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RESEARCH ARTICLE
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development
Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
Disease Models & Mechanisms 2020 13: dmm041913 doi: 10.1242/dmm.041913 Published 26 May 2020
Kristin M. Ates
1Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
2Center for Neurobiology Research, Fralin Biomedical Research Institute at Virginia Tech Carilion, Virginia Tech, Roanoke, VA 24016, USA
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Tong Wang
1Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
3JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
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Trevor Moreland
3JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
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Rajalakshmi Veeranan-Karmegam
4Department of Cellular Biology and Anatomy, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
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Manxiu Ma
1Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
2Center for Neurobiology Research, Fralin Biomedical Research Institute at Virginia Tech Carilion, Virginia Tech, Roanoke, VA 24016, USA
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  • ORCID record for Manxiu Ma
Chelsi Jeter
3JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
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Priya Anand
5Institute of Nanotechnology, Karlsruhe Institute of Technology, 76021 Karlsruhe, Germany
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  • ORCID record for Priya Anand
Wolfgang Wenzel
5Institute of Nanotechnology, Karlsruhe Institute of Technology, 76021 Karlsruhe, Germany
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Hyung-Goo Kim
6Neurological Disorder Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar
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Lynne A. Wolfe
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
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  • ORCID record for Lynne A. Wolfe
Joshi Stephen
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
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  • ORCID record for Joshi Stephen
David R. Adams
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
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Thomas Markello
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
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Cynthia J. Tifft
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
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Robert Settlage
8Advanced Research Computing Unit, Division of Information Technology, Virginia Tech, Blacksburg, VA 24060, USA
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William A. Gahl
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
9National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA
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Graydon B. Gonsalvez
4Department of Cellular Biology and Anatomy, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
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May Christine Malicdan
7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
9National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA
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Heather Flanagan-Steet
3JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
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Y. Albert Pan
1Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
2Center for Neurobiology Research, Fralin Biomedical Research Institute at Virginia Tech Carilion, Virginia Tech, Roanoke, VA 24016, USA
10Department of Biomedical Sciences and Pathobiology, Virginia-Maryland College of Veterinary Medicine, Virginia Tech, Blacksburg, VA 24060, USA
11Department of Psychiatry and Behavioral Medicine, Virginia Tech Carilion School of Medicine, Roanoke, VA 24016, USA
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  • For correspondence: yapan@vtc.vt.edu
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Article Information

vol. 13 no. 5, dmm041913

DOI 
https://doi.org/10.1242/dmm.041913
PubMed 
32152089

Published By 
The Company of Biologists Ltd
Print ISSN 
1754-8403
Online ISSN 
1754-8411
History 
  • Received August 8, 2019
  • Accepted February 27, 2020
  • Published online May 26, 2020.
Posted online 
March 09, 2020
Copyright & Usage 
© 2020. Published by The Company of Biologists Ltd This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed.

Article Versions

  • Previous version (March 9, 2020 - 10:42).
  • You are viewing the most recent version of this article.

Author Information

  1. Kristin M. Ates1,2,
  2. Tong Wang1,3,
  3. Trevor Moreland3,
  4. Rajalakshmi Veeranan-Karmegam4,
  5. Manxiu Ma1,2,
  6. Chelsi Jeter3,
  7. Priya Anand5,
  8. Wolfgang Wenzel5,
  9. Hyung-Goo Kim6,
  10. Lynne A. Wolfe7,
  11. Joshi Stephen7,
  12. David R. Adams7,
  13. Thomas Markello7,
  14. Cynthia J. Tifft7,
  15. Robert Settlage8,
  16. William A. Gahl7,9,
  17. Graydon B. Gonsalvez4,
  18. May Christine Malicdan7,9,
  19. Heather Flanagan-Steet3 and
  20. Y. Albert Pan1,2,10,11,*
  1. 1Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
  2. 2Center for Neurobiology Research, Fralin Biomedical Research Institute at Virginia Tech Carilion, Virginia Tech, Roanoke, VA 24016, USA
  3. 3JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
  4. 4Department of Cellular Biology and Anatomy, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA
  5. 5Institute of Nanotechnology, Karlsruhe Institute of Technology, 76021 Karlsruhe, Germany
  6. 6Neurological Disorder Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar
  7. 7Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
  8. 8Advanced Research Computing Unit, Division of Information Technology, Virginia Tech, Blacksburg, VA 24060, USA
  9. 9National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA
  10. 10Department of Biomedical Sciences and Pathobiology, Virginia-Maryland College of Veterinary Medicine, Virginia Tech, Blacksburg, VA 24060, USA
  11. 11Department of Psychiatry and Behavioral Medicine, Virginia Tech Carilion School of Medicine, Roanoke, VA 24016, USA
  1. ↵*Author for correspondence (yapan{at}vtc.vt.edu)
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Keywords

  • PHETA1
  • IPIP27A
  • OCRL
  • Endocytosis
  • Undiagnosed disease

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RESEARCH ARTICLE
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development
Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
Disease Models & Mechanisms 2020 13: dmm041913 doi: 10.1242/dmm.041913 Published 26 May 2020
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RESEARCH ARTICLE
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development
Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
Disease Models & Mechanisms 2020 13: dmm041913 doi: 10.1242/dmm.041913 Published 26 May 2020

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