Research & Literature

Unique double-ring structure of the peroxisomal Pex1/Pex6 ATPase complex revealed by cryo-electron microscopy.

Blok NB, Tan D, Wang RY, et al.

Proceedings of the National Academy of Sciences of the United States of America 2015; (112(30)):E4017-25 doi:10.1073/pnas.1500257112.

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Ratbi I, Falkenberg KD, Sommen M, et al.

American journal of human genetics 2015; (97(4)):535-45.

Zellweger spectrum disorders: clinical overview and management approach.

Klouwer FC, Berendse K, Ferdinandusse S, et al.

Orphanet journal of rare diseases 2015; (10()):151 doi:10.1186/s13023-015-0368-9.

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

Braverman NE, Raymond GV, Rizzo WB, et al.

Molecular genetics and metabolism 2016; (117(3)):313-21.

Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease.

Matsunami M, Shimozawa N, Fukuda A, et al.

Pediatrics 2016; (137(6)).

Development and validation of a severity scoring system for Zellweger spectrum disorders.

Klouwer FCC, Meester-Delver A, Vaz FM, et al.

Clinical genetics 2018; (93(3)):613-621 doi:10.1111/cge.13130.

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.

Wangler MF, Hubert L, Donti TR, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(10)):1274-1283 doi:10.1038/gim.2017.262.

Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease).

Warren M, Mierau G, Wartchow EP, et al.

Ultrastructural pathology 2018; (42(3)):220-227 doi:10.1080/01913123.2018.1440272.

Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes.

Soliman K, Göttfert F, Rosewich H, et al.

Scientific reports 2018; (8(1)):7809 doi:10.1038/s41598-018-24119-2.

Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.

Subhashini P, Jaya Krishna S, Usha Rani G, et al.

Journal of biochemistry 2019; (165(1)):67-73 doi:10.1093/jb/mvy085.

Long-Term Cholic Acid Treatment in a Patient with Zellweger Spectrum Disorder.

Heubi JE, Bishop WP

Case reports in gastroenterology 2018; (12(3)):661-670 doi:10.1159/000494555.

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Alshenaifi J, Ewida N, Anazi S, et al.

Clinical genetics 2019; (95(2)):310-319 doi:10.1111/cge.13481.

Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders.

Zhang C, Zhan FX, Tian WT, et al.

Clinical neurology and neurosurgery 2019; (177()):92-96 doi:10.1016/j.clineuro.2019.01.004.

The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.

Klouwer FCC, Koot BGP, Berendse K, et al.

Journal of inherited metabolic disease 2019; (42(2)):303-312 doi:10.1002/jimd.12042.

Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study.

Bose M, Mahadevan M, Schules DR, et al.

Molecular genetics and metabolism reports 2019; (19()):100459 doi:10.1016/j.ymgmr.2019.100459.

Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools.

Vasiljevic E, Ye Z, Pavelec DM, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(9)):1969-1976 doi:10.1038/s41436-019-0468-3.

Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder.

Berendse K, Koot BGP, Klouwer FCC, et al.

Journal of inherited metabolic disease 2019; (42(5)):955-965 doi:10.1002/jimd.12132.

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.

Lipiński P, Stawiński P, Rydzanicz M, et al.

Journal of applied genetics 2020; (61(1)):87-91 doi:10.1007/s13353-019-00523-w.

Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders.

Jaspers YRJ, Ferdinandusse S, Dijkstra IME, et al.

Frontiers in cell and developmental biology 2020; (8()):690 doi:10.3389/fcell.2020.00690.

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders.

Stradomska TJ, Syczewska M, Jamroz E, et al.

PloS one 2020; (15(9)):e0238796 doi:10.1371/journal.pone.0238796.

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review.

Lee W, Costain G, Blaser S, et al.

Molecular genetics and metabolism reports 2020; (25()):100664 doi:10.1016/j.ymgmr.2020.100664.

Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers.

Bose M, Cuthbertson DD, Fraser MA, et al.

Molecular genetics and metabolism reports 2020; (25()):100694 doi:10.1016/j.ymgmr.2020.100694.

High Dose Versus Low Dose Syngeneic Hepatocyte Transplantation in Pex1-G844D NMRI Mouse Model is Safe but Does Not Achieve Long Term Engraftment.

Demaret T, Evraerts J, Ravau J, et al.

Cells 2020; (10(1)) doi:10.3390/cells10010040.

Peroxisome: Metabolic Functions and Biogenesis.

Okumoto K, Tamura S, Honsho M, Fujiki Y

Advances in experimental medicine and biology 2020; (1299()):3-17 doi:10.1007/978-3-030-60204-8_1.

Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome.

Alamatsaz M, Jalalypour F, Hashemi MS, et al.

Journal of cellular biochemistry 2021; doi:10.1002/jcb.29945.

A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.

Lee J, Yergeau C, Kawai K, et al.

Ear and hearing 2022; (43(2)):582-591 doi:10.1097/AUD.0000000000001126.

Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.

Elghawy O, Zhang AY, Duong R, et al.

Case reports in ophthalmological medicine 2021; (2021()):1345937 doi:10.1155/2021/1345937.

AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder.

Argyriou C, Polosa A, Song JY, et al.

Molecular therapy. Methods & clinical development 2021; (23()):225-240 doi:10.1016/j.omtm.2021.09.002.

How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?

Kwong A, Ho CYS, Shin VY, et al.

BMC medical genomics 2022; (15(1)):122 doi:10.1186/s12920-022-01270-4.

Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis.

Judy RM, Sheedy CJ, Gardner BM

Cells 2022; (11(13)) doi:10.3390/cells11132067.

Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates.

Kawai H, Takashima S, Ohba A, et al.

Brain & development 2023; (45(1)):58-69 doi:10.1016/j.braindev.2022.10.001.

Challenges in periodic revision of genetic testing results: Comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 variants of uncertain significance.

Andreis TF, de Souza KIW, Vieira IA, et al.

Gene 2023; (862()):147281 doi:10.1016/j.gene.2023.147281.

Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review.

Su L, Peng MZ, Chen XD, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2315 doi:10.1002/mgg3.2315.

The N1 domain of the peroxisomal AAA-ATPase Pex6 is required for Pex15 binding and proper assembly with Pex1.

Ali BA, Judy RM, Chowdhury S, et al.

The Journal of biological chemistry 2024; (300(1)):105504 doi:10.1016/j.jbc.2023.105504.

Liver Transplantation for Zellweger Syndrome.

Menon J, Shanmugam N, Vij M, et al.

Indian journal of pediatrics 2024; (91(5)):507-509 doi:10.1007/s12098-023-04937-7.

[Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review].

Yang P, Zeng CZ, Tao XW, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2024; (62(1)):43-48 doi:10.3760/cma.j.cn112140-20230914-00191.

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.

Georgiou M, Robson AG, Fujinami K, et al.

Progress in retinal and eye research 2024; (100()):101244 doi:10.1016/j.preteyeres.2024.101244.

Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders.

Morales-Romero B, González de Aledo-Castillo JM, Fernández Sierra C, et al.

Journal of lipid research 2024; (65(3)):100516 doi:10.1016/j.jlr.2024.100516.

Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder.

Karuntu JS, Klouwer FCC, Engelen M, Boon CJF

Ophthalmic genetics 2024; (45(4)):351-362 doi:10.1080/13816810.2024.2330389.

Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report.

Shirvan BB, Ahangari N, Rezaie R, et al.

BMC pediatrics 2024; (24(1)):778 doi:10.1186/s12887-024-05246-4.

Distinguishing PEX gene variant severity for mild, severe, and atypical peroxisome biogenesis disorders in Drosophila.

Gomez VA, Kanca O, Jangam SV, et al.

bioRxiv : the preprint server for biology 2024; doi:10.1101/2024.11.14.623590.

Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations.

Lee BJH, Sun CZY, Ong CJT, et al.

Taiwan journal of ophthalmology 2024; (14(4)):486-496 doi:10.4103/tjo.TJO-D-24-00066.

Role of peroxisomes in the pathogenesis and therapy of renal fibrosis.

Zhang D, Zhang YH, Liu B, et al.

Metabolism: clinical and experimental 2025; (166()):156173 doi:10.1016/j.metabol.2025.156173.

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.

Cheung ACT, Di Pietro E, Argyriou C, et al.

Molecular genetics and metabolism 2025; (145(1)):109080 doi:10.1016/j.ymgme.2025.109080.

PEX1G843D remains functional in peroxisome biogenesis but is rapidly degraded by the proteasome.

Sheedy CJ, Chowdhury SP, Ali BA, et al.

The Journal of biological chemistry 2025; (301(5)):108467 doi:10.1016/j.jbc.2025.108467.

Comparison of Caregiver-Reported Dietary Intake Methods in Zellweger Spectrum Disorder.

Bose M, von Thun NL, Kerrihard AL, et al.

Nutrients 2025; (17(6)) doi:10.3390/nu17060989.

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

Clayton PT, Hirachan R, Murphy E

Journal of inherited metabolic disease 2025; (48(5)):e70081 doi:10.1002/jimd.70081.

Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder.

Tharakan RM, Rajwal S, Schwahn BC

JIMD reports 2025; (66(5)):e70026 doi:10.1002/jmd2.70026.

Identification of novel pathogenic variants in the PHYH gene and extending the phenotypic range in Refsum disease.

Gregory-Evans CY, Lehman A, Mattman A, et al.

Ophthalmic genetics 2026; (47(3)):283-286 doi:10.1080/13816810.2025.2591819.

Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and updated literature review.

Su J, Tao Y, Zhang L, Luo J

BMC pediatrics 2026; (26(1)):81 doi:10.1186/s12887-025-06472-0.