Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Braverman, N., Steel, G., Obie, C., Moser, A. B., Moser, H. W., Gould, S. J., & Valle, D. L. (1997) · Nature Genetics · doi:10.1038/ng0497-369 · Cited by 433

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

Motley, A. M., Hettema, E. H., Hogenhout, E. M., Brites, P., ten Asbroek, A. L. M. A., Wijburg, F. A., Baas, F., Heijmans, H. S. A., Tabak, H. F., Wanders, R. J. A., et al. (1997) · Nature Genetics · doi:10.1038/ng0497-377 · Cited by 271

Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene functionPreprint

Seedorf, U., Raabe, M., Ellinghaus, P., Kannenberg, F., Fobker, M., Engel, T., Denis, S. W., Wouters, F., WIRTZ, K. W. A., Wanders, R. J. A., et al. (1998) · Genes & Development · doi:10.1101/gad.12.8.1189 · Cited by 268

Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

Ferdinandusse, S., Denis, S., Clayton, P. T., Graham, A., Rees, J. E., Allen, J. T., McLean, B. N., Brown, A. Y., Vreken, P., Waterham, H. R., et al. (2000) · Nature Genetics · doi:10.1038/72861 · Cited by 262

Clinical and biochemical spectrum of D‐bifunctional protein deficiency

Ferdinandusse, S., Denis, S. W., Mooyer, P. A. W., Dekker, C., Durán, M., Soorani‐Lunsing, R. J., Boltshauser, E., Macaya, A., Gärtner, J., Majoie, C. B. L. M., et al. (2005) · Annals of Neurology · doi:10.1002/ana.20702 · Cited by 198

Refsum's disease: a peroxisomal disorder affecting phytanic acid α‐oxidation

Wierzbicki, A. S., Lloyd, M. D., Schofield, C. J., Feher, M. D., & Gibberd, F. B. (2002) · Journal of Neurochemistry · doi:10.1046/j.0022-3042.2002.00766.x · Cited by 195

Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

Ferdinandusse, S., Denis, S. W., Clayton, P. T., Graham, A., REES, J. E., Allen, J. T., McLean, B., Brown, A., Vreken, P., Waterham, H. R., et al. (2001) · Biochemical Society Transactions · doi:10.1042/bst029a029c · Cited by 192

Phospholipid transfer proteins revisited

WIRTZ, K. W. A. (1997) · Biochemical Journal · doi:10.1042/bj3240353 · Cited by 178

Rhizomelic Chondrodysplasia Punctata: Another Peroxisomal Disorder

Ziv, Y., Rubin, M., Lombrozo, R., Rapoport, D., & Dintsman, M. (1985) · New England Journal of Medicine · doi:10.1056/nejm198507183130322 · Cited by 161

Identification of the peroxisomal β-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids

Ferdinandusse, S., Denis, S. W., van Roermund, C. W. T., Wanders, R. J. A., & Dacremont, G. (2004) · Journal of Lipid Research · doi:10.1194/jlr.m300512-jlr200 · Cited by 144

Maladies peroxysomales

Astudillo, L. M., Sabourdy, F., Touati, G., & Levade, T. (2016) · La Presse Médicale · doi:10.1016/j.lpm.2015.05.009 · Cited by 6

Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders

Wanders, R. J. A., Engelen, M., & Vaz, F. M. (2022) · Springer eBooks · doi:10.1007/978-3-662-63123-2_42 · Cited by 4

A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy

Jiang, M., Wang, S., Li, F. R., Geng, J., Ji, Y., Li, K., & Jiang, X. (2020) · Medicine · doi:10.1097/md.0000000000023033 · Cited by 3

Activation of the SCPx promoter in mouse adrenocortical Y1 cells

Lopez, D., Niesen, M. I., Bedi, M., Hale, D. M., & McLean, M. P. (2007) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2007.03.194 · Cited by 3

Single Peroxisomal Enzyme and Transporter Deficiencies in Human Diseases and Mouse Models

Kunze, M., & Berger, J. (2014) · Springer eBooks · doi:10.1007/978-3-7091-1788-0_8 · Cited by 3

Neurodegeneration with brain iron accumulation

Schneider, S. A. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813955-4.00046-5 · Cited by 3

Special issue: Lipid transporters in cell biology

Cockcroft, S. (2007) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2007.05.006 · Cited by 3

Evaluating the Strength of Evidence for Genes Implicated in Peroxisomal Disorders Using the Clingen Clinical Validity Framework and Providing Updates to the Peroxisomal Disease Nomenclature

Mohan, S., Mayers, M., Weaver, M. A., Baudet, H., Biase, I. D., Goldstein, J., Mao, R., McGlaughon, J., Moser, A. B., Pujol, A., et al. (2023) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2023.107604 · Cited by 2

Lauric acid dependent enhancement in hepatic SCPx protein requires an insulin deficient environment

Lopez, D., Niesen, M. I., Bedi, M., & McLean, M. P. (2008) · Prostaglandins Leukotrienes and Essential Fatty Acids · doi:10.1016/j.plefa.2007.11.003 · Cited by 2

Peroxisomal Disorders

Poll‐The, B. T., & Wanders, R. J. A. (2014) · Springer eBooks · doi:10.1007/978-3-642-40337-8_24 · Cited by 2

Model Organisms for Understanding Peroxisomal Disorders

Takashima, S., & Shimozawa, N. (2019) · Springer eBooks · doi:10.1007/978-981-15-1169-1_6 · Cited by 2

Peroxisomal Disorders

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

Peroxisomal Disorders

Shimozawa, N. (2019) · Springer eBooks · doi:10.1007/978-981-15-1169-1_5 · Cited by 2

Seizure-Induced Hemoptysis in a Pediatric Patient

Nangia, R., Kahwaty, M., Sachdeva, A., & Kotwal, N. (2022) · Case Reports in Pediatrics · doi:10.1155/2022/6059007 · Cited by 1

Case report: Episodic psychosis caused by a novel SCP2 splicing mutation

Tang, H., Luo, Y., Tang, Z., Tang, J., & Fang, J. (2023) · Frontiers in Neurology · doi:10.3389/fneur.2023.1270793 · Cited by 1

Bile Acids

Ferdinandusse, S., & Vaz, F. M. (2024) · Springer eBooks · doi:10.1007/978-3-031-58819-8_14 · Cited by 1

Proteomic Studies of Various Organs and Tissues of the Frilled Shark Chlamydoselachus anguineus

Stekhoven, F. M. A. H. S., Lee, T., Wang, P.-J., Jang‐Liaw, N., Tanaka, S., & Bottrill, A. R. (2012) · Zoological studies · Cited by 1

Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders

Wanders, R. J. A., Aubourg, P. R., & Poll‐The, B. T. (2016) · Springer eBooks · doi:10.1007/978-3-662-49771-5_40 · Cited by 1

Neurodegeneration with brain iron accumulation

Schneider, S. A. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19176-3.00055-8 · Cited by 1

Enzymes, Metabolic Pathways, Flux Control Analysis, and the Enzymology of Specific Groups of Inherited Metabolic Diseases

Wanders, R. J. A., Poorthuis, B. J. H. M., & Rodenburg, R. J. (2009) · Springer eBooks · doi:10.1007/978-3-540-74723-9_29 · Cited by 1

Peroxisome Assembly, Degradation, and Disease

Kim, P. K. (2009) · doi:10.1002/9780470747919.ch13 · Cited by 1

Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of DiseasesPreprint

Asgari, M. A., Yutuc, E., Abdel‐Khalik, J., Crick, P. J., Morris, A. A. M., Jones, S. A., Ghosh, A., Curnock, R., Hart, C., Schöls, L. J., et al. (2025) · medRxiv · doi:10.1101/2025.06.23.25328695 · Cited by 1

Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies

Wanders, R. J. A. (2009) · Wiley eBooks · doi:10.1002/9781444314342.ch13

Peroxisomes in Humans: Metabolic Functions, Cross Talk with Other Organelles, and Pathophysiology of Peroxisomal Disorders

Wanders, R. J. A., Ferdinandusse, S., & Waterham, H. R. (2014) · Springer eBooks · doi:10.1007/978-3-7091-1788-0_3

Mechanisms of aging and development in the nematode caenorhabditis elegans

Chowdhury, S. (2008) · Spectrum Research Repository (Concordia University)

Bile acid abnormalities in peroxisomal disorders

Ferdinandusse, S., & Wanders, R. J. A. (2009) · Springer eBooks · doi:10.1007/978-1-4020-9644-0_33

Enzyme Diagnostics in a Changing World of Exome Sequencing and Newborn Screening as Exemplified for Peroxisomal, Mitochondrial, and Lysosomal Disorders

Wanders, R. J. A., Poorthuis, B. J. H. M., & Rodenburg, R. J. (2016) · Springer eBooks · doi:10.1007/978-3-662-49410-3_38

Пероксисомні біогенні порушення в спектрі синдрому Цельвегера: діагностика, моніторинг і лікування відповідно до рекомендацій глобальної фундації пероксисомних захворювань

Gonchar, М. О., Муратов, Г. Р., Логвінова, О. Л., Пушкарь, Е. М., Помазуновская, Е. П., Омельченко, Е. В., Шульга, Н. В., Galdinа, I. M., Zubko, A. S., & Стребуль, Н. В. (2018) · CHILD`S HEALTH · doi:10.22141/2224-0551.13.2.2018.129554

Lipidomics of Peroxisomal Disorders

Hama, K., Fujiwara, Y., & Yokoyama, K. (2019) · Springer eBooks · doi:10.1007/978-981-15-1169-1_11

Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies

Wanders, R. J. A., & Waterham, H. R. (2021) · doi:10.1002/9781119676980.ch24

Current World Literature

(2007) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3282efeb3b

Peroxisomale Krankheiten

Rosewich, H., & Gärtner, J. (2014) · Springer eBooks · doi:10.1007/978-3-642-45188-1_49

Maladies peroxysomales

de Lonlay, P., Dubois, S., Valayannopoulos, V., Depondt, E., Ottolenghi, C., & Rabier, D. (2013) · Springer eBooks · doi:10.1007/978-2-8178-0046-2_27

Peroxisome Biogenesis Disorders

Demers, N. D., & Kim, P. K. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.65924-x

Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies

Wanders, R. J. A. (2015) · Wiley eBooks · doi:10.1002/9781118981559.ch21

Peroxisome Assembly, Degradation, and Disease

Hua, R., & Kim, P. K. (2020) · doi:10.1002/9781119436812.ch12

Peroxisomal Disorders

Wanders, R. J. A., & Waterham, H. R. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-812535-9.00015-7 · Cited by 1

Peroxisomal Biomarkers

Vaz, F. M., & Wanders, R. J. A. (2024) · Springer eBooks · doi:10.1007/978-3-031-58819-8_8

The key role of gas chromatography-mass spectrometry and molecular genetic analysis methods in the diagnosis of peroxisomal disorders in children

Mamedov, I. S., Perevesentsev, O. A., & Krapivkin, A. I. (2024) · Laboratory Service · doi:10.17116/labs20241303117

Ocular Manifestations of Peroxisomal Disorders

Everett, L. A., & Pennesi, M. E. (2025) · Oxford University Press eBooks · doi:10.1093/med/9780197659403.003.0048

Additional file 1 of SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects

Galano, M., Ezzat, S., & Papadopoulos, V. (2022) · Figshare · doi:10.6084/m9.figshare.20552198

Identification de nouveaux gènes d'ataxies récessives syndromiques : implication des désordres métaboliques modérés

Guissart, C. (2016) · theses.fr (ABES) · doi:10.70675/d7bc59fezae20z4597zb197z7eb32251dfff

Analyse de la régulation de l'homéostasie des acides biliaires au sein des testicules

Holota, H. (2024) · theses.fr (ABES) · doi:10.70675/87a97831z9d93z48dazb8b7z8e7a929fc132

A brief history of the human liver peroxisome

Craemer, D. D., Branden, C. V. D., & Roels, F. (2026) · Histochemistry and Cell Biology · doi:10.1007/s00418-026-02495-5

OAF Blocks SIAH1‐Mediated Degradation of SCPX, a Therapeutic Strategy for MASLD

Li, Z., Song, J., Ma, K., Tang, S., Wang, S., Ji, W., Lu, C., Zhang, T., Zheng, H., Zheng, X., et al. (2026) · Advanced Science · doi:10.1002/advs.77451

Human peroxisomal disorders—laboratory diagnosis

Dasouki, M. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-41379-7.00019-6

SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects

Galano, M., Ezzat, S., & Papadopoulos, V. (2022) · Human Genomics · doi:10.1186/s40246-022-00408-w · Cited by 19

A Novel Human Heterozygous SCP2 Mutation Leads to Alterations in Lipid Metabolism

Galano, M., Ezzat, S., & Papadopoulos, V. (2022) · The FASEB Journal · doi:10.1096/fasebj.2022.36.s1.0r787 · Cited by 1

Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx): activity measurements in liver and fibroblasts using a newly developed method

Ferdinandusse, S., Denis, S. W., van Berkel, E., Dacremont, G., & Wanders, R. J. A. (2000) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)34472-2 · Cited by 39

Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene functionPreprint

Seedorf, U., Raabe, M., Ellinghaus, P., Kannenberg, F., Fobker, M., Engel, T., Denis, S. W., Wouters, F., WIRTZ, K. W. A., Wanders, R. J. A., et al. (1998) · Genes & Development · doi:10.1101/gad.12.8.1189 · Cited by 268

Functional Analysis of Sterol Carrier Protein-2 (SCP2) in the SCP2 Knockout Mouse

Seedorf, U. (1998) · Springer eBooks · doi:10.1007/978-1-4615-5113-3_15 · Cited by 6