Wanders RJA, Vaz FM, Ferdinandusse S, Kemp S, Ebberink MS, Waterham HR. Laboratory diagnosis of peroxisomal disorders in the -omics era and the continued importance of biomarkers and biochemical studies. J Inborn Errors Metab Screen. 2018;6:232640981881028. https://doi.org/10.1177/2326409818810285.

Article  CAS  Google Scholar 

Fourcade S, Ferrer I, Pujol A. Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: a paradigm for axonal degeneration. Free Radic Biol Med. 2015;88:18–29. https://doi.org/10.1016/j.freeradbiomed.2015.05.041.

Article  CAS  PubMed  Google Scholar 

Kawada Y, Khan M, Sharma AK, Ratnayake DB, Dobashi K, Asayama K, Moser HW, Contreras MA, Singh I. Inhibition of peroxisomal functions due to oxidative imbalance induced by mistargeting of catalase to cytoplasm is restored by vitamin E treatment in skin fibroblasts from zellweger syndrome-like patients. Mol Genet Metab. 2004;83(4):297–305. https://doi.org/10.1016/j.ymgme.2004.07.012.

Article  CAS  PubMed  Google Scholar 

Argyriou C, D’Agostino MD, Braverman N. Peroxisome biogenesis disorders. Transl Sci Rare Dis. 2016;1(2):111–44. https://doi.org/10.3233/TRD-160003.

Article  PubMed  PubMed Central  Google Scholar 

Elumalai V, Pasrija D. Zellweger Syndrome. 2023 Feb 15. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan

Crane DI. Revisiting the neuropathogenesis of Zellweger syndrome. Neurochem Int. 2014;69:1–8. https://doi.org/10.1016/j.neuint.2014.02.007.

Article  CAS  PubMed  Google Scholar 

Faust PL, Banka D, Siriratsivawong R, Ng VG, Wikander TM. Peroxisome biogenesis disorders: the role of peroxisomes and metabolic dysfunction in developing brain. J Inherit Metab Dis. 2005;28(3):369–83. https://doi.org/10.1007/s10545-005-7059-y.

Article  CAS  PubMed  Google Scholar 

Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nat Clin Pract Neurol. 2007;3(3):140–51. https://doi.org/10.1038/ncpneuro0421.

Article  PubMed  Google Scholar 

Kemp S, Wanders R. Biochemical aspects of X-linked adrenoleukodystrophy: biochemical aspects of X-ALD. Brain Pathol. 2009;20(4):831–7. https://doi.org/10.1111/j.1750-3639.2010.00391.x.

Article  CAS  Google Scholar 

Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelman MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund T, Orchard PJ, Kuehl J-S, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC. International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: a consensus-based approach. Neurology. 2022. https://doi.org/10.1212/WNL.0000000000201374.

Article  PubMed  PubMed Central  Google Scholar 

Jaspers YRJ, Ferdinandusse S, Dijkstra IME, Barendsen RW, van Lenthe H, Kulik W, Engelen M, Goorden SMI, Vaz FM, Kemp S. Comparison of the diagnostic performance of C26:0-lysophosphatidylcholine and very long-chain fatty acids analysis for peroxisomal disorders. Front Cell Dev Biol. 2020;29(8):690. https://doi.org/10.3389/Fcell.2020.00690.PMID:32903870;PMCID:PMC7438929.

Article  Google Scholar 

Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Peroxisome biogenesis disorders in the zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016;117(3):313–21. https://doi.org/10.1016/j.ymgme.2015.12.009.

Article  CAS  PubMed  Google Scholar 

Moser AB, Liu Y, Shi X, Schrifl U, Hiebler S, Fatemi A, Braverman NE, Steinberg SJ, Watkins PA. Drug discovery for X-linked adrenoleukodystrophy: an unbiased screen for compounds that lower very long-chain fatty acids. J Cell Biochem. 2021;122(10):1337–49. https://doi.org/10.1002/jcb.30014.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, et al. Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy. N Engl J Med. 2017;377(17):1630–8. https://doi.org/10.1056/NEJMoa1700554.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tran C, Patel J, Stacy H, Mamak EG, Faghfoury H, Raiman J, Clarke JTR, Blaser S, Mercimek-Mahmutoglu S. Long-term outcome of patients with X-linked adrenoleukodystrophy: a retrospective cohort study. Eur J Paediatr Neurol. 2017;21(4):600–9. https://doi.org/10.1016/j.ejpn.2017.02.006.

Article  PubMed  Google Scholar 

Rockenbach FJ, Deon M, Marchese DP, Manfredini V, Mescka C, Ribas GS, Habekost CT, Castro CG, Jardim LB, Vargas CR. The effect of bone marrow transplantation on oxidative stress in x-linked adrenoleukodystrophy. Mol Genet Metab. 2012;106(2):231–6. https://doi.org/10.1016/j.ymgme.2012.03.019.

Article  CAS  PubMed  Google Scholar 

Petrillo S, D’Amico J, Nicita F, Torda C, Vasco G, Bertini ES, Cappa M, Piemonte F. Antioxidant response in human X-linked adrenoleukodystrophy fibroblasts. Antioxidants. 2022;11(11):2125. https://doi.org/10.3390/antiox11112125.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ivashchenko O, Van Veldhoven PP, Brees C, Ho Y-S, Terlecky SR, Fransen M. Intraperoxisomal redox balance in mammalian cells: oxidative stress and interorganellar cross-talk. Mol Biol Cell. 2011;22(9):1440–51. https://doi.org/10.1091/mbc.e10-11-0919.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Berger J, Dorninger F, Forss-Petter S, Kunze M. Peroxisomes in brain development and function. Biochim Biophys Acta. 2016;1863(5):934–55. https://doi.org/10.1016/j.bbamcr.2015.12.005.

Article  CAS  PubMed  Google Scholar 

Schrader M, Fahimi HD. Peroxisomes and oxidative stress. Biochim Biophys Acta. 2006;1763(12):1755–66. https://doi.org/10.1016/j.bbamcr.2006.09.006.

Article  CAS  PubMed  Google Scholar 

Fourcade S, Lopez-Erauskin J, Galino J, Duval C, Naudi A, Jove M, Kemp S, Villarroya F, Ferrer I, Pamplona R, Portero-Otin M, Pujol A. Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy. Hum Mol Genet. 2008;17(12):1762–73. https://doi.org/10.1093/hmg/ddn085.

Article  CAS  PubMed  Google Scholar 

Rahim RS, Chen M, Nourse CC, Meedeniya ACB, Crane DI. Mitochondrial changes and oxidative stress in a mouse model of zellweger syndrome neuropathogenesis. Neuroscience. 2016;334:201–13. https://doi.org/10.1016/j.neuroscience.2016.08.001.

Article  CAS  PubMed  Google Scholar 

Yu J, Chen T, Guo X, Zafar MI, Li H, Wang Z, Zheng J. The role of oxidative stress and inflammation in X-link adrenoleukodystrophy. Front Nutr. 2022;9:864358. https://doi.org/10.3389/fnut.2022.864358.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mizushima N, Yoshimori T. How to interpret LC3 immunoblotting. Autophagy. 2007;3(6):542–5. https://doi.org/10.4161/auto.4600.

Article  CAS  PubMed  Google Scholar 

Falcicchia C, Tozzi F, Arancio O, Watterson DM, Origlia N. Involvement of P38 MAPK in synaptic function and dysfunction. Int J Mol Sci. 2020;21(16):5624. https://doi.org/10.3390/ijms21165624.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Son Y, Cheong Y-K, Kim N-H, Chung H-T, Kang DG, Pae H-O. Mitogen-activated protein kinases and reactive oxygen species: How can ROS activate MAPK pathways? J Signal Transduct. 2011;2011:1–6. https://doi.org/10.1155/2011/792639.

Article  CAS  Google Scholar 

López-Erauskin J, Galino J, Ruiz M, Cuezva JM, Fabregat I, Cacabelos D, Boada J, Martínez J, Ferrer I, Pamplona R, Villarroya F, Portero-Otín M, Fourcade S, Pujol A. Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy. Hum Mol Genet. 2013;22(16):3296–305. https://doi.org/10.1093/hmg/ddt186.

Article  CAS  PubMed  Google Scholar 

Cho DH, Kim YS, Jo DS, Choe SK, Jo EK. Pexophagy: molecular mechanisms and implications for health and diseases. Mol Cells. 2018;41(1):55–64. https://doi.org/10.14348/molcells.2018.2245.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Launay N, Aguado C, Fourcade S, Ruiz M, Grau L, Riera J, Guilera C, Giròs M, Ferrer I, Knecht E, Pujol A. Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy. Acta Neuropathol. 2015;129(3):399–415. https://doi.org/10.1007/s00401-014-1378-8.

Article  PubMed  Google Scholar 

Wu JJ, Quijano C, Chen E, Liu H, Cao L, Fergusson MM, Rovira II, Gutkind S, Daniels MP, Komatsu M, Finkel T. Mitochondrial dysfunction and oxidative stress mediate the physiological impairment induced by the disruption of autophagy. Aging. 2009;1(4):425–37. https://doi.org/10.18632/aging.100038.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li H, Lismont C, Revenco I, Hussein MAF, Costa CF, Fransen M. The peroxisome-autophagy redox connection: a double-edged sword? Front Cell Dev Biol. 2021;9:814047. https://doi.org/10.3389/fcell.2021.814047.

Article  PubMed  PubMed Central  Google Scholar 

Lismont C, Nordgren M, Brees C, Knoops B, Van Veldhoven PP, Fransen M. Peroxisomes as modulators of cellular protein thiol oxidation: a new model system. Antioxid Redox Signal. 2019;30(1):22–39. https://doi.org/10.1089/ars.2017.6997.

Article  CAS  PubMed