnoczky G Imaging interorganelle contacts and local calcium dynamics at the ER-mitochondrial interface Mol. Cell 2010 39 121 132 20603080 PMC3178184
  23. Dagda RK Merrill RA Cribbs JT Chen Y Hell JW Usachev YM Strack S The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bβ2 antagonizes neuronal survival by promoting mitochondrial fission J. Biol. Chem 2008a 283 36241 36248 18940801 PMC2605997
  24. Dagda RK Zhu J Kulich SM Chu CT Mitochondrially localized ERK2 regulates mitophagy and autophagic cell stress: implications for Parkinson’s disease Autophagy 2008b 4 770 782 18594198 PMC2574804
  25. Dauer W Przedborski S Parkinson’s disease: mechanisms and models Neuron 2003 39 889 909 12971891
  26. de Brito OM Scorrano L Mitofusin 2 tethers endoplasmic reticulum to mitochondria Nature 2008 456 605 610 19052620
  27. De Coo IF Renier WO Ruitenbeek W Ter Laak HJ Bakker M Schägger H Van Oost BA Smeets HJ A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrom Ann. Neurol 1999 45 130 133 9894888
  28. De Vos KJ Chapman AL Tennant ME Manser C Tudor EL Lau KF Brownlees J Ackerley S Shaw PJ McLoughlin DM Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content Hum. Mol. Genet 2007 16 2720 2728 17725983 PMC4516806
  29. Deas E Plun-Favreau H Gandhi S Desmond H Kjaer S Loh SH Renton AE Harvey RJ Whitworth AJ Martins LM PINK1 cleavage at position A103 by the mitochondrial protease PARL Hum. Mol. Genet 2011 20 867 879 21138942 PMC3033179
  30. Deng X Ruvolo P Carr B May WS Jr. Survival function of ERK1/2 as IL-3-activated, staurosporine-resistant Bcl2 kinases Proc. Natl. Acad. Sci. USA 2000 97 1578 1583 10677502 PMC26477
  31. Di Bella D Lazzaro F Brusco A Plumari M Battaglia G Pastore A Finardi A Cagnoli C Tempia F Frontali M Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 Nat. Genet 2010 42 313 321 20208537
  32. DiMauro S Schon EA Mitochondrial respiratory-chain diseases New Engl. J. Med 2003 348 2656 2668 12826641
  33. Duvezin-Caubet S Koppen M Wagener J Zick M Israel L Bernacchia A Jagasia R Rugarli EI Imhof A Neupert W OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria Mol. Biol. Cell 2007 18 3582 3590 17615298 PMC1951777
  34. Ebbing B Mann K Starosta A Jaud J Schols L Schule R Woehlke G Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity Hum. Mol. Genet 2008 17 1245 1252 18203753
  35. Elden AC Kim HJ Hart MP Chen-Plotkin AS Johnson BS Fang X Armakola M Geser F Greene R Lu MM Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS Nature 2010 466 1069 1075 20740007 PMC2965417
  36. Fernandez-Vizarra E Tiranti V Zeviani M Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects Biochim. Biophys. Acta 2009 1793 200 211 18620006
  37. Ferreira IL Resende R Ferreiro E Rego AC Pereira CF Multiple defects in energy metabolism in Alzheimer’s disease Curr. Drug Targets 2010 11 1193 1206 20840064
  38. Fransson A Ruusala A Aspenstrom P Atypical Rho GTPases have roles in mitochondrial homeostasis and apoptosis J. Biol. Chem 2003 278 6495 6502 12482879
  39. Fuse N Genetic bases for glaucoma Tohoku J. Exp. Med 2010 221 1 10 20431268
  40. Galli S Jahn O Hitt R Hesse D Opitz L Plessmann U Urlaub H Poderoso JJ Jares-Erijman EA Jovin TM A new paradigm for MAPK: structural interactions of hERK1 with mitochondria in HeLa cells PLoS One 2009 4 e7541 19847302 PMC2760858
  41. Gegg ME Cooper JM Chau KY Rojo M Schapira AH Taanman JW Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy Hum. Mol. genet 2010 19 4861 4870 20871098 PMC3583518
  42. Gerards M van den Bosch B Calis C Schoonderwoerd K van Engelen K Tijssen M de Coo R van der Kooi A Smeets H Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy Mitochondrion 2010 10 510 515 20580948
  43. Gilkerson RW Schon EA Hernandez E Davidson MM Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation J. Cell Biol 2008 181 1117 1128 18573913 PMC2442202
  44. Gillardon F Leucine-rich repeat kinase 2 phosphorylates brain tubulin-beta isoforms and modulates microtubule stability - a point of convergence in parkinsonian neurodegeneration? J. Neurochem 2009 110 1514 1522 19545277
  45. Giorgi C Ito K Lin HK Santangelo C Wieckowski MR Lebiedzinska M Bononi A Bonora M Duszynski J Bernardi R PML regulates apoptosis at endoplasmic reticulum by modulating calcium release Science 2010 330 1247 1251 21030605 PMC3017677
  46. Glater EE Megeath LJ Stowers RS Schwarz TL Axonal transport of mitochondria requires milton to recruit kinesin heavy chain and is light chain independent J. Cell Biol 2006 173 545 557 16717129 PMC2063864
  47. Guo X Macleod GT Wellington A Hu F Panchumarthi S Schoenfield M Marin L Charlton MP Atwood HL Zinsmaier KE The GTPase dMiro is required for axonal transport of mitochondria to Drosophila synapses Neuron 2005 47 379 393 16055062
  48. Gutekunst CA Li SH Yi H Ferrante RJ Li XJ Hersch SM The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): comparison with huntingtin in rat and human J, Neurosci 1998 18 7674 7686 9742138 PMC6793025
  49. Guzman JN Sanchez-Padilla J Wokosin D Kondapalli J Ilijic E Schumacker PT Surmeier DJ Oxidant stress evoked by pacemaking in dopaminergic neurons is attenuated by DJ-1 Nature 2010 468 696 700 21068725 PMC4465557
  50. Hailey DW Rambold AS Satpute-Krishnan P Mitra K Sougrat R Kim PK Lippincott-Schwartz J Mitochondria supply membranes for autophagosome biogenesis during starvation Cell 2010 141 656 667 20478256 PMC3059894
  51. Hakonen AH Goffart S Marjavaara S Paetau A Cooper H Mattila K Lampinen M Sajantila A Lönnqvist T Spelbrink JN Suomalainen A Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion Hum. Mol. Genet 2008 17 3822 3835 18775955
  52. Hattula K Peränen J FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis Curr. Biol 2000 10 1603 1606 11137014
  53. Hayashi T Ishimori C Takahashi-Niki K Taira T Kim YC Maita H Maita C Ariga H Iguchi-Ariga SM DJ-1 binds to mitochondrial complex I and maintains its activity Biochem. Biophys. Res. Commun 2009a 390 667 672 19822128
  54. Hayashi T Rizzuto R Hajnoczky G Su TP MAM: more than just a housekeeper Trends Cell Biol 2009b 19 81 88 19144519 PMC2750097
  55. Heo JM Livnat-Levanon N Taylor EB Jones KT Dephoure N Ring J Xie J Brodsky JL Madeo F Gygi SP A stress-responsive system for mitochondrial protein degradation Mol. Cell 2010 40 465 480 21070972 PMC2998070
  56. Higashi S Iseki E Minegishi M Togo T Kabuta T Wada K GIGYF2 is present in endosomal compartments in the mammalian brains and enhances IGF-1-induced ERK1/2 activation J. Neurochem 2010 115 423 437 20670374
  57. Hollenbeck PJ The pattern and mechanism of mitochondrial transport in axons Front. Biosci 1996 1 d91 d102 9159217
  58. Hooper C Puttamadappa SS Loring Z Shekhtman A Bakowska JC Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets BMC Biol 2010 8 72 20504295 PMC2887783
  59. Hoozemans JJ Veerhuis R Van Haastert ES Rozemuller JM Baas F Eikelenboom P Scheper W The unfolded protein response is activated in Alzheimer’s disease Acta Neuropathol 2005 110 165 172 15973543
  60. Huizing M Dorward H Ly L Klootwijk E Kleta R Skovby F Pei W Feldman B Gahl WA Anikster Y OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria Mol. Genet. Metab 2010 100 149 154 20350831 PMC2872056
  61. Irrcher I Aleyasin H Seifert EL Hewitt SJ Chhabra S Phillips M Lutz AK Rousseaux MW Bevilacqua L Jahani-Asl A Loss of the Parkinson’s disease-linked gene DJ-1 perturbs mitochondrial dynamics Hum. Mol. Genet 2010 19 3734 3746 20639397
  62. Iwasawa R Mahul-Mellier AL Datler C Pazarentzos E Grimm S Fis1 and Bap31 bridge the mitochondria-ER interface to establish a platform for apoptosis induction EMBO J 2011 30 556 568 21183955 PMC3034017
  63. Jin SM Lazarou M Wang C Kane LA Narendra DP Youle RJ Mitochondrial membrane potential regulates PINK1 import and proteolytic destabilization by PARL J. Cell Biol 2010 191 933 942 21115803 PMC2995166
  64. John GB Shang Y Li L Renken C Mannella CA Selker JM Rangell L Bennett MJ Zha J The mitochondrial inner membrane protein mitofilin controls cristae morphology Mol. Biol. Cell 2005 16 1543 1554 15647377 PMC551514
  65. Johnson JO Mandrioli J Benatar M Abramzon Y Van Deerlin VM Trojanowski JQ Gibbs JR Brunetti M Gronka S Wuu J Exome sequencing reveals VCP mutations as a cause of familial ALS Neuron 2010 68 857 864 21145000 PMC3032425
  66. Jung C Chylinski TM Pimenta A Ortiz D Shea TB Neurofilament transport is dependent on actin and myosin J. Neurosci 2004 24 9486 9496 15509735 PMC6730143
  67. Kamp F Exner N Lutz AK Wender N Hegermann J Brunner B Nuscher B Bartels T Giese A Beyer K Inhibition of mitochondrial fusion by alpha-synuclein is rescued by PINK1, Parkin and DJ-1 EMBO J 2010 29 3571 3589 20842103 PMC2964170
  68. Kasher PR De Vos KJ Wharton SB Manser C Bennett EJ Bingley M Wood JD Milner R McDermott CJ Miller CC Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients J. Neurochem 2009 110 34 44 19453301
  69. Kelleher JF Mandell MA Moulder G Hill KL L’Hernault SW Barstead R Titus MA Myosin VI is required for asymmetric segregation of cellular components during C. elegans spermatogenesis Curr. Biol 2000 10 1489 1496 11114515
  70. Kim J Moody JP Edgerly CK Bordiuk OL Cormier K Smith K Beal MF Ferrante RJ Mitochondrial loss, dysfunction and altered dynamics in Huntington’s disease Hum. Mol. Genet 2010 19 3919 3935 20660112 PMC2947400
  71. Kitada T Tong Y Gautier CA Shen J Absence of nigral degeneration in aged parkin/DJ-1/PINK1 triple knockout mice J. Neurochem 2009 111 696 702 19694908 PMC2952933
  72. Koutsopoulos OS Laine D Osellame L Chudakov DM Parton RG Frazier AE Ryan MT Human Miltons associate with mitochondria and induce microtubule-dependent remodeling of mitochondrial networks Biochim. Biophys. Acta 2010 1803 564 574 20230862
  73. Kraytsberg Y Kudryavtseva E McKee AC Geula C Kowall NW Khrapko K Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons Nat. Genet 2006 38 518 520 16604072
  74. Lee HJ Khoshaghideh F Lee S Lee SJ Impairment of microtubule-dependent trafficking by overexpression of α-synuclein Eur. J. Neurosci 2006 24 3153 3162 17156376
  75. Lei X Zhang S Bohrer A Ramanadham S Calcium-independent phospholipase A2 (iPLA2β)-mediated ceramide generation plays a key role in the cross-talk between the endoplasmic reticulum (ER) and mitochondria during ER stress-induced insulin-secreting cell apoptosis J. Biol. Chem 2008 283 34819 34832 18936091 PMC2596401
  76. Liu X Hajnóczky G Ca2+-dependent regulation of mitochondrial dynamics by the Miro-Milton complex Int. J. Biochem. Cell Biol 2009 41 1972 1976 19481172 PMC2742205
  77. Lu J Rashid F Byrne PC The hereditary spastic paraplegia protein spartin localises to mitochondria J. Neurochem 2006 98 1908 1919 16945107
  78. Malagelada C Jin ZH Jackson-Lewis V Przedborski S Greene LA Rapamycin protects against neuron death in in vitro and in vivo models of Parkinson’s disease J. Neurosci 2010 30 1166 1175 20089925 PMC2880868
  79. Maruyama H Morino H Ito H Izumi Y Kato H Watanabe Y Kinoshita Y Kamada M Nodera H Suzuki H Mutations of optineurin in amyotrophic lateral sclerosis Nature 2010 465 223 226 20428114
  80. McDermott CJ Grierson AJ Wood JD Bingley M Wharton SB Bushby KM Shaw PJ Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation Ann. Neurol 2003 54 748 759 14681884
  81. Milewska M McRedmond J Byrne PC Identification of novel spartin-interactors shows spartin is a multifunctional protein J. Neurochem 2009 111 1022 1030 19765186
  82. Millecamps S Gentil BJ Gros-Louis F Rouleau G Julien JP Alsin is partially associated with centrosome in human cells Biochim. Biophys. Acta 2005 1745 84 100 16085057
  83. Misko A Jiang S Wegorzewska I Milbrandt J Baloh RH Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex J. Neurosci 2010 30 4232 4240 20335458 PMC2852190
  84. Moore DJ Zhang L Troncoso J Lee MK Hattori N Mizuno Y Dawson TM Dawson VL Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress Hum. Mol. Genet 2005 14 71 84 15525661
  85. Moreira MC Klur S Watanabe M Németh AH Le Ber I Moniz JC Tranchant C Aubourg P Tazir M Schöls L Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 Nat. Genet 2004 36 225 227 14770181
  86. Munch C Sedlmeier R Meyer T Homberg V Sperfeld AD Kurt A Prudlo J Peraus G Hanemann CO Stumm G Ludolph AC Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS Neurology 2004 63 724 726 15326253
  87. Nakamura K Nemani VM Azarbal F Skibinski G Levy JM Egami K Munishkina L Zhang J Gardner B Wakabayashi J Direct membrane association drives mitochondrial fission by the Parkinson Disease-associated protein α-synuclein J. Biol. Chem 2011 in press PMC3121472 21489994
  88. Narendra D Kane LA Hauser DN Fearnley IM Youle RJ p62/SQSTM1 is required for Parkin-induced mitochondrial clustering but not mitophagy; VDAC1 is dispensable for both Autophagy 2010a 6 1090 1106 20890124 PMC3359490
  89. Niemann A Ruegg M La Padula V Schenone A Suter U Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease J. Cell Biol 2005 170 1067 1078 16172208 PMC2171517
  90. Nishioka K Vilariño-Güell C Cobb SA Kachergus JM Ross OA Hentati E Hentati F Farrer MJ Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson’s disease Parkinsonism Relat. Disord 2010 16 686 687 20971673 PMC4381965
  91. Nolden M Ehses S Koppen M Bernacchia A Rugarli EI Langer T The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria Cell 2005 123 277 289 16239145
  92. Oliveira JM Mitochondrial bioenergetics and dynamics in Huntington’s disease: tripartite synapses and selective striatal degeneration J. Bioenerg. Biomembr 2010 42 227 234 20454921
  93. Orr AL Li S Wang CE Li H Wang J Rong J Xu X Mastroberardino PG Greenamyre JT Li XJ N-terminal mutant huntingtin associates with mitochondria and impairs mitochondrial trafficking J. Neurosci 2008 28 2783 2792 18337408 PMC2652473
  94. Osman C Merkwirth C Langer T Prohibitins and the functional compartmentalization of mitochondrial membranes J. Cell Sci 2009 122 3823 3830 19889967
  95. Pandey M Mohanakumar KP Usha R Mitochondrial functional alterations in relation to pathophysiology of Huntington’s disease J. Bioenerg. Biomembr 2010 42 217 226 20464463
  96. Park SH Zhu PP Parker RL Blackstone C Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network J. Clin. Invest 2010 120 1097 1110 20200447 PMC2846052
  97. Pedrola L Espert A Wu X Claramunt R Shy ME Palau F GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria Hum. Mol. Genet 2005 14 1087 1094 15772096
  98. Pérez-Ollé R López-Toledano MA Goryunov D Cabrera-Poch N Stefanis L Brown K Liem RK Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport J. Neurochem 2005 93 861 874 15857389
  99. Puglielli L Konopka G Pack-Chung E Ingano LA Berezovska O Hyman BT Chang TY Tanzi RE Kovacs DM Acyl-coenzyme A:cholesterol acyltransferase modulates the generation of the amyloid β-peptide Nat. Cell Biol 2001 3 905 912 11584272
  100. Puigserver P Wu Z Park CW Graves R Wright M Spiegelman BM A cold-inducible coactivator of nuclear receptors linked to adaptive thermogenesis Cell 1998 92 829 839 9529258
  101. Pulst SM Nechiporuk A Nechiporuk T Gispert S Chen XN Lopes-Cendes I Pearlman S Starkman S Orozco-Diaz G Lunkes A Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 Nat. Genet 1996 14 269 276 8896555
  102. Rice SE Gelfand VI Paradigm lost: milton connects kinesin heavy chain to miro on mitochondria J. Cell Biol 2006 173 459 461 16717123 PMC2063855
  103. Rusinol AE Cui Z Chen MH Vance JE A unique mitochondria-associated membrane fraction from rat liver has a high capacity for lipid synthesis and contains pre-Golgi secretory proteins including nascent lipoproteins J. Biol. Chem 1994 269 27494 27502 7961664
  104. Ryu SW Jeong HJ Choi M Karbowski M Choi C Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation Cell. Mol. Life Sci 2010 67 2839 2850 20372962 PMC11115811
  105. Sack GH Jr. Mitochondrial matters in Huntington disease J. Bioenerg. Biomembr 2010 42 189 191 20461451
  106. Sadun AA Morgia CL Carelli V Leber’s Hereditary Optic Neuropathy Curr Treat Options Neurol 2010 13 109 117 21063922
  107. Sahlender DA Roberts RC Arden SD Spudich G Taylor MJ Luzio JP Kendrick-Jones J Buss F Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis J. Cell Biol 2005 169 285 295 15837803 PMC2171882
  108. Santra S Gilkerson RW Davidson M Schon EA Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells Ann. Neurol 2004 56 662 669 15389892
  109. Schmucker S Puccio H Understanding the molecular mechanisms of Friedreich’s ataxia to develop therapeutic approaches Hum. Mol. Genet 2010 19 R103 R110 20413654
  110. Schon EA Area-Gomez E Is Alzheimer’s disease a disorder of mitochondria-associated membranes? J. Alzheimers Dis 2010 20 S281 S292 20421691
  111. Seleznev K Zhao C Zhang XH Song K Ma ZA Calcium-independent phospholipase A2 localizes in and protects mitochondria during apoptotic induction by staurosporine J. Biol. Chem 2006 281 22275 22288 16728389 PMC1829309
  112. Shan X Chiang PM Price DL Wong PC Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice Proc. Natl. Acad. Sci. USA 2010 107 16325 16330 20736350 PMC2941282
  113. Shi P Strom AL Gal J Zhu H Effects of ALS-related SOD1 mutants on dynein- and KIF5-mediated retrograde and anterograde axonal transport Biochim. Biophys. Acta 2010 1802 707 716 20510358 PMC2907440
  114. Shin JH Ko HS Kang H Lee Y Lee YI Pletinkova O Troconso JC Dawson VL Dawson TM PARIS (ZNF746) repression of PGC-1α contributes to neurodegeneration in Parkinson’s disease Cell 2011 144 689 702 21376232 PMC3063894
  115. Shirendeb U Reddy AP Manczak M Calkins MJ Mao P Tagle DA Reddy PH Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington’s disease: implications for selective neuronal damage Hum. Mol. Genet 2011 20 1438 1455 21257639 PMC3049363
  116. Silvestri G Mongini T Odoardi F Modoni A deRosa G Doriguzzi C Palmucci L Tonali P Servidei S A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency Neurology 2000 54 1693 1696 10762520
  117. Silvestri L Caputo V Bellacchio E Atorino L Dallapiccola B Valente EM Casari G Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism Hum. Mol. Genet 2005 14 3477 3492 16207731
  118. Simmen T Aslan JE Blagoveshchenskaya AD Thomas L Wan L Xiang Y Feliciangeli SF Hung CH Crump CM Thomas G PACS-2 controls endoplasmic reticulum-mitochondria communication and Bid-mediated apoptosis EMBO J 2005 24 717 729 15692567 PMC549619
  119. Simon DK Pankratz N Kissell DK Pauciulo MW Halter CA Rudolph A Pfeiffer RF Nichols WC Foroud T Parkinson Study Group, P.I. Maternal inheritance and mitochondrial DNA variants in familial Parkinson’s disease BMC Med. Genet 2010 11 53 20356410 PMC2858137
  120. Smits P Smeitink J van den Heuvel L Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies J. Biomed. Biotech 2010 2010 737385 PMC2854570 20396601
  121. Song W Chen J Petrilli A Liot G Klinglmayr E Zhou Y Poquiz P Tjong J Pouladi MA Hayden MR Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity Nat. Med 2011 17 377 382 21336284 PMC3051025
  122. Stokin GB Lillo C Falzone TL Brusch RG Rockenstein E Mount SL Raman R Davies P Masliah E Williams DS Goldstein LS Axonopathy and transport deficits early in the pathogenesis of Alzheimer’s disease Science 2005 307 1282 1288 15731448
  123. Stowers RS Megeath LJ Gorska-Andrzejak J Meinertzhagen IA Schwarz TL Axonal transport of mitochondria to synapses depends on milton, a novel Drosophila protein Neuron 2002 36 1063 1077 12495622
  124. Supnet C Bezprozvanny I Neuronal calcium signaling, mitochondrial dysfunction, and Alzheimer’s disease J. Alzheimers Dis 2010 20 S487 S498 20413848 PMC4996661
  125. Swerdlow RH Parks JK Davis JN 2nd Cassarino DS Trimmer PA Currie LJ Dougherty J Bridges WS Bennett JP Jr. Wooten GF Parker WD Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson’s disease family Ann. Neurol 1998 44 873 881 9851431
  126. Tang TS Tu H Chan EY Maximov A Wang Z Wellington CL Hayden MR Bezprozvanny I Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1 Neuron 2003 39 227 239 12873381 PMC3220623
  127. Tradewell ML Durham HD Mushynski WE Gentil BJ Mitochondrial and axonal abnormalities precede disruption of the neurofilament network in a model of Charcot-Marie-Tooth disease type 2E and are prevented by heat shock proteins in a mutant-specific fashion J. Neuropathol. Exp. Neurol 2009 68 642 652 19458545
  128. Trushina E Dyer RB Badger JD 2nd Ure D Eide L Tran DD Vrieze BT Legendre-Guillemin V McPherson PS Mandavilli BS Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro Mol. Cell. Biol 2004 24 8195 8209 15340079 PMC515048
  129. Twig G Shirihai OS The interplay between mitochondrial dynamics and mitophagy Antioxid. Redox Signal 2011 14 1939 1951 21128700 PMC3078508
  130. van de Leemput J Chandran J Knight MA Holtzclaw LA Scholz S Cookson MR Houlden H Gwinn-Hardy K Fung HC Lin X Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans PLoS Genet 2007 3 e108 17590087 PMC1892049
  131. Viscomi C Bottani E Civiletto G Cerutti R Moggio M Fagiolari G Schon EA Lamperti C Zeviani M In vivo correction of COX deficiency by activation of the AMPK/PGC1α axis Cell Metab 2011 in press PMC3130927 21723506
  132. Vives-Bauza C Przedborski S Mitophagy: the latest problem for Parkinson’s disease Trends Mol. Med 2011 17 158 165 21146459
  133. Vives-Bauza C Zhou C Huang Y Cui M de Vries RL Kim J May J Tocilescu MA Liu W Ko HS PINK1-dependent recruitment of Parkin to mitochondria in mitophagy Proc. Natl. Acad. Sci. USA 2010 107 378 383 19966284 PMC2806779
  134. Wang H Song P Du L Tian W Yue W Liu M Li D Wang B Zhu Y Cao C Parkin ubiquitinates Drp1 for proteasome-dependent degradation: implication of dysregulated mitochondrial dynamics in parkinson disease J. Biol. Chem 2011 286 11649 11658 21292769 PMC3064217
  135. Wang X Su B Fujioka H Zhu X Dynamin-like protein 1 reduction underlies mitochondrial morphology and distribution abnormalities in fibroblasts from sporadic Alzheimer’s disease patients Am. J. Pathol 2008 173 470 482 18599615 PMC2475784
  136. Wang X Su B Zheng L Perry G Smith MA Zhu X The role of abnormal mitochondrial dynamics in the pathogenesis of Alzheimer’s disease J. Neurochem 2009a 109 153 159 19393022 PMC2720030
  137. Weihofen A Thomas KJ Ostaszewski BL Cookson MR Selkoe DJ Pink1 forms a multiprotein complex with Miro and Milton, linking Pink1 function to mitochondrial trafficking Biochemistry 2009 48 2045 2052 19152501 PMC2693257
  138. Wells AL Lin AW Chen LQ Safer D Cain SM Hasson T Carragher BO Milligan RA Sweeney HL Myosin VI is an actin-based motor that moves backwards Nature 1999 401 505 508 10519557
  139. Yang F Jiang Q Zhao J Ren Y Sutton MD Feng J Parkin stabilizes microtubules through strong binding mediated by three independent domains J. Biol. Chem 2005 280 17154 17162 15737990
  140. Yi M Weaver D Hajnoczky G Control of mitochondrial motility and distribution by the calcium signal: a homeostatic circuit J. Cell Biol 2004 167 661 672 15545319 PMC2172592
  141. Zampese E Fasolato C Kipanyula MJ Bortolozzi M Pozzan T Pizzo P Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk Proc. Natl. Acad. Sci. USA 2011 108 2777 2782 21285369 PMC3041131
  142. Zhao C Takita J Tanaka Y Setou M Nakagawa T Takeda S Yang HW Terada S Nakata T Takei Y Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ Cell 2001 105 587 597 11389829
  143. Zheng B Liao Z Locascio JJ Lesniak KA Roderick SS Watt ML Eklund AC Zhang-James Y Kim PD Hauser MA PGC-1α, a potential therapeutic target for early intervention in Parkinson’s disease Sci. Transl. Med 2010 2 52ra73 PMC3129986 20926834
  144. Zhou C Huang Y Shao Y May J Prou D Perier C Dauer W Schon EA Przedborski S The kinase domain of mitochondrial PINK1 faces the cytoplasm Proc. Natl. Acad. Sci. USA 2008 105 12022 12027 18687899 PMC2575334
  145. Zinsmaier KE Babic M Russo GJ Mitochondrial transport dynamics in axons and dendrites Results Probl. Cell Differ 2009 48 107 139 19582407
  146. Ziviani E Tao RN Whitworth AJ Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin Proc. Natl. Acad. Sci. USA 2010 107 5018 5023 20194754 PMC2841909
  147. Zuchner S Wang G Tran-Viet KN Nance MA Gaskell PC Vance JM Ashley-Koch AE Pericak-Vance MA Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31 Am. J. Hum. Genet 2006 79 365 369 16826527 PMC1559498

Cited by

Sorted by citations

Authors
Schon, E. A., & Przedborski, S.
Affiliations
Columbia University (US)
Corresponding author
Przedborski, Serge
ORCID
Przedborski, Serge
Venue
Neuron
Publisher
Elsevier BV
Published
2011-06
Volume
70
Issue
6
Pages
1033-1053
ISSN
0896-6273 (ISSN-L)
DOI
10.1016/j.neuron.2011.06.003
PMC
PMC3407575
OpenAlex
W2037075564
Cited by
568
References
9
Citations by year
2026: 14 · 2025: 20 · 2024: 33 · 2023: 28 · 2022: 26 · 2021: 35 · 2020: 30 · 2019: 35 · 2018: 29 · 2017: 38 · 2016: 50 · 2015: 38 · 2014: 57 · 2013: 53 · 2012: 62
FWCI
5.57
Type
journal article
Language
en
Open access
Licence
Locations
  • Neuron (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • U.S. Department of Defense
  • National Institutes of Health (5rc2ns070276-02)
  • National Institute of Neurological Disorders and Stroke (RC2-NS070276, R01NS042269, R21NS072182, P50NS038370, NS042269, R21NS064191, NS070276, NS064191, NS38370, NS072182)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD32062, P01HD032062)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
  • Health Sciences › Medicine › Epidemiology › Autophagy in Disease and Therapy
  • Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
Keywords
mitochondria, mitochondrial respiration, mitochondrial dynamics, mitochondrial trafficking, mitochondrial quality control, hereditary neurodegenerative disease, cell death
MeSH terms
Adult, Energy Metabolism, Humans, Middle Aged, Mitochondria, Neurons, Neurodegenerative Diseases, Heredodegenerative Disorders, Nervous System, Protein Transport

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review