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Cited by 8Glaucoma and retinal disordersMitochondrial Function and PathologyRetinal Development and Disorders

SARM1 loss protects retinal ganglion cells in a mouse model of autosomal dominant optic atrophy

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Ding, Chen, Ndiaye, Papa S., Campbell, Sydney R., Fry, Michelle Y., Gong, Jincheng, Wienbar, Sophia R., Gibbs, Whitney, Morquette, Philippe +3 more·2025·Journal of Clinical Investigation
DOI 10.1172/jci191315PMC PMC12165793
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Abstract

Autosomal dominant optic atrophy (ADOA), the most prevalent hereditary optic neuropathy, leads to retinal ganglion cell (RGC) degeneration and vision loss. ADOA is primarily caused by mutations in the optic atrophy type 1 ( OPA1 ) gene, which encodes a conserved GTPase important for mitochondrial inner membrane dynamics. To date, the disease mechanism remains unclear, and no therapies are available. We generated a mouse model carrying the pathogenic Opa1 R290Q/+ allele that recapitulated key features of human ADOA, including mitochondrial defects, age-related RGC loss, optic nerve degeneration, and reduced RGC functions. We identified sterile alpha and TIR motif containing 1 (SARM1), a neurodegeneration switch, as a key driver of RGC degeneration in these mice. Sarm1 KO nearly completely suppressed all the degeneration phenotypes without reversing mitochondrial fragmentation. Additionally, we show that a portion of SARM1 localized within the mitochondrial intermembrane space. These findings indicated that SARM1 was activated downstream of mitochondrial dysfunction in ADOA, highlighting it as a promising therapeutic target.

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  • Sarm1 knockout mice show few phenotypes.

    “Accordingly, Sarm1 knockout (KO) mice show few phenotypes 49,50”

    From NAD+ hydrolase Sarm1 is a key driver of synapse degeneration and memory loss in Alzheimer’s disease (2025) · cites this paper as [50]

    The Results sections on RGC degeneration and function examine Sarm1 knockout in mice carrying an Opa1 mutation; their controls are Sarm1 heterozygotes. Our copy reports protection in that disease model but does not assess whether Sarm1 knockout mice generally show few phenotypes. Searches for normal development and baseline phenotypes found no such assessment. (LLM, conf=0.72)

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  1. [1]Lenaers G et al Dominant optic atrophy Orphanet J Rare Dis 2012 7 46 10.1186/1750-1172-7-46 22776096 PMC3526509 · DOI
  2. [2]Yu-Wai-Man P et al The prevalence and natural history of dominant optic atrophy due to OPA1 mutations Ophthalmology 2010 117 8 1538 1546 10.1016/j.ophtha.2009.12.038 20417570 PMC4040407 · DOI
  3. [3]Yu-Wai-Man P et al Inherited mitochondrial optic neuropathies J Med Genet 2009 46 3 145 158 10.1136/jmg.2007.054270 19001017 PMC2643051 · DOI
  4. [4]Lenaers G et al Dominant optic atrophy: culprit mitochondria in the optic nerve Prog Retin Eye Res 2021 83 100935 10.1016/j.preteyeres.2020.100935 33340656 · DOI
  5. [5]Alexander C et al OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 Nat Genet 2000 26 2 211 215 10.1038/79944 11017080 · DOI · Paper page
  6. [6]Ferre M et al Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations Hum Mutat 2009 30 7 E692 E705 10.1002/humu.21025 19319978 · DOI
  7. [7]Delettre C et al Mutation spectrum and splicing variants in the OPA1 gene Hum Genet 2001 109 6 584 591 10.1007/s00439-001-0633-y 11810270 · DOI
  8. [8]Almind GJ et al Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90% BMC Med Genet 2012 13 65 10.1186/1471-2350-13-65 22857269 PMC3507804 · DOI
  9. [9]Wong ED et al The intramitochondrial dynamin-related GTPase, Mgm1p, is a component of a protein complex that mediates mitochondrial fusion J Cell Biol 2003 160 3 303 311 10.1083/jcb.200209015 12566426 PMC2172654 · DOI
  10. [10]Frezza C et al OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion Cell 2006 126 1 177 189 10.1016/j.cell.2006.06.025 16839885 · DOI · Paper page
  11. [11]Weisschuh N et al Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants PLoS One 2021 16 7 e0253987 10.1371/journal.pone.0253987 34242285 PMC8270428 · DOI
  12. [12]Yu-Wai-Man P et al Multi-system neurological disease is common in patients with OPA1 mutations Brain 2010 133 pt 3 771 786 10.1093/brain/awq007 20157015 PMC2842512 · DOI
  13. [13]Amati-Bonneau P et al OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes Brain 2008 131 pt 2 338 351 10.1093/brain/awm298 18158317 · DOI · Paper page
  14. [15]Alavi MV et al A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy Brain 2007 130 pt 4 1029 1042 10.1093/brain/awm005 17314202 · DOI
  15. [16]Sarzi E et al The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse Brain 2012 135 pt 12 3599 3613 10.1093/brain/aws303 23250881 · DOI
  16. [17]Williams PA et al Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity Brain 2012 135 pt 2 493 505 10.1093/brain/awr330 22300878 · DOI
  17. [18]Le Roux B et al OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database Orphanet J Rare Dis 2019 14 1 214 10.1186/s13023-019-1187-1 31500643 PMC6734442 · DOI
  18. [19]Zaninello M et al Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy Nat Commun 2020 11 1 4029 10.1038/s41467-020-17821-1 32788597 PMC7423926 · DOI · Paper page
  19. [20]Ehses S et al Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1 J Cell Biol 2009 187 7 1023 1036 10.1083/jcb.200906084 20038678 PMC2806285 · DOI
  20. [21]Head B et al Inducible proteolytic inactivation of OPA1 mediated by the OMA1 protease in mammalian cells J Cell Biol 2009 187 7 959 966 10.1083/jcb.200906083 20038677 PMC2806274 · DOI · Paper page
  21. [22]Wang R et al Identification of new OPA1 cleavage site reveals that short isoforms regulate mitochondrial fusion Mol Biol Cell 2021 32 2 157 168 10.1091/mbc.E20-09-0605 33237841 PMC8120690 · DOI
  22. [23]Griparic L et al Regulation of the mitochondrial dynamin-like protein Opa1 by proteolytic cleavage J Cell Biol 2007 178 5 757 764 10.1083/jcb.200704112 17709430 PMC2064541 · DOI
  23. [24]Song Z et al OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L J Cell Biol 2007 178 5 749 755 10.1083/jcb.200704110 17709429 PMC2064540 · DOI
  24. [25]Mishra P et al Proteolytic cleavage of Opa1 stimulates mitochondrial inner membrane fusion and couples fusion to oxidative phosphorylation Cell Metab 2014 19 4 630 641 10.1016/j.cmet.2014.03.011 24703695 PMC4018240 · DOI · Paper page
  25. [26]Baker MJ et al Stress-induced OMA1 activation and autocatalytic turnover regulate OPA1-dependent mitochondrial dynamics EMBO J 2014 33 6 578 593 10.1002/embj.201386474 24550258 PMC3989652 · DOI
  26. [27]Ge Y et al Two forms of Opa1 cooperate to complete fusion of the mitochondrial inner-membrane Elife 2020 9 e50973 10.7554/eLife.50973 31922487 PMC7299343 · DOI · Paper page
  27. [28]Fry MY et al In situ architecture of Opa1-dependent mitochondrial cristae remodeling EMBO J 2024 43 3 391 413 10.1038/s44318-024-00027-2 38225406 PMC10897290 · DOI
  28. [29]Anand R et al The i-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission J Cell Biol 2014 204 6 919 929 10.1083/jcb.201308006 24616225 PMC3998800 · DOI · Paper page
  29. [30]Ahola S et al Opa1 processing is dispensable in mouse development but is protective in mitochondrial cardiomyopathy Sci Adv 2024 10 31 eadp0443 10.1126/sciadv.adp0443 39093974 PMC11296347 · DOI
  30. [31]Del Dotto V et al Eight human OPA1 isoforms, long and short: what are they for? Biochim Biophys Acta Bioenerg 2018 1859 4 263 269 10.1016/j.bbabio.2018.01.005 29382469 · DOI
  31. [32]Cogliati S et al Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency Cell 2013 155 1 160 171 10.1016/j.cell.2013.08.032 24055366 PMC3790458 · DOI · Paper page
  32. [33]Essuman K et al The SARM1 Toll/Interleukin-1 receptor domain possesses intrinsic NAD+ cleavage activity that promotes pathological axonal degeneration Neuron 2017 93 6 1334 1343 10.1016/j.neuron.2017.02.022 28334607 PMC6284238 · DOI · Paper page
  33. [34]Jiang Y et al The NAD+-mediated self-inhibition mechanism of pro-neurodegenerative SARM1 Nature 2020 588 7839 658 663 10.1038/s41586-020-2862-z 33053563 · DOI
  34. [35]Figley MD et al SARM1 is a metabolic sensor activated by an increased NMN/NAD+ ratio to trigger axon degeneration Neuron 2021 109 7 1118 1136 10.1016/j.neuron.2021.02.009 33657413 PMC8174188 · DOI · Paper page
  35. [36]Ko KW et al Live imaging reveals the cellular events downstream of SARM1 activation Elife 2021 10 e71148 10.7554/eLife.71148 34779400 PMC8612704 · DOI
  36. [37]Zeng H et al Loss of Sarm1 reduces retinal ganglion cell loss in chronic glaucoma Acta Neuropathol Commun 2024 12 1 23 10.1186/s40478-024-01736-9 38331947 PMC10854189 · DOI
  37. [38]Ko KW et al SARM1 acts downstream of neuroinflammatory and necroptotic signaling to induce axon degeneration J Cell Biol 2020 219 8 e201912047 10.1083/jcb.201912047 32609299 PMC7401797 · DOI
  38. [39]Li Y et al Sarm1 activation produces cADPR to increase intra-axonal Ca++ and promote axon degeneration in PIPN J Cell Biol 2022 221 2 e202106080 10.1083/jcb.202106080 34935867 PMC8704956 · DOI
  39. [40]Marion CM et al Sarm1 deletion reduces axon damage, demyelination, and white matter atrophy after experimental traumatic brain injury Exp Neurol 2019 321 113040 10.1016/j.expneurol.2019.113040 31445042 · DOI
  40. [41]Sato-Yamada Y et al A SARM1-mitochondrial feedback loop drives neuropathogenesis in a Charcot-Marie-Tooth disease type 2A rat model J Clin Invest 2022 132 23 e161566 10.1172/JCI161566 36287202 PMC9711878 · DOI
  41. [42]Summers DW et al Mitochondrial dysfunction induces Sarm1-dependent cell death in sensory neurons J Neurosci 2014 34 28 9338 9350 10.1523/JNEUROSCI.0877-14.2014 25009267 PMC4087211 · DOI
  42. [44]Loreto A et al Programmed axon death: a promising target for treating retinal and optic nerve disorders Eye (Lond) 2024 38 10 1802 1809 10.1038/s41433-024-03025-0 38538779 PMC11226669 · DOI
  43. [45]Del Dotto V et al Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models Biochim Biophys Acta Mol Basis Dis 2018 1864 10 3496 3514 10.1016/j.bbadis.2018.08.004 30293569 · DOI
  44. [46]Olichon A et al Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis J Cell Physiol 2007 211 2 423 430 10.1002/jcp.20950 17167772 · DOI
  45. [47]Yu C et al Structural insights into G domain dimerization and pathogenic mutation of OPA1 J Cell Biol 2020 219 7 e201907098 10.1083/jcb.201907098 32379273 PMC7337494 · DOI
  46. [48]Chozinski TJ et al Expansion microscopy with conventional antibodies and fluorescent proteins Nat Methods 2016 13 6 485 488 10.1038/nmeth.3833 27064647 PMC4929147 · DOI
  47. [49]Yuan M et al A positive/negative ion-switching, targeted mass spectrometry-based metabolomics platform for bodily fluids, cells, and fresh and fixed tissue Nat Protoc 2012 7 5 872 881 10.1038/nprot.2012.024 22498707 PMC3685491 · DOI
  48. [50]Townsend DM et al The importance of glutathione in human disease Biomed Pharmacother 2003 57 3-4 145 155 10.1016/S0753-3322(03)00043-X 12818476 PMC6522248 · DOI
  49. [51]Friedman JR et al ER tubules mark sites of mitochondrial division Science 2011 334 6054 358 362 10.1126/science.1207385 21885730 PMC3366560 · DOI · Paper page
  50. [52]Mageswaran SK et al Nanoscale details of mitochondrial constriction revealed by cryoelectron tomography Biophys J 2023 122 18 3768 3782 10.1016/j.bpj.2023.07.030 37533259 PMC10541493 · DOI
  51. [53]Loson OC et al Fis1, Mff, MiD49, and MiD51 mediate Drp1 recruitment in mitochondrial fission Mol Biol Cell 2013 24 5 659 667 10.1091/mbc.e12-10-0721 23283981 PMC3583668 · DOI · Paper page
  52. [54]Mears JA et al Conformational changes in Dnm1 support a contractile mechanism for mitochondrial fission Nat Struct Mol Biol 2011 18 1 20 26 10.1038/nsmb.1949 21170049 PMC3059246 · DOI
  53. [55]Malka F et al Separate fusion of outer and inner mitochondrial membranes EMBO Rep 2005 6 9 853 859 10.1038/sj.embor.7400488 16113651 PMC1369163 · DOI
  54. [56]Meeusen S et al Mitochondrial fusion intermediates revealed in vitro Science 2004 305 5691 1747 1752 10.1126/science.1100612 15297626 · DOI
  55. [57]Barad BA et al Quantifying organellar ultrastructure in cryo-electron tomography using a surface morphometrics pipeline J Cell Biol 2023 222 4 e202204093 10.1083/jcb.202204093 36786771 PMC9960335 · DOI · Paper page
  56. [59]Pelzel HR et al Histone H4 deacetylation plays a critical role in early gene silencing during neuronal apoptosis BMC Neurosci 2010 11 62 10.1186/1471-2202-11-62 20504333 PMC2886060 · DOI
  57. [60]Ronnback C et al Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy Acta Ophthalmol 2015 93 8 762 766 10.1111/aos.12835 26385429 · DOI
  58. [61]Carelli V et al Mitochondrial dysfunction as a cause of optic neuropathies Prog Retin Eye Res 2004 23 1 53 89 10.1016/j.preteyeres.2003.10.003 14766317 · DOI
  59. [62]Liu S et al Comparative analysis of electroretinogram with subdermal and invasive recording methods in mice Biochem Biophys Res Commun 2023 655 118 126 10.1016/j.bbrc.2023.03.029 36934587 · DOI
  60. [63]Frishman LJ. Chapter 7 - Electrogenesis of the Electroretinogram. In: Ryan SJ, et al, eds. Retina. Fifth Edition. W.B. Saunders; 2013:177–201.
  61. [64]Bhatt Y et al The origins of the full-field flash electroretinogram b-wave Front Mol Neurosci 2023 16 1153934 10.3389/fnmol.2023.1153934 37465364 PMC10351385 · DOI
  62. [65]Ridder WH et al The visual evoked potential in the mouse--origins and response characteristics Vision Res 2006 46 6-7 902 913 10.1016/j.visres.2005.09.006 16242750 · DOI
  63. [66]Liu S et al An optimized procedure to record visual evoked potential in mice Exp Eye Res 2022 218 109011 10.1016/j.exer.2022.109011 35245512 · DOI
  64. [67]Porciatti V et al The visual physiology of the wild type mouse determined with pattern VEPs Vision Res 1999 39 18 3071 3081 10.1016/S0042-6989(99)00022-X 10664805 · DOI · Paper page
  65. [68]Wildberger HG et al Visually evoked cortical potentials in the evaluation of homonymous and bitemporal visual field defects Br J Ophthalmol 1976 60 4 273 278 10.1136/bjo.60.4.273 1276115 PMC1017491 · DOI
  66. [69]Oyster CW et al Direction-selective retinal ganglion cells and control of optokinetic nystagmus in the rabbit Vision Res 1972 12 2 183 193 10.1016/0042-6989(72)90110-1 5033683 · DOI
  67. [70]Dhande OS et al Genetic dissection of retinal inputs to brainstem nuclei controlling image stabilization J Neurosci 2013 33 45 17797 17813 10.1523/JNEUROSCI.2778-13.2013 24198370 PMC3818553 · DOI
  68. [71]Yonehara K et al Identification of retinal ganglion cells and their projections involved in central transmission of information about upward and downward image motion PLoS One 2009 4 1 e4320 10.1371/journal.pone.0004320 19177171 PMC2629575 · DOI
  69. [72]Chen H et al Subtype-dependent postnatal development of direction- and orientation-selective retinal ganglion cells in mice J Neurophysiol 2014 112 9 2092 2101 10.1152/jn.00320.2014 25098962 PMC4274919 · DOI
  70. [73]Ames A et al Measurement of function in an in vitro preparation of mammalian central nervous tissue J Neurophysiol 1960 23 676 691 10.1152/jn.1960.23.6.676 13682987 · DOI
  71. [74]Risner ML et al Axogenic mechanism enhances retinal ganglion cell excitability during early progression in glaucoma Proc Natl Acad Sci U S A 2018 115 10 E2393 E2402 10.1073/pnas.1714888115 29463759 PMC5877940 · DOI
  72. [75]Della Santina L et al Differential progression of structural and functional alterations in distinct retinal ganglion cell types in a mouse model of glaucoma J Neurosci 2013 33 44 17444 17457 10.1523/JNEUROSCI.5461-12.2013 24174678 PMC3812509 · DOI
  73. [76]Figley MD DiAntonio A The SARM1 axon degeneration pathway: control of the NAD+ metabolome regulates axon survival in health and disease Curr Opin Neurobiol 2020 63 59 66 10.1016/j.conb.2020.02.012 32311648 PMC7483800 · DOI
  74. [77]Sasaki Y et al SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration Elife 2020 9 e62027 10.7554/eLife.62027 33107823 PMC7591247 · DOI
  75. [78]Kim Y et al MyD88-5 links mitochondria, microtubules, and JNK3 in neurons and regulates neuronal survival J Exp Med 2007 204 9 2063 2074 10.1084/jem.20070868 17724133 PMC2118693 · DOI · Paper page
  76. [79]Panneerselvam P et al Targeting of pro-apoptotic TLR adaptor SARM to mitochondria: definition of the critical region and residues in the signal sequence Biochem J 2012 442 2 263 271 10.1042/BJ20111653 22145856 · DOI
  77. [80]Panneerselvam P et al T-cell death following immune activation is mediated by mitochondria-localized SARM Cell Death Differ 2013 20 3 478 489 10.1038/cdd.2012.144 23175186 PMC3569988 · DOI
  78. [81]Chen CY et al Sarm1, a negative regulator of innate immunity, interacts with syndecan-2 and regulates neuronal morphology J Cell Biol 2011 193 4 769 784 10.1083/jcb.201008050 21555464 PMC3166868 · DOI
  79. [82]Geisler S et al Gene therapy targeting SARM1 blocks pathological axon degeneration in mice J Exp Med 2019 216 2 294 303 10.1084/jem.20181040 30642945 PMC6363435 · DOI · Paper page
  80. [83]Gerdts J et al Sarm1-mediated axon degeneration requires both SAM and TIR interactions J Neurosci 2013 33 33 13569 13580 10.1523/JNEUROSCI.1197-13.2013 23946415 PMC3742939 · DOI
  81. [84]Zhou D et al Protocol for mitochondrial isolation and sub-cellular localization assay for mitochondrial proteins STAR Protoc 2023 4 1 102088 10.1016/j.xpro.2023.102088 36853693 PMC9932554 · DOI
  82. [85]Koma R et al Localization of myoglobin in mitochondria: implication in regulation of mitochondrial respiration in rat skeletal muscle Physiol Rep 2021 9 5 e14769 10.14814/phy2.14769 33650803 PMC7923563 · DOI
  83. [86]Liu P et al Differential effects of SARM1 inhibition in traumatic glaucoma and EAE optic neuropathies Mol Ther Nucleic Acids 2023 32 13 27 10.1016/j.omtn.2023.02.029 36950280 PMC10025007 · DOI
  84. [87]Gould SA et al Sarm1 haploinsufficiency or low expression levels after antisense oligonucleotides delay programmed axon degeneration Cell Rep 2021 37 11 110108 10.1016/j.celrep.2021.110108 34910914 PMC8692746 · DOI
  85. [88]Feldman HC et al Selective inhibitors of SARM1 targeting an allosteric cysteine in the autoregulatory ARM domain Proc Natl Acad Sci U S A 2022 119 35 e2208457119 10.1073/pnas.2208457119 35994671 PMC9436332 · DOI
  86. [89]Hughes RO et al Small molecule SARM1 inhibitors recapitulate the SARM1–/– phenotype and allow recovery of a metastable pool of axons fated to degenerate Cell Rep 2021 34 1 108588 10.1016/j.celrep.2020.108588 33406435 PMC8179325 · DOI
  87. [90]von der Malsburg A et al Structural mechanism of mitochondrial membrane remodelling by human OPA1 Nature 2023 620 7976 1101 1108 10.1038/s41586-023-06441-6 37612504 PMC10875962 · DOI
  88. [91]Faelber K et al Structure and assembly of the mitochondrial membrane remodelling GTPase Mgm1 Nature 2019 571 7765 429 433 10.1038/s41586-019-1372-3 31292547 PMC7116848 · DOI
  89. [92]Gispert S et al Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration PLoS One 2009 4 6 e5777 10.1371/journal.pone.0005777 19492057 PMC2686165 · DOI
  90. [95]Tran NM et al Single-cell profiles of retinal ganglion cells differing in resilience to injury reveal neuroprotective genes Neuron 2019 104 6 1039 1055 10.1016/j.neuron.2019.11.006 31784286 PMC6923571 · DOI · Paper page
  91. [96]Hahn J et al Evolution of neuronal cell classes and types in the vertebrate retina Nature 2023 624 7991 415 424 10.1038/s41586-023-06638-9 38092908 PMC10719112 · DOI
  92. [97]Osterloh JM et al dSarm/Sarm1 is required for activation of an injury-induced axon death pathway Science 2012 337 6093 481 484 10.1126/science.1223899 22678360 PMC5225956 · DOI
  93. [98]Loring HS Thompson PR Emergence of SARM1 as a potential therapeutic target for Wallerian-type diseases Cell Chem Biol 2020 27 1 1 13 10.1016/j.chembiol.2019.11.002 31761689 PMC6980728 · DOI
  94. [99]Bosanac T et al Pharmacological SARM1 inhibition protects axon structure and function in paclitaxel-induced peripheral neuropathy Brain 2021 144 10 3226 3238 10.1093/brain/awab184 33964142 PMC8634121 · DOI
  95. [100]Lin CS et al Mouse mtDNA mutant model of Leber hereditary optic neuropathy Proc Natl Acad Sci U S A 2012 109 49 20065 20070 10.1073/pnas.1217113109 23129651 PMC3523873 · DOI
  96. [101]Wallace DC et al Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy Science 1988 242 4884 1427 1430 10.1126/science.3201231 3201231 · DOI · Paper page

Cited by

Sorted by citations

Authors
Ding, C., Ndiaye, P. S., Campbell, S. R., Fry, M. Y., Gong, J., Wienbar, S. R., Gibbs, W., Morquette, P., Chao, L. H., Do, M. T. H., & Schwarz, T. L.
Affiliations
  • Boston Children's Hospital (US)
  • Harvard University (US)
ORCID
Venue
Journal of Clinical Investigation
Publisher
American Society for Clinical Investigation
Published
2025-05-09
Volume
135
Issue
12
ISSN
  • 0021-9738 (ISSN-L)
  • 1558-8238
DOI
10.1172/jci191315
PMC
PMC12165793
OpenAlex
W4410229719
Cited by
8
References
5
Citations by year
2026: 4 · 2025: 4
FWCI
6.75
Type
journal article
Language
en
Open access
Licence
Locations
  • Journal of Clinical Investigation (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • Molloy Family Research and Innovation Fund at BCH (N/A)
  • NIH (R35GM142553, EY032731,EY036071, HL007901)
  • The Jane Coffin Childs Fund for Medical (N/A)
  • F.M. Kirby Neurobiology Center Innovation Grants at BCH (N/A)
  • Helen Hay Whitney Foundation (N/A)
  • Warren Alpert Foundation (N/A)
  • Lefler Center of Harvard Medical School (N/A)
  • Tommy Fuss Center of Boston Children’s Hospital (N/A)
  • Rosamund Stone Zander Translational Neuroscience Center at BCH (N/A)
Topics
  • Health Sciences › Medicine › Ophthalmology › Glaucoma and retinal disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
Keywords
autosomal dominant optic atrophy, SARM1, retinal ganglion cells, OPA1, mitochondrial dysfunction, mitochondrial fragmentation, neurodegeneration, hereditary optic neuropathy, intermembrane space, therapeutic target
MeSH terms
Animals, Cytoskeletal Proteins, Disease Models, Animal, Humans, Mitochondria, Retinal Ganglion Cells, Mice, Knockout, GTP Phosphohydrolases, Optic Atrophy, Autosomal Dominant, Armadillo Domain Proteins, Mice

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