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Cellular signaling in pseudoxanthoma elasticum : an update

(2019) CELLULAR SIGNALLING. 55. p.119-129
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Abstract
Pseudoxanthoma elasticum is an autosomal recessive genodermatosis with variable expression, due to mutations in the ABCC6 or ENPP1 gene. It is characterized by elastic fiber mineralization and fragmentation, resulting in skin, eye and cardiovascular symptoms. Significant advances have been made in the last 20 years with respect to the phenotypic characterization and pathophysiological mechanisms leading to elastic fiber mineralization. Nonetheless, the substrates of the ABCC6 transporter - the main cause of PXE - remain currently unknown. Though the precise mechanisms linking the ABCC6 transporter to mineralization of the extracellular matrix are unclear, several studies have looked into the cellular consequences of ABCC6 deficiency in PXE patients and/or animal models. In this paper, we compile the evidence on cellular signaling in PXE, which seems to revolve mainly around TGF-βs, BMPs and inorganic pyrophosphate signaling cascades. Where conflicting results or fragmented data are present, we address these with novel signaling data. This way, we aim to better understand the up- and down-stream signaling of TGF-βs and BMPs in PXE and we demonstrate that ANKH deficiency can be an additional mechanism contributing to decreased serum PPi levels in PXE patients.
Keywords
Pseudoxanthoma elasticum, ABCC6, Cell signaling, Transforming growth factor beta, Bone morphogenetic proteins, Inorganic pyrophosphate, MATRIX-GLA-PROTEIN, BONE MORPHOGENETIC PROTEINS, GENERALIZED ARTERIAL CALCIFICATION, GROWTH-FACTOR CTGF/CCN2, TGF-BETA, MOUSE MODEL, INORGANIC PYROPHOSPHATE, ECTOPIC MINERALIZATION, DERMAL FIBROBLASTS, VASCULAR CALCIFICATION

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Citation

Please use this url to cite or link to this publication:

MLA
Van Gils, Matthias et al. “Cellular Signaling in Pseudoxanthoma Elasticum : an Update.” CELLULAR SIGNALLING 55 (2019): 119–129. Print.
APA
Van Gils, M., Nollet, L., Verly, E., Deianova, N., & Vanakker, O. (2019). Cellular signaling in pseudoxanthoma elasticum : an update. CELLULAR SIGNALLING, 55, 119–129.
Chicago author-date
Van Gils, Matthias, Lukas Nollet, Ewout Verly, Nancy Deianova, and Olivier Vanakker. 2019. “Cellular Signaling in Pseudoxanthoma Elasticum : an Update.” Cellular Signalling 55: 119–129.
Chicago author-date (all authors)
Van Gils, Matthias, Lukas Nollet, Ewout Verly, Nancy Deianova, and Olivier Vanakker. 2019. “Cellular Signaling in Pseudoxanthoma Elasticum : an Update.” Cellular Signalling 55: 119–129.
Vancouver
1.
Van Gils M, Nollet L, Verly E, Deianova N, Vanakker O. Cellular signaling in pseudoxanthoma elasticum : an update. CELLULAR SIGNALLING. 2019;55:119–29.
IEEE
[1]
M. Van Gils, L. Nollet, E. Verly, N. Deianova, and O. Vanakker, “Cellular signaling in pseudoxanthoma elasticum : an update,” CELLULAR SIGNALLING, vol. 55, pp. 119–129, 2019.
@article{8591770,
  abstract     = {Pseudoxanthoma elasticum is an autosomal recessive genodermatosis with variable expression, due to mutations in the ABCC6 or ENPP1 gene. It is characterized by elastic fiber mineralization and fragmentation, resulting in skin, eye and cardiovascular symptoms. Significant advances have been made in the last 20 years with respect to the phenotypic characterization and pathophysiological mechanisms leading to elastic fiber mineralization. Nonetheless, the substrates of the ABCC6 transporter - the main cause of PXE - remain currently unknown. Though the precise mechanisms linking the ABCC6 transporter to mineralization of the extracellular matrix are unclear, several studies have looked into the cellular consequences of ABCC6 deficiency in PXE patients and/or animal models. In this paper, we compile the evidence on cellular signaling in PXE, which seems to revolve mainly around TGF-βs, BMPs and inorganic pyrophosphate signaling cascades. Where conflicting results or fragmented data are present, we address these with novel signaling data. This way, we aim to better understand the up- and down-stream signaling of TGF-βs and BMPs in PXE and we demonstrate that ANKH deficiency can be an additional mechanism contributing to decreased serum PPi levels in PXE patients.},
  author       = {Van Gils, Matthias and Nollet, Lukas and Verly, Ewout and Deianova, Nancy and Vanakker, Olivier},
  issn         = {0898-6568},
  journal      = {CELLULAR SIGNALLING},
  keywords     = {Pseudoxanthoma elasticum,ABCC6,Cell signaling,Transforming growth factor beta,Bone morphogenetic proteins,Inorganic pyrophosphate,MATRIX-GLA-PROTEIN,BONE MORPHOGENETIC PROTEINS,GENERALIZED ARTERIAL CALCIFICATION,GROWTH-FACTOR CTGF/CCN2,TGF-BETA,MOUSE MODEL,INORGANIC PYROPHOSPHATE,ECTOPIC MINERALIZATION,DERMAL FIBROBLASTS,VASCULAR CALCIFICATION},
  language     = {eng},
  pages        = {119--129},
  title        = {Cellular signaling in pseudoxanthoma elasticum : an update},
  url          = {http://dx.doi.org/10.1016/j.cellsig.2018.12.009},
  volume       = {55},
  year         = {2019},
}

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