Peroxisomal acyl CoA oxidase deficiency

Sequential strategy to identify a susceptibility gene for schizophrenia: Report of potential linkage on chromosome 22q12‐q13.1: Part 1

Pulver, A. E., Karayiorgou, M., Wolyniec, P. S., Lasseter, V. K., Kasch, L. M., Nestadt, G., Antonarakis, S. E., Housman, D. E., Kazazian, H. H., Meyers, D. A., et al. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320540108 · Cited by 381 · see citing works

A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).

Poll‐The, B. T., Roels, F., de Baulny, H. O., Scotto, J. M., Vamecq, J., Schutgens, R. B. H., Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., & Schram, A. W. (1988) · Europe PMC (PubMed Central) · Cited by 258 · see citing works

Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration

Volpe, J. J., & Adams, R. D. (1972) · Acta Neuropathologica · doi:10.1007/bf00686900 · Cited by 225 · see citing works

Distinction between peroxisomal bifunctional enzyme and acyl‐CoA oxidase deficiencies

Watkins, P. A., McGuinness, M. C., Raymond, G. V., Hicks, B. A., Sisk, J. M., Moser, A. B., & Moser, H. W. (1995) · Annals of Neurology · doi:10.1002/ana.410380322 · Cited by 92 · see citing works

Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.

Fournier, B., Saudubray, J., Bénichou, B., Lyonnet, S., Münnich, A., Clevers, H. C., & Poll‐The, B. T. (1994) · Journal of Clinical Investigation · doi:10.1172/jci117365 · Cited by 83 · see citing works

Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases

Suzuki, Y., Shimozawa, N., Yajima, S., Yamaguchi, S., Orii, T., & Hashimoto, T. (1991) · Biochemical Pharmacology · doi:10.1016/0006-2952(91)90544-f · Cited by 54 · see citing works

First prenatal diagnosis of acyl‐CoA oxidase deficiency

Wanders, R. J. A., Schelen, A. M., Feller, N., Schutgens, R. B. H., Stellaard, F., Jakobs, C., Mitulla, B., & Seidlitz, G. (1990) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799398 · Cited by 41 · see citing works

Molecular Cloning and Functional Expression of a Human Peroxisomal Acyl-Coenzyme A Oxidase

Aoyama, T., Tsushima, K., Souri, M., Kamijo, T., Suzuki, Y., Shimozawa, N., Orii, T., & Hashimoto, T. (1994) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1994.1158 · Cited by 39 · see citing works

Characterization of a Pollination-Related cDNA fromPhalaenopsisEncoding a Protein Which Is Homologous to Human Peroxisomal Acyl-CoA Oxidase

Do, Y., & Huang, P.-L. (1997) · Archives of Biochemistry and Biophysics · doi:10.1006/abbi.1997.0212 · Cited by 15 · see citing works

Incidence of peroxisomal disorders in Japan

Suzuki, Y., Shimozawa, N., Yajima, S., Inoue, K., Orii, T., & Kondo, N. (1996) · The Japanese Journal of Human Genetics · doi:10.1007/bf01892624 · Cited by 13 · see citing works

Excretion of 3,6-epoxydicarboxylic acids in peroxisomal disorders

Pitt, J. J., & Poulos, A. (1993) · Clinica Chimica Acta · doi:10.1016/0009-8981(93)90059-d · Cited by 10 · see citing works

Peroxisomal disorders: The single peroxisomal enzyme deficiencies

Wanders, R. J. A., & Waterham, H. R. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.08.010 · Cited by 279 · see citing works

Null mutations in human and mouse orthologs frequently result in different phenotypes

Liao, B.-Y., & Zhang, J. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0800387105 · Cited by 234 · see citing works

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

Ferdinandusse, S., Denis, S., Hogenhout, E. M., Koster, J., van Roermund, C. W. T., IJlst, L., Moser, A. B., Wanders, R. J. A., & Waterham, H. R. (2007) · Human Mutation · doi:10.1002/humu.20535 · Cited by 156 · see citing works

Evidence of oxidative stress in very long chain fatty acid – Treated oligodendrocytes and potentialization of ROS production using RNA interference-directed knockdown of ABCD1 and ACOX1 peroxisomal proteins

Baarine, M., Andreoletti, P., Athias, A., Nury, T., Zarrouk, A., Ragot, K., Véjux, A., Riedinger, J., Kattan, Z., Bessède, G., et al. (2012) · Neuroscience · doi:10.1016/j.neuroscience.2012.03.058 · Cited by 119 · see citing works

When orthologs diverge between human and mouse

Gharib, W. H., & Robinson‐Rechavi, M. (2011) · Briefings in Bioinformatics · doi:10.1093/bib/bbr031 · Cited by 84 · see citing works

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy

Ferdinandusse, S., Barker, S., Lachlan, K. L., Durán, M., Waterham, H. R., Wanders, R. J. A., & Hammans, S. R. (2010) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2009.176255 · Cited by 47 · see citing works

Peroxisomal Disorders: A Review on Cerebellar Pathologies

Munter, S. D., Verheijden, S., Régal, L., & Baes, M. I. (2015) · Brain Pathology · doi:10.1111/bpa.12290 · Cited by 44 · see citing works

Coordinated regulation of scopoletin at adipose tissue–liver axis improved alcohol-induced lipid dysmetabolism and inflammation in rats

Lee, H.-I., & Lee, M. (2015) · Toxicology Letters · doi:10.1016/j.toxlet.2015.06.016 · Cited by 44 · see citing works

Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases

Carrozzo, R., Bellini, C., Lucioli, S., Deodato, F., Cassandrini, D., Cassanello, M., Caruso, U., Rizzo, C., Rizza, T., Napolitano, M. L., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32298 · Cited by 40 · see citing works

Syndromic retinitis pigmentosa.

Karuntu, J. S., Almushattat, H., Nguyen, X.-T.-A., Plomp, A. S., Wanders, R. J. A., Hoyng, C. B., van Schooneveld, M. J., Schalij-Delfos, N. E., Brands, M. M., Leroy, B. P., et al. (2025) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2024.101324 · Cited by 39 · see citing works

Straight‐chain acyl‐CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic‐type regression and a selective pattern of leukodystrophy

Kurian, M. A., Ryan, S. P., BESLEY, G. T. N., Wanders, R. J. A., & King, M. D. (2004) · Journal of Inherited Metabolic Disease · doi:10.1023/b:boli.0000016687.88818.6d · Cited by 34 · see citing works

Expression and purification of his-tagged rat peroxisomal acyl-CoA oxidase I wild-type and E421 mutant proteins

Zeng, J., & Li, D. (2004) · Protein Expression and Purification · doi:10.1016/j.pep.2004.08.013 · Cited by 29 · see citing works

High-resolution Structure of ybfF from Escherichia coli K12: A Unique Substrate-binding Crevice Generated by Domain Arrangement

Park, S., Lee, S.-H., Lee, J., Nishi, K., Kim, Y., Jung, C., & Kim, J. (2008) · Journal of Molecular Biology · doi:10.1016/j.jmb.2007.12.062 · Cited by 28 · see citing works

Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies

Funato, M., Shimozawa, N., Nagase, T., Takemoto, Y., Suzuki, Y., Imamura, Y., Matsumoto, T., Tsukamoto, T., Kojidani, T., Osumi, T., et al. (2006) · Brain and Development · doi:10.1016/j.braindev.2005.10.010 · Cited by 27 · see citing works

Peroxisomal Disorders and Their Mouse Models Point to Essential Roles of Peroxisomes for Retinal Integrity

Das, Y., Swinkels, D., & Baes, M. I. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22084101 · Cited by 24 · see citing works

Effects of hematopoietic stem cell transplantation on acyl‐CoA oxidase deficiency: a sibling comparison study

Wang, R., Monuki, E. S., Powers, J., Schwartz, P. H., Watkins, P. A., Shi, Y., Moser, A. B., Shrier, D. A., Waterham, H. R., Nugent, D. J., et al. (2014) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-014-9698-3 · Cited by 22 · see citing works

Network Analysis of Hepatic Genes Responded to High-Fat Diet in C57BL/6J Mice: Nutrigenomics Data Mining from Recent Research Findings

Kim, E., Kim, E., Kwon, E., Jang, H.-S., Hur, C., & Choi, M. (2010) · Journal of Medicinal Food · doi:10.1089/jmf.2009.1350 · Cited by 21 · see citing works

Dysfunctional peroxisomal lipid metabolisms and their ocular manifestations

Chen, C. T., Shao, Z., & Fu, Z. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.982564 · Cited by 19 · see citing works

Acyl CoA oxidase: from its expression, structure, folding, and import to its role in human health and disease

Kashyap, I., Deb, R., Battineni, A., & Nagotu, S. (2023) · Molecular Genetics and Genomics · doi:10.1007/s00438-023-02059-5 · Cited by 16 · see citing works

Clinical and Neuroimaging Spectrum of Peroxisomal Disorders

Tan, A. P., Gonçalves, F. G., Almehdar, A., & Soares, B. P. (2018) · Topics in Magnetic Resonance Imaging · doi:10.1097/rmr.0000000000000172 · Cited by 16 · see citing works

Teaching Neuro Images : Selective corticospinal tract involvement in late-onset Krabbe disease

Sehgal, R., Sharma, S., Sankhyan, N., Kumar, A., & Gulati, S. (2011) · Neurology · doi:10.1212/wnl.0b013e318225aaf5 · Cited by 12 · see citing works

Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency

Morita, A., Enokizono, T., Ohto, T., Tanaka, M., Watanabe, S., Takada, Y., Iwama, K., Mizuguchi, T., Matsumoto, N., Morita, M., et al. (2020) · Brain and Development · doi:10.1016/j.braindev.2020.10.011 · Cited by 12 · see citing works

Asiatic acid alleviates subarachnoid hemorrhage-induced brain injury in rats by inhibiting ferroptosis of neurons via targeting acyl-coenzyme a oxidase 1

Hu, Y., Gu, J., Jin, X., Wu, X., Li, H., Bai, L., Wu, J., & Li, X. (2024) · Neuropharmacology · doi:10.1016/j.neuropharm.2024.110208 · Cited by 9 · see citing works

Peroxisomal Disorders and Retinal Degeneration

Das, Y., & Baes, M. I. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-27378-1_52 · Cited by 9 · see citing works

Intrinsic enoyl-CoA isomerase activity of rat acyl-CoA oxidase I

Zeng, J., Deng, G., & Li, D. (2005) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2005.09.010 · Cited by 7 · see citing works

Hearing loss in inherited metabolic disorders: A systematic review

Trinh, T.-T., Blasco, H., Maillot, F., & Bakhos, D. (2021) · Metabolism · doi:10.1016/j.metabol.2021.154841 · Cited by 7 · see citing works

Fatty Acid Metabolism in Peroxisomes and Related Disorders

Morito, K., Ali, H., Kishino, S., & Tanaka, T. (2024) · Advances in experimental medicine and biology · doi:10.1007/5584_2024_802 · Cited by 6 · see citing works

Metabolic Disorders of the Brain: Part I

Kanekar, S. G., & Gustas, C. N. (2011) · Seminars in Ultrasound CT and MRI · doi:10.1053/j.sult.2011.08.003 · Cited by 6 · see citing works

Selective Pyramidal Tract Involvement in Late-Onset Krabbe Disease

Michael, S. N., Madaan, P., Jauhari, P., Chakrabarty, B., Kumar, A., & Gulati, S. (2019) · The Indian Journal of Pediatrics · doi:10.1007/s12098-019-02972-x · Cited by 4 · see citing works

Peroxisomal Disorders

Pennesi, M. E., & Weleber, R. G. (2012) · doi:10.1093/med/9780195326147.003.0044 · Cited by 4 · see citing works

Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders

Arora, V., Bijarnia‐Mahay, S., Dubey, S., & Saxena, R. (2020) · Molecular Syndromology · doi:10.1159/000510480 · Cited by 2 · see citing works

Peroxisomal Disorders

Wanders, R. J. A. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00110-5 · Cited by 2 · see citing works

Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1

Zheng, F., Lin, Z., Hu, Y., Shi, X., Zhao, Q., & Lin, Z. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12020473 · Cited by 1 · see citing works

Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations

Helvacıoğlu, D., Canbaz, A. T., Tekmenuray‐Unal, A., Ada, Y., Yapıcı, Ö., Genc, E., Kılavuz, S., Tosun, B. G., Hişmi, B. Ö., & Güran, T. (2025) · European Journal of Endocrinology · doi:10.1093/ejendo/lvaf094 · Cited by 1 · see citing works

Tyrosine Residues 232 and 401 Play a Critical Role in the Binding of the Cofactor FAD of Acyl-coA Oxidase

Deng, S., Li, P., Wang, Y., & Zeng, J. (2018) · Applied Biochemistry and Biotechnology · doi:10.1007/s12010-018-2698-2 · Cited by 1 · see citing works

Peroxisomal diseases

Powers, J. (2008) · CRC Press eBooks · doi:10.1201/b13319-10 · Cited by 1 · see citing works

Activités cytotoxiques et pro-oxydantes d'acides gras à très longue chaîne sur des oligodendrocytes murins sauvages et déficients en Abcd1 et Acox1 : application à la physiopathologie de l'X-ALD et de la P-NALD

Baarine, M. (2010) · theses.fr (ABES) · doi:10.70675/7ab2bcc8z16d2z420cz92f9zb3fd52371382 · Cited by 1 · see citing works

Peroxisomal Acyl-CoA Oxidase Deficiency

Suzuki, Y. (2005) · Springer eBooks · doi:10.1007/3-540-27660-2_20

etabolisme mitochondrial et peroxysomal des acides gras et sur l'inammation

Kebbaj, R. E. (2014)

Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system

Naga, D., Bhuwalka, R., Sunitha, T., Nallari, P., & Ananthapur, V. (2021) · European Journal of Medical Case Reports · doi:10.24911/ejmcr/173-1608540583

Faculty Opinions recommendation of When orthologs diverge between human and mouse.

Rice, J. J., & Norel, R. (2011) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.13336050.14702186

Altérations mitochondriales et processus inflammatoire dans la déficience en acyl- Coenzyme A oxydase 1 peroxysomale

Hajj, H. I. E. (2012) · doi:10.70675/f64502b8zb0d3z4fe5zbc45z543a928be0cb

Base moléculaire des effets de l'huile d'argan sur le métabolisme mitochondrial et peroxysomal des acides gras et sur l'inflammation

Kebbaj, R. E. (2012) · doi:10.70675/ecea23edz3e03z4a6cz9008zc708e4238600

Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases

Carrozzo, R., Bellini, C., Lucioli, S., Deodato, F., Cassandrini, D., Cassanello, M., Caruso, U., Rizzo, C., Rizza, T., Napolitano, M. L., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32298 · Cited by 40 · see citing works

Peroxisomal acyl⁃CoA oxidase deficiency: one case report and literature review

Hua⁃jing, Y., Yang, T., Li, X., Xiao-jing, L., & Zhong, P. (2021) · DOAJ (DOAJ: Directory of Open Access Journals) · doi:10.3969/j.issn.1672⁃6731.2021.04.009

Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system

Naga, D., Bhuwalka, R., Sunitha, T., Nallari, P., & Ananthapur, V. (2021) · European Journal of Medical Case Reports · doi:10.24911/ejmcr/173-1608540583

Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency

Morita, A., Enokizono, T., Ohto, T., Tanaka, M., Watanabe, S., Takada, Y., Iwama, K., Mizuguchi, T., Matsumoto, N., Morita, M., et al. (2020) · Brain and Development · doi:10.1016/j.braindev.2020.10.011 · Cited by 12 · see citing works

Siblings of acyl CoA oxidase deficiency caused by a novel ACOX1 gene mutation

Enokizono, T. (2018) · Japanese Society of Child Neurology