Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

Matthew Feldhammer; Stéphanie Durand; Alexey V. Pshezhetsky

doi:10.1371/journal.pone.0007434

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Peer-reviewed

Research Article

Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

Matthew Feldhammer ,

Contributed equally to this work with: Matthew Feldhammer, Stéphanie Durand

Affiliations Department of Medical Genetics, CHU Sainte-Justine University of Montreal, Montreal, Canada, Department of Biochemistry, University of Montreal, Montreal, Canada
⨯
Stéphanie Durand ,

Contributed equally to this work with: Matthew Feldhammer, Stéphanie Durand

Affiliation Department of Medical Genetics, CHU Sainte-Justine University of Montreal, Montreal, Canada
⨯
Alexey V. Pshezhetsky

* E-mail: alexei.pchejetski@umontreal.ca

Affiliations Department of Medical Genetics, CHU Sainte-Justine University of Montreal, Montreal, Canada, Department of Biochemistry, University of Montreal, Montreal, Canada, Department of Pediatrics, University of Montreal, Montreal, Canada, Department of Anatomy and Cell Biology, Faculty of Medicine, McGill University, Montreal, Canada
⨯

Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

Matthew Feldhammer,
Stéphanie Durand,
Alexey V. Pshezhetsky

Published: October 13, 2009
https://doi.org/10.1371/journal.pone.0007434

About the Authors

Matthew Feldhammer

Contributed equally to this work with: Matthew Feldhammer, Stéphanie Durand

Affiliations Department of Medical Genetics, CHU Sainte-Justine University of Montreal, Montreal, Canada, Department of Biochemistry, University of Montreal, Montreal, Canada

Stéphanie Durand

Contributed equally to this work with: Matthew Feldhammer, Stéphanie Durand

Affiliation Department of Medical Genetics, CHU Sainte-Justine University of Montreal, Montreal, Canada

Alexey V. Pshezhetsky

* E-mail: alexei.pchejetski@umontreal.ca

Affiliations Department of Medical Genetics, CHU Sainte-Justine University of Montreal, Montreal, Canada, Department of Biochemistry, University of Montreal, Montreal, Canada, Department of Pediatrics, University of Montreal, Montreal, Canada, Department of Anatomy and Cell Biology, Faculty of Medicine, McGill University, Montreal, Canada

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: MF SD AVP. Performed the experiments: MF SD. Analyzed the data: MF SD AVP. Wrote the paper: MF SD AVP.

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Lysosomes
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Transfection
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Missense mutation
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Fibroblasts
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Enzymes
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Enzyme inhibitors
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Nonsense mutation
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Sulfates
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