Bose M., Yergeau C., D’Souza Y., Cuthbertson, D.D., Lopez, M.J., Smolen, A.K., Braverman, N.E. Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review. Cells. 2022;11(1891):1-26. https://www.mdpi.com/2073-4409/11/12/1891/htm 

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Cheung A., Argyriou C., Yergeau C., D'Souza Y., Riou E., Lévesque S., Raymond G., Daba M., Rtskhiladze I., Tkemaladze T., Adang L., La Piana R., Bernard G. and Braverman N.E. Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series. Neurogenetics. 2022;(0123456789). doi:10.1007/s10048-022-00684-7

 

Argyriou C., Polosa A., Song J.Y., Omri, S., Steele, B., Cécyre, B., McDougald D.S., Di Pietro, E., Bouchard, J., Bennett, J., Hacia, J.G., Lachappelle, P., Braverman, N.E. AAV-mediated PEX1 Gene Augmentation Improves Visual Function in the PEX1-Gly844Asp Mouse Model for Mild Zellweger Spectrum Disorder. Mol Ther - Methods Clin Dev. 2021;23(December):225-240. doi:10.1016/j.omtm.2021.09.002

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Lee, J., Yergeau, C., Kawai, K., Braverman, N., Géléoc, G. (2021) Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum, Ear and Hearing: September 15, 2021 -  doi: 10.1097/AUD.0000000000001126.

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Watkins, PA, Chen, L., Braverman, N. (2021). Peroxisomal Disorders, Chapter 37 in Liver Disease in Children, 5th edition 2021. Editors Frederick J. Suchy, Ronald J. Sokol, et al. Cambridge University Press. DOI: 10.1017/9781108918978

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Fallatah, W., Schouten, M., Yergeau, C., Di Pietro, E., Engelen, M., Waterham, H., Poll-The, B.T., Braverman, N. (2020). Clinical, biochemical and molecular characterization of mild (nonclassic) Rhizomelic Chondrodysplasia Punctata. Journal of Inherited Metabolic Disease. https://doi.org/10.1002/jimd.12349

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Braverman NE, Steinberg SJ, Fallatah W, Duker A, Bober M. (2020). Rhizomelic Chondrodysplasia Punctata Type 1. 2001 Nov 16 [updated 2020 Jan 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301447.

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Fallatah, W., Smith, T., Cui, W., Jayasinghe, D., Di Pietro, E., Ritchie, S. A., & Braverman, N. (2020). Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata. DMM Disease Models and Mechanisms, 13(1). https://doi.org/10.1242/dmm.042499 

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Argyriou, C., Polosa, A., Cecyre, B., Hsieh, M., Di Pietro, E., Cui, W., Bouchard, J., Lachapelle, P., Braverman, N. (2019). A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder. Experimental Eye Research, 186(March), 107713. https://doi.org/10.1016/j.exer.2019.107713

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MacLean, G. E., Argyriou, C., Di Pietro, E., Sun, X., Birjandian, S., Saberian, P., Hacia, J.G., Braverman, N. E. (2018). Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids. Journal of Cellular Biochemistry, (May). https://doi.org/10.1002/jcb.27591

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Dahabieh, M. S., Di Pietro, E., Jangal, M., Goncalves, C., Witcher, M., Braverman, N. E., & del Rincón, S. V. (2018). Peroxisomes and cancer: The role of a metabolic specialist in a disease of aberrant metabolism. Biochimica et Biophysica Acta - Reviews on Cancer, 1870(1), 103–121. https://doi.org/10.1016/j.bbcan.2018.07.004

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Law, K. B., Bronte-Tinkew, D., Di Pietro, E., Snowden, A., Jones, R. O., Moser, A., Brumella, J., Braverman, N.E., Kim, P. K. (2017). The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders. Autophagy, 13(5), 868–884. https://doi.org/10.1080/15548627.2017.1291470

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Hua, R., Cheng, D., Coyaud, É., Freeman, S., Di Pietro, E., Wang, Y., Vissa A, Yip CM, Fairn GD, Braverman N, Brumell JH, Trimble WS, Raught B, Kim PK. (2017). VAPs and ACBD5 tether peroxisomes to the ER for peroxisome maintenance and lipid homeostasis. Journal of Cell Biology, 216(2), 367–377. https://doi.org/10.1083/jcb.201608128

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Argyriou, C., D’Agostino, M. D., & Braverman, N. (2016). Peroxisome Biogenesis Disorders. Translational Science of Rare Diseases, 1, 111–144. https://doi.org/10.3233/978-1-61499-718-4-847

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Braverman, N. E., D’Agostino, M. D., & MacLean, G. E. (2013). Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Developmental Disabilities Research Reviews, 17(3), 187–196. https://doi.org/10.1002/ddrr.1113

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Matos-Miranda, C., Nimmo, G., Williams, B., Tysoe, C., Owens, M., Bale, S., & Braverman, N. (2013). A prospective study of brachytelephalangic chondrodysplasia punctata: Identification of arylsulfatase e mutations, functional analysis of novel missense alleles, and determination of potential phenocopies. Genetics in Medicine, 15(8), 650–657. https://doi.org/10.1038/gim.2013.13

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Levesque, S., Morin, C., Guay, S. P., Villeneuve, J., Marquis, P., Yik, W. Y., Jiralerspong S., Bouchard L., Steinberg, S., Hacia, J.G., Dewar, K., Braverman, N. E. (2012). A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. BMC Medical Genetics, 13, 2–9. https://doi.org/10.1186/1471-2350-13-72

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Itzkovitz, B., Jiralerspong, S., Nimmo, G., Loscalzo, M., Horovitz, D. D. G., Snowden, A., Moser, A., Steinberg, S., Braverman, N. (2012). Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. Human Mutation, 33(1), 189–197. https://doi.org/10.1002/humu.21623

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Dranchak, P. K., Pietro, E. Di, Snowden, A., Oesch, N., Braverman, N. E., Steinberg, S. J., & Hacia, J. G. (2011). Nonsense Suppressor Therapies Rescue Peroxisome Lipid Metabolism and Assembly in Cells From Patients With Specific PEX Gene Mutations. Journal of Cellular Biochemistry, 112(November 2010), 1250–1258. https://doi.org/10.1002/jcb.22979

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Wood, P. L., Khan, M. A., Smith, T., Ehrmantraut, G., Jin, W., Cui, W., Braverman, N.E., Goodenowe, D. B. (2011). In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor. Lipids in Health and Disease, 10, 1–7. https://doi.org/10.1186/1476-511X-10-182

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Alfares, A., Nunez, L. D., Al-Thihli, K., Mitchell, J., Melançon, S., Anastasio, N., Ha, K.C.H., Majewski, J., Rosenblatt, D.S., Braverman, N. (2011). Combined malonic and methylmalonic aciduria: Exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. Journal of Medical Genetics, 48(9), 602–605. https://doi.org/10.1136/jmedgenet-2011-100230

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Nimmo, G., Monsonego, S., Descartes, M., Franklin, J., Steinberg, S., & Braverman, N. (2010). Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. American Journal of Medical Genetics, Part A, 152(7), 1812–1817. https://doi.org/10.1002/ajmg.a.33489

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Zhang, R., Chen, L., Jiralerspong, S., Snowden, A., Steinberg, S., & Braverman, N. (2010). Recovery of PEX1-gly843Asp peroxisome dysfunction by small-molecule compounds. Proceedings of the National Academy of Sciences of the United States of America, 107(12), 5569–5574. https://doi.org/10.1073/pnas.0914960107

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Braverman, N., Zhang, R., Chen, L., Nimmo, G., Scheper, S., Tran, T., Chaudhury, R., Moser, A., Steinberg, S. (2010). A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton. Molecular Genetics and Metabolism, 99(4), 408–416. https://doi.org/10.1016/j.ymgme.2009.12.005

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Phadke, S. R., Gupta, N., Girisha, K. M., Kabra, M., Maeda, M., Vidal, E., Moser, A., Steinberg S., Puri RD., Verma IC., Braverman, N. (2010). Rhizomelic chondrodysplasia punctata type 1: Report of mutations in 3 children from India. Journal of Applied Genetics, 51(1), 107–110. https://doi.org/10.1007/BF03195717

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Steinberg, S. J., Snowden, A., Braverman, N. E., Chen, L., Watkins, P. A., Clayton, P. T., Setchell, K.D.R., Heubi, J.E., Raymond, G.V., Moser, A.B., Moser, H. W. (2009). A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. Journal of Inherited Metabolic Disease, 32, 109–119. https://doi.org/10.1007/s10545-008-0969-8 

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Nino, M., Matos-Miranda, C., Maeda, M., Chen, L., Allanson, J., Armour, C., Greene C., Kamaluddeen M., Rita D., Medne L., Zackai E., Mansour S., Superti-Furga A., Lewanda A., Bober M., Rosenbaum K., Braverman, N. (2008). Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. American Journal of Medical Genetics Part A, 146A(8), 997–1008. https://doi.org/10.1002/ajmg.a.32159

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Steinberg, S., Chen, L., Wei, L., Moser, A., Moser, H., Cutting, G., & Braverman, N. (2004). The PEX Gene Screen: Molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. Molecular Genetics and Metabolism, 83(3), 252–263. https://doi.org/10.1016/j.ymgme.2004.08.008

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Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty P.K., Clarke J.T., Boneh A., Moser A., Moser, H., Valle, D. (2002). Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Human Mutation, 20(4), 284–297. https://doi.org/10.1002/humu.10124
 

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Underlined and bold names are authors from our laboratory.