ArticleAmerican journal of human genetics1998
Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 169 citations in OpenAlex.
- Zellweger syndrome; identification of mutations inAnnals of medicine · 2025Article
- Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders.Disease models & mechanisms · 2025Article
- Interaction between fatty acid oxidation and ethanol metabolism in liver.American journal of physiology. Gastrointestinal and liver physiology · 2024Review
- Article
- Under peroxisome proliferation acyl-CoA oxidase coordinates with catalase to enhance ethanol metabolism.Free radical biology & medicine · 2023Article
- Peroxisomal Fitness: A Potential Protective Mechanism of Fenofibrate against High Fat Diet-Induced Non-Alcoholic Fatty Liver Disease in Mice.Diabetes & metabolism journal · 2022Article
- Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.Neurogenetics · 2022Article
- Post-translational modifications of proteins associated with yeast peroxisome membrane: An essential mode of regulatory mechanism.Genes to cells : devoted to molecular & cellular mechanisms · 2021Review
- Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Dynamics of Peroxisome Homeostasis and Its Role in Stress Response and Signaling in Plants.Frontiers in plant science · 2019Review
- Expanding the spectrum ofMolecular genetics and metabolism reports · 2018Article
- The making of a mammalian peroxisome, version 2.0: mitochondria get into the mix.Cell death and differentiation · 2017Review
- Glycosome biogenesis in trypanosomes and the de novo dilemma.PLoS neglected tropical diseases · 2017Review
- Critical role of the peroxisomal protein PEX16 in white adipocyte development and lipid homeostasis.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2017Article
- Peroxisome biogenesis disorders.Translational science of rare diseases · 2016Article
- Peroxisomes in brain development and function.Biochimica et biophysica acta · 2016Review
- Human Peroxin PEX3 Is Co-translationally Integrated into the ER and Exits the ER in Budding Vesicles.Traffic (Copenhagen, Denmark) · 2016Article
- Peroxisome biogenesis and human peroxisome-deficiency disorders.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2016Review
- Dysregulation of Plasmalogen Homeostasis Impairs Cholesterol Biosynthesis.The Journal of biological chemistry · 2015Article
- Pex11mediates peroxisomal proliferation by promoting deformation of the lipid membrane.Biology open · 2015Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Peroxisome-biogenesis disorders (PBDs), including Zellweger syndrome (ZS), are autosomal recessive diseases caused by a deficiency in peroxisome assembly as well as by a malfunction of peroxisomes, among which>10 genotypes have been identified. We have isolated a human PEX16 cDNA (HsPEX16) by performing an expressed-sequence-tag homology search on a human DNA database, by using yeast PEX16 from Yarrowia lipolytica and then screening the human liver cDNA library. This cDNA encodes a peroxisomal protein (a peroxin Pex16p) made up of 336 amino acids. Among 13 peroxisome-deficiency complementation groups (CGs), HsPEX16 expression morphologically and biochemically restored peroxisome biogenesis only in fibroblasts from a CG-D patient with ZS in Japan (the same group as CG-IX in the United States). Pex16p was localized to peroxisomes through expression study of epitope-tagged Pex16p. One patient (PBDD-01) possessed a homozygous, inactivating nonsense mutation, C-->T at position 526 in a codon (CGA) for 176Arg, that resulted in a termination codon (TGA). This implies that the C-terminal half is required for the biological function of Pex16p. PBDD-01-derived PEX16 cDNA was defective in peroxisome-restoring activity when expressed in the patient's fibroblasts. These results demonstrate that mutation in PEX16 is the genetic cause of CG-D PBDs.
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