PMC Articles for MedGen (Select 330407) - PMC

Nancy E. Braverman, Gerald V. Raymond, William B. Rizzo, Ann B. Moser, Mark E. Wilkinson, Edwin M. Stone, Steven J. Steinberg, Michael F. Wangler, Eric T. Rush, Joseph G. Hacia, Mousumi Bose

Mol Genet Metab. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Mol Genet Metab. 2016 Mar; 117(3): 313–321. Published online 2015 Dec 23. doi: 10.1016/j.ymgme.2015.12.009

PMCID:: PMC5214431

Article PDF–594K

Select item 35098135.

Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders

Sabine Grønborg, Ralph Krätzner, Hendrik Rosewich, Jutta Gärtner

JIMD Rep. 2011; 1: 29–36. Published online 2011 Jun 22. doi: 10.1007/8904_2011_12

PMCID:: PMC3509813

Article PDF–356K

Select item 26499676.

Identification of Novel Mutations and Sequence Variation in the Zellweger Syndrome Spectrum of Peroxisome Biogenesis Disorders

Wing Yan Yik, Steven J. Steinberg, Ann B. Moser, Hugo W. Moser, Joseph G. Hacia

Hum Mutat. Author manuscript; available in PMC 2009 Mar 2.

Published in final edited form as: Hum Mutat. 2009 Mar; 30(3): E467–E480. doi: 10.1002/humu.20932

PMCID:: PMC2649967

Article PDF–853K

Select item 17342447.

Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders

N. Shimozawa, A. Imamura, Z. Zhang, Y. Suzuki, T. Orii, T. Tsukamoto, T. Osumi, Y. Fujiki, R. Wanders, G. Besley, N. Kondo

J Med Genet. 1999 Oct; 36(10): 779–781. doi: 10.1136/jmg.36.10.779

PMCID:: PMC1734244

Summary PDF–109K

Select item 13779688.

PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.

Y Liu, J Björkman, A Urquhart, R J Wanders, D I Crane, S J Gould

Am J Hum Genet. 1999 Sep; 65(3): 621–634. doi: 10.1086/302534

PMCID:: PMC1377968

Summary PDF–1.0M

Select item 13775409.

Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

C C Chang, S J Gould

Am J Hum Genet. 1998 Nov; 63(5): 1294–1306. doi: 10.1086/302103

PMCID:: PMC1377540

Summary PDF–1.8M

Select item 137730410.

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.

D S Warren, J C Morrell, H W Moser, D Valle, S J Gould

Am J Hum Genet. 1998 Aug; 63(2): 347–359. doi: 10.1086/301963

PMCID:: PMC1377304

Summary PDF–1.5M

Select item 122196811.

Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.

S Tamura, N Matsumoto, A Imamura, N Shimozawa, Y Suzuki, N Kondo, Y Fujiki

Biochem J. 2001 Jul 15; 357(Pt 2): 417–426. doi: 10.1042/0264-6021:3570417

PMCID:: PMC1221968

Summary PDF–430K

Select item 118036412.

Mutations in Novel Peroxin Gene PEX26 That Cause Peroxisome-Biogenesis Disorders of Complementation Group 8 Provide a Genotype-Phenotype Correlation

Naomi Matsumoto, Shigehiko Tamura, Satomi Furuki, Non Miyata, Ann Moser, Nobuyuki Shimozawa, Hugo W. Moser, Yasuyuki Suzuki, Naomi Kondo, Yukio Fujiki

Am J Hum Genet. 2003 Aug; 73(2): 233–246. Published online 2003 Jul 8. doi: 10.1086/377004

PMCID:: PMC1180364

Article PDF–691K

Select item 1076760313.

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

Ling Su, Min‐Zhi Peng, Xiao‐Dan Chen, Shuang Wu, Li Liu

Mol Genet Genomic Med. 2024 Jan; 12(1): e2315. Published online 2023 Nov 14. doi: 10.1002/mgg3.2315

PMCID:: PMC10767603

Article PDF–1.2M

Select item 1065248814.

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders, Alberto Burlina

Orphanet J Rare Dis. 2023; 18: 358. Published online 2023 Nov 16. doi: 10.1186/s13023-023-02940-x

PMCID:: PMC10652488

Article PDF–1.1M

Select item 999624615.

Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder

Mark Hsu, Amith Subhash

Case Rep Gastroenterol. 2023 Jan-Dec; 17(1): 168–171. Published online 2023 Mar 8. doi: 10.1159/000529353

PMCID:: PMC9996246

Article PDF–359K

Select item 963133416.

Structural Characterization and Quantitation of Ether-Linked Glycerophospholipids in Peroxisome Biogenesis Disorder Tissue by Ultraviolet Photodissociation Mass Spectrometry

Molly S. Blevins, Samuel W. J. Shields, Wei Cui, Wedad Fallatah, Ann B. Moser, Nancy E. Braverman, Jennifer S. Brodbelt

Anal Chem. Author manuscript; available in PMC 2023 Sep 20.

Published in final edited form as: Anal Chem. 2022 Sep 20; 94(37): 12621–12629. Published online 2022 Sep 7. doi: 10.1021/acs.analchem.2c01274

PMCID:: PMC9631334

Article PDF–1.1M

Select item 955909517.

PEX6 Mutations in Peroxisomal Biogenesis Disorders: An Usher Syndrome Mimic

Matthew D. Benson, Kimberly M. Papp, Geoffrey A. Casey, Alina Radziwon, Chris D. St Laurent, Lance P. Doucette, Ian M. MacDonald

Ophthalmol Sci. 2021 Jun; 1(2): 100028. Published online 2021 May 25. doi: 10.1016/j.xops.2021.100028

PMCID:: PMC9559095

Article PDF–1.7M

Select item 929549118.

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro

Orphanet J Rare Dis. 2022; 17: 286. Published online 2022 Jul 19. doi: 10.1186/s13023-022-02415-5

PMCID:: PMC9295491

Article PDF–11M

Select item 922108219.

Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review

Mousumi Bose, Christine Yergeau, Yasmin D’Souza, David D. Cuthbertson, Melisa J. Lopez, Alyssa K. Smolen, Nancy E. Braverman

Cells. 2022 Jun; 11(12): 1891. Published online 2022 Jun 10. doi: 10.3390/cells11121891

PMCID:: PMC9221082

Article PDF–2.1M

Select item 868089820.

An Infant with Blended Phenotype of Zellweger Spectrum Disorder and Congenital Muscular Dystrophy

Priyanka Gupta, Rajendra Prasad Anne, Sai Kiran Deshabhotla, Gayatri Nerakh

Ann Indian Acad Neurol. 2021 Sep-Oct; 24(5): 759–760. Published online 2021 Feb 24. doi: 10.4103/aian.AIAN_1108_20

PMCID:: PMC8680898

Article PDF–531K

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