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

Peroxisomal β-oxidation—A metabolic pathway with multiple functions

Poirier, Y., Antonenkov, V. D., Glumoff, T., & Hiltunen, J. K. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.08.034 · Cited by 497

Human disorders of peroxisome metabolism and biogenesis

Waterham, H. R., Ferdinandusse, S., & Wanders, R. J. A. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.11.015 · Cited by 384

Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum

Wanders, R. J. A., Waterham, H. R., & Ferdinandusse, S. (2016) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2015.00083 · Cited by 366

Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism

Veldhoven, P. P. V. (2010) · Journal of Lipid Research · doi:10.1194/jlr.r005959 · Cited by 341

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Braverman, N. E., Raymond, G. V., Rizzo, W. B., Moser, A. B., Wilkinson, M. E., Stone, E. M., Steinberg, S. J., Wangler, M. F., Rush, E. T., Hacia, J. G., et al. (2016) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.12.009 · Cited by 281

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

Metabolic functions of peroxisomes in health and disease

Wanders, R. J. A. (2013) · Biochimie · doi:10.1016/j.biochi.2013.08.022 · Cited by 232

The physiological functions of human peroxisomes

Wanders, R. J. A., Baes, M., Ribeiro, D., Ferdinandusse, S., & Waterham, H. R. (2023) · Physiological Reviews · doi:10.1152/physrev.00051.2021 · Cited by 228

Fatty acid omega‐oxidation as a rescue pathway for fatty acid oxidation disorders in humans

Wanders, R. J. A., Komen, J. C., & Kemp, S. (2010) · FEBS Journal · doi:10.1111/j.1742-4658.2010.07947.x · Cited by 230

Iron imbalance in neurodegeneration

Levi, S., Ripamonti, M., Moro, A., & Cozzi, A. (2024) · Molecular Psychiatry · doi:10.1038/s41380-023-02399-z · Cited by 189

Peroxisomes in brain development and function

Berger, J., Dorninger, F., Forss-Petter, S., & Kunze, M. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.12.005 · Cited by 194

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Haugarvoll, K., Johansson, S., Tzoulis, C., Haukanes, B. I., Bredrup, C., Neckelmann, G., Boman, H., Knappskog, P. M., & Bindoff, L. A. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-1 · Cited by 181

Peroxisomes, lipid metabolism and lipotoxicity

Wanders, R. J. A., Ferdinandusse, S., Brites, P., & Kemp, S. (2010) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2010.01.001 · Cited by 169

Bile acid analysis in human disorders of bile acid biosynthesis

Vaz, F. M., & Ferdinandusse, S. (2017) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2017.03.003 · Cited by 155

Bile acids: the role of peroxisomes

Ferdinandusse, S., Denis, S. W., Faust, P. L., & Wanders, R. J. A. (2009) · Journal of Lipid Research · doi:10.1194/jlr.r900009-jlr200 · Cited by 137

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Ferdinandusse, S., Jimenez-Sanchez, G., Koster, J., Denis, S., Van Roermund, C. W., Silva-Zolezzi, I., Moser, A. B., Visser, W. F., Gulluoglu, M., Durmaz, O., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddu448 · Cited by 134

Peroxisome biogenesis disorders

Argyriou, C., D’Agostino, D., & Braverman, N. (2016) · Translational Science of Rare Diseases · doi:10.3233/trd-160003 · Cited by 129

Peroxisomes and bile acid biosynthesis

Ferdinandusse, S., & Houten, S. M. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.09.001 · Cited by 113

Oxysterols as lipid mediators: Their biosynthetic genes, enzymes and metabolites

Griffiths, W. J., & Wang, Y. (2019) · Prostaglandins & Other Lipid Mediators · doi:10.1016/j.prostaglandins.2019.106381 · Cited by 106

Sterol carrier protein-2: New roles in regulating lipid rafts and signaling

Schroeder, F., Atshaves, B. P., McIntosh, A. L., Gallegos, A. M., Storey, S. M., Parr, R. D., Jefferson, J. R., Ball, J. M., & Kier, A. B. (2007) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2007.04.005 · Cited by 97

Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition

Levi, S., & Tiranti, V. (2019) · Pharmaceuticals · doi:10.3390/ph12010027 · Cited by 90

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders

Poll-The, B. T., & Gärtner, J. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.03.011 · Cited by 85

Classification and molecular pathogenesis of NBIA syndromes

Meo, I. D., & Tiranti, V. (2018) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2018.01.008 · Cited by 75

Peroxisomal disorders

Aubourg, P. R., & Wanders, R. J. A. (2013) · Handbook of clinical neurology · doi:10.1016/b978-0-444-59565-2.00028-9 · Cited by 75

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

Sedel, F., Saudubray, J., Roze, E. F., Agid, Y., & Vidailhet, M. (2008) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-008-0854-5 · Cited by 75

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

McMillan, H. J., Worthylake, T., Schwartzentruber, J., Gottlieb, C., Lawrence, S. E., MacKenzie, A., Beaulieu, C. L., Mooyer, P. A. W., Wanders, R. J. A., Majewski, J., et al. (2012) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-7-90 · Cited by 74

Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders

Wanders, R. J. A., Vaz, F. M., Waterham, H. R., & Ferdinandusse, S. (2020) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-60204-8_5 · Cited by 76

MRI of neurodegeneration with brain iron accumulation

Lehéricy, S., Roze, E. F., Goizet, C., & Mochel, F. (2020) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000844 · Cited by 65

Hepatic dysfunction in peroxisomal disorders

Baes, M. I., & Veldhoven, P. P. V. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.09.035 · Cited by 64

ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia

Monte, M. J., Alonso‐Peña, M., Briz, Ó., Herráez, E., Berasain, C., Argemí, J., Prìeto, J., & Marı́n, J. J. G. (2016) · Journal of Hepatology · doi:10.1016/j.jhep.2016.11.005 · Cited by 65

Neurodegeneration with Brain Iron Accumulation

Schneider, S. A. (2016) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-015-0608-3 · Cited by 61

Role of STAR and SCP2/SCPx in the Transport of Cholesterol and Other Lipids

Galano, M., Venugopal, S., & Papadopoulos, V. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232012115 · Cited by 60

Molecular and clinical aspects of peroxisomal diseases

Shimozawa, N. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0516-z · Cited by 53

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

Ferdinandusse, S., Ebberink, M. S., Vaz, F. M., Waterham, H. R., & Wanders, R. J. A. (2016) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-016-9922-4 · Cited by 51

The sterol carrier protein 2/3-oxoacyl-CoA thiolase (SCPx) is involved in cholesterol uptake in the midgut of Spodoptera litura: gene cloning, expression, localization and functional analyses

Guo, X., Zheng, S.-C., Liu, L., & Feng, Q.-L. (2009) · BMC Molecular Biology · doi:10.1186/1471-2199-10-102 · Cited by 49

SCP2 mutations and neurodegeneration with brain iron accumulation

Horváth, R., Lewis‐Smith, D., Douroudis, K., Duff, J., Keogh, M. J., Pyle, A., Fletcher, N. A., & Chinnery, P. F. (2015) · Neurology · doi:10.1212/wnl.0000000000002157 · Cited by 47

Differential diagnosis in patients with suspected bile acid synthesis defects

Haas, D. (2012) · World Journal of Gastroenterology · doi:10.3748/wjg.v18.i10.1067 · Cited by 47

Role of peroxisomes in human lipid metabolism and its importance for neurological development

Wanders, R. J. A., & Poll-The, B. T. (2017) · Neuroscience Letters · doi:10.1016/j.neulet.2015.06.018 · Cited by 46

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 46

An adult onset case of alpha‐methyl‐acyl‐CoA racemase deficiency

Smith, E. H., Gavrilov, D. K., Oglesbee, D., Freeman, W. D., Vavra, M. W., Matern, D., & Tortorelli, S. (2010) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-010-9183-6 · Cited by 44

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases

Kolářová, H., Tan, J., Strom, T. M., Meitinger, T., Wagner, M., & Klopstock, T. (2022) · EBioMedicine · doi:10.1016/j.ebiom.2022.103869 · Cited by 42

Movement disorders in neuro-metabolic diseases

Gouider‐Khouja, N., Kraoua, I., Benrhouma, H., Fraj, N., & Rouissi, A. (2009) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2009.11.005 · Cited by 41

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

Intracellular cholesterol-binding proteins enhance HDL-mediated cholesterol uptake in cultured primary mouse hepatocytes

Storey, S. M., McIntosh, A. L., Huang, H., Landrock, K. K., Martin, G. G., Landrock, D., Payne, H. R., Atshaves, B. P., Kier, A. B., & Schroeder, F. (2012) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.00195.2011 · Cited by 36

On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation

Tello, C., Darling, A., Lupo, V., Pérez‐Dueñas, B., & Espinós, C. (2017) · Clinical Genetics · doi:10.1111/cge.13057 · Cited by 34

Loss of L-FABP, SCP-2/SCP-x, or both induces hepatic lipid accumulation in female mice

Martin, G. G., Atshaves, B. P., Landrock, K. K., Landrock, D., Schroeder, F., & Kier, A. B. (2015) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2015.06.009 · Cited by 33

Impact of SCP-2/SCP-x gene ablation and dietary cholesterol on hepatic lipid accumulation

Klipsic, D., Landrock, D., Martin, G. G., McIntosh, A. L., Landrock, K. K., Mackie, J. T., Schroeder, F., & Kier, A. B. (2015) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.00460.2014 · Cited by 34

Overexpression of sterol carrier protein-2 differentially alters hepatic cholesterol accumulation in cholesterol-fed mice

Atshaves, B. P., McIntosh, A. L., Martin, G. G., Landrock, D., Payne, H. R., Bhuvanendran, S., Landrock, K. K., Lyuksyutova, O. I., Johnson, J. D., Macfarlane, R. D., et al. (2009) · Journal of Lipid Research · doi:10.1194/jlr.m900020-jlr200 · Cited by 33

Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Biase, I. D., Tortorelli, S., Kratz, L. E., Steinberg, S. J., Cusmano‐Ozog, K. P., & Braverman, N. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0713-9 · Cited by 35

Neurodegeneration with brain iron accumulation

Batla, A., & Gaddipati, C. (2019) · Annals of Indian Academy of Neurology · doi:10.4103/aian.aian_481_18 · Cited by 33

Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy

Teoh, H. L., Carey, K. A., Sampaio, H. A., Mowat, D. R., Roscioli, T., & Farrar, M. A. (2017) · Neural Plasticity · doi:10.1155/2017/6509493 · Cited by 32

Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases

Shimozawa, N. (2011) · Brain and Development · doi:10.1016/j.braindev.2011.03.004 · Cited by 31

Lipid signalling couples translational surveillance to systemic detoxification in Caenorhabditis elegans

Govindan, J. A., Jayamani, E., Zhang, X. L., Breen, P. C., Larkins‐Ford, J., Mylonakis, E. E., & Ruvkun, G. (2015) · Nature Cell Biology · doi:10.1038/ncb3229 · Cited by 29

Clinical and Laboratory Diagnosis of Peroxisomal Disorders

Wanders, R. J. A., Klouwer, F. C. C., Ferdinandusse, S., Waterham, H. R., & Poll‐The, B. T. (2017) · Methods in molecular biology · doi:10.1007/978-1-4939-6937-1_30 · Cited by 30

Loss of Enzymes in the Bile Acid Synthesis Pathway Explains Differences in Bile Composition among Mammals

Sharma, V., & Hiller, M. (2018) · Genome Biology and Evolution · doi:10.1093/gbe/evy243 · Cited by 29

Caveolin, Sterol Carrier Protein-2, Membrane Cholesterol-Rich Microdomains and Intracellular Cholesterol Trafficking

Schroeder, F., Huang, H., McIntosh, A. L., Atshaves, B. P., Martin, G. G., & Kier, A. B. (2010) · Sub-cellular biochemistry/Subcellular biochemistry · doi:10.1007/978-90-481-8622-8_10 · Cited by 29

A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders

Ortigoza‐Escobar, J. D. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.582160 · Cited by 29

Metabolic neuropathies and myopathies

D’Amico, A., & Bertini, E. (2013) · Handbook of clinical neurology · doi:10.1016/b978-0-444-59565-2.00013-7 · Cited by 28

The characterization and evolutionary relationships of a trypanosomal thiolase

Mazet, M., Harijan, R. K., Kiema, T. R., Haapalainen, A. M., Morand, P., Morales, J., Bringaud, F., Wierenga, R. K., & Michels, P. A. M. (2011) · International Journal for Parasitology · doi:10.1016/j.ijpara.2011.07.009 · Cited by 24

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

Sterol carrier protein-x gene and effects of sterol carrier protein-2 inhibitors on lipid uptake in Manduca sexta

Kim, M., & Lan, Q. (2010) · BMC Physiology · doi:10.1186/1472-6793-10-9 · Cited by 22

Iron Pathophysiology in Neurodegeneration with Brain Iron Accumulation

Levi, S., Cozzi, A., & Santambrogio, P. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-9589-5_9 · Cited by 21

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

The peroxisomal zebrafish SCP2-thiolase (type-1) is a weak transient dimer as revealed by crystal structures and native mass spectrometry

Kiema, T., Thapa, C. J., Laitaoja, M., Schmitz, W., Maksimainen, M. M., Fukao, T., Rouvinen, J., Jänis, J., & Wierenga, R. K. (2018) · Biochemical Journal · doi:10.1042/bcj20180788 · Cited by 18

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

Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran

Hajati, R., Emamikhah, M., Fard, F. D., Rohani, M., & Alavi, A. (2021) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/cjn.2021.124 · Cited by 17

Disorders of fatty acid homeostasis

Vaz, F. M., Ferdinandusse, S., Salomons, G. S., & Wanders, R. J. A. (2024) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12734 · Cited by 16

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

Primary dystonias and genetic disorders with dystonia as clinical feature of the disease

Moghimi, N., Jabbari, B., & Szekely, A. M. (2013) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2013.05.015 · Cited by 16

Ablating both Fabp1 and Scp2/Scpx (TKO) induces hepatic phospholipid and cholesterol accumulation in high fat-fed mice

Milligan, S., Martin, G. G., Landrock, D., McIntosh, A. L., Mackie, J. T., Schroeder, F., & Kier, A. B. (2018) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2017.12.013 · Cited by 16

Intracellular cholesterol transport proteins enhance hydrolysis of HDL-CEs and facilitate elimination of cholesterol into bile

Wang, J., Bie, J., & Ghosh, S. (2016) · Journal of Lipid Research · doi:10.1194/jlr.m069682 · Cited by 15

Impact of dietary phytol on lipid metabolism in SCP2/SCPX/L-FABP null mice

Milligan, S., Martin, G. G., Landrock, D., McIntosh, A. L., Mackie, J. T., Schroeder, F., & Kier, A. B. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2016.12.002 · Cited by 14

Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran

Mohseni, M., Babanejad, M., Booth, K. T. A., Jamali, P., Jalalvand, K., Davarnia, B., Ardalani, F., Khoshaeen, A., Arzhangi, S., Ghodratpour, F., et al. (2021) · Clinical Genetics · doi:10.1111/cge.13956 · Cited by 12

MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders

Wong, A. D., Zhou, A., Cao, X., Mahaganapathy, V., Azaro, M. A., Gwin, C., Wilson, S., Buyske, S. G., Bartlett, C. W., Flax, J. F., et al. (2022) · Genes · doi:10.3390/genes13081329 · Cited by 14

Inborn errors of bile acid metabolism in Japan

Mizuochi, T., Takei, H., Nittono, H., & Kimura, A. (2023) · Pediatrics International · doi:10.1111/ped.15490 · Cited by 12

Perturbed rhythmic activation of signaling pathways in mice deficient for Sterol Carrier Protein 2-dependent diurnal lipid transport and metabolism

Jouffe, C., Gobet, C., Martín, E., Métairon, S., Morin‐Rivron, D., Masoodi, M., & Gachon, F. (2016) · Scientific Reports · doi:10.1038/srep24631 · Cited by 13

Differences in the Structure and Dynamics of the Apo- and Palmitate-ligated Forms of Aedes aegypti Sterol Carrier Protein 2 (AeSCP-2)

Singarapu, K. K., Radek, J. T., Tonelli, M., Markley, J. L., & Lan, Q. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.101154 · Cited by 11

How to detect late-onset inborn errors of metabolism in patients with movement disorders – A modern diagnostic approach

Koens, L. H., de Vries, J. J., Vansenne, F., de Koning, T. J., & Tijssen, M. A. J. (2021) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2021.02.029 · Cited by 11

An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2

Morarji, J., Gillespie, R. L., Sergouniotis, P. I., Horváth, R., & Black, G. C. M. (2016) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2016.4985 · Cited by 11

Peroxisomal disorders

Dasouki, M. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-802896-4.00007-9 · Cited by 11

Very-Long-Chain Fatty Acids and Phytanic Acid

Wanders, R. J. A., & Durán, M. (2008) · Springer eBooks · doi:10.1007/978-3-540-76698-8_12 · Cited by 10

Crystal structure of the zebrafish peroxisomal SCP2-thiolase (type-1)

Wierenga, R. K., Kiema, T. R., & Thapa, C. J. (2018) · Worldwide Protein Data Bank · doi:10.2210/pdb6hrv/pdb · Cited by 10

Sterol carrier protein 2 regulates proximal tubule size in the Xenopus pronephric kidney by modulating lipid rafts

Cerqueira, D. M., Tran, U., Romaker, D., Abreu, J. G., & Wessely, O. (2014) · Developmental Biology · doi:10.1016/j.ydbio.2014.07.025 · Cited by 9

Sterol Carrier Protein‐2/Sterol Carrier Protein‐x/Fatty Acid Binding Protein‐1 Ablation Impacts Response of Brain Endocannabinoid to High‐Fat Diet

Martin, G. G., Seeger, D. R., McIntosh, A. L., Milligan, S., Chung, S., Landrock, D., Dangott, L. J., Golovko, M. Y., Murphy, E. J., Kier, A. B., et al. (2019) · Lipids · doi:10.1002/lipd.12192 · Cited by 9

Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan

Takashima, S., Saitsu, H., & Shimozawa, N. (2018) · Journal of Human Genetics · doi:10.1038/s10038-018-0512-1 · Cited by 9

Human Disorders of Peroxisome Biogenesis: Zellweger Spectrum and Rhizomelic Chondrodysplasia Punctata

Braverman, N., Argyriou, C., & Moser, A. B. (2014) · Springer eBooks · doi:10.1007/978-3-7091-1788-0_4 · Cited by 7

Structural and enzymological studies of the thiolase enzymes

Meriläinen, G. (2009) · Cited by 7

Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice

Morita, M., Honda, A., Kobayashi, A., Watanabe, Y., Watanabe, S., Kawaguchi, K., Takashima, S., Shimozawa, N., & Imanaka, T. (2017) · JIMD Reports · doi:10.1007/8904_2017_32 · Cited by 6

Laboratory Diagnosis of Peroxisomal Disorders in the -Omics Era and the Continued Importance of Biomarkers and Biochemical Studies

Wanders, R. J. A., Vaz, F. M., Ferdinandusse, S., Kemp, S., Ebberink, M. S., & Waterham, H. R. (2018) · Journal of Inborn Errors of Metabolism and Screening · doi:10.1177/2326409818810285 · Cited by 6

Movement Disorders and Inherited Metabolic Disorders

(2020) · Cambridge University Press eBooks · doi:10.1017/9781108556767 · Cited by 6

Peroxisomal Alterations in Prostate Cancer: Metabolic Shifts and Clinical Relevance

Hussein, M. A. F., Lismont, C., Li, H., Chai, R., Claessens, F., & Fransen, M. (2025) · Cancers · doi:10.3390/cancers17132243 · Cited by 6

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis

Clayton, P. T., Hirachan, R., & Murphy, E. (2025) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.70081 · Cited by 5

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series

Cheung, A., Argyriou, C., Yergeau, C., D’Souza, Y., Riou, É., Lévesque, S., Raymond, G. V., Daba, M., Rtskhiladze, I., Tkemaladze, T., et al. (2022) · Neurogenetics · doi:10.1007/s10048-022-00684-7 · Cited by 5

Choroby peroksysomalne

Stradomska, T. J. (2010) · Pediatria Polska · doi:10.1016/s0031-3939(10)70071-8 · Cited by 5

Cholestasis associated to inborn errors in bile acid synthesis

Espinosa-Escudero, R. A., Herráez, E., Sánchez-Martín, A., Sanchon-Sanchez, P., Marı́n, J. J. G., & Monte, M. J. (2022) · Exploration of Digestive Diseases · doi:10.37349/edd.2022.00010 · Cited by 5

Peroxisomal Disorders in Children

Watkins, P. A., Chen, L., & Braverman, N. (2021) · Cambridge University Press eBooks · doi:10.1017/9781108918978.037 · Cited by 5

Tandem mass spectrometry of serum cholestanoic (C27) acids – Typical concentration ranges and application to the study of peroxisomal biogenesis disorders

Zhang, W., Narváez-Rivas, M., & Setchell, K. D. R. (2024) · Journal of Mass Spectrometry and Advances in the Clinical Lab · doi:10.1016/j.jmsacl.2024.10.005 · Cited by 4

Sex-dependent impact of Scp-2/Scp-x gene ablation on hepatic phytol metabolism

McIntosh, A. L., Storey, S. M., Huang, H., Kier, A. B., & Schroeder, F. (2017) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2017.10.011 · Cited by 4

Peroxisomal Disorders

Raymond, G. V., Watkins, P. A., Steinberg, S. J., & Powers, J. (2009) · Springer eBooks · doi:10.1007/978-0-387-30378-9_26 · Cited by 4

Peroxisomal Disorders

Pennesi, M. E., & Weleber, R. G. (2012) · Oxford University Press eBooks · doi:10.1093/med/9780195326147.003.0044 · Cited by 4

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