Ashleigh Schaffer

Post-Doctoral Fellow
Cellular and Molecular Medicine
aschaffer at ucsd.edu

Degrees

PhD, Developmental and Cell Biology, University of California - Irvine, 2010

Summary

Coming soon!

Awards

2015-2017 NIH K99/R00 Pathway to Independence Award (NICHD, K99HD082337)
2012-2015 A.P. Giannini Medical Research Postdoctoral Fellowship
2011-2012 California Institute for Regenerative Medicine (CIRM) Postdoctoral Fellowship

Publications

  1. Seung Tae Baek, Brett Copeland, Eun-Jin Yun, Seok-Kyu Kwon, Alicia Guemez-Gamboa, Ashleigh E. Schaffer, Sangwoo Kim, Hoon-Chul Kang, Saera Song, Gary W. Mathern, Joseph G. Gleeson. An AKT3-FOXG1-Reelin Network Underlies Defective Migration in Human Focal Malformations of Cortical Development. Nature Medicine. 2015 Nov 2. doi: 10.1038/nm.3982. PMID: 26523971

  2. Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Xin Wang, Rasim Ozgur Rosti, Esra Dikoglu, Antoinette Bernabe Gelot, Basak Rosti, Eric M. Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip Gordts, Jeffrey D. Esko, Majdi Kara, Matloob Azam, Tawfeg Ben-Omran, Lihadh Al-Gazali, Laila Selim, Iman Gamal, Sawsan Abdel Hadi, Faezeh Mojahedi, Hulya Kayserili, Amira Masri, Laila Bastaki, Samia Temtamy, Isabelle Desguerre, Jean-Laurent Casanova, Murat Gunel, Stacey B. Gabriel, Pascual de Lonlay, Joseph G. Gleeson. Biallelic mutations in SNX14 lead to a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6. PMID: 25848753

  3. Ketu Mishra-Gorur, Ahmet Okay Caglayan, Ashleigh E. Schaffer, Chiswili Chabu, Octavian Henegariu, Fernando Vonhoff, Gozde Tugce Akgumus, Sayoko Nishimura, Wenqi Han, Shu Tu, Burcin Baran, Haken Gumus, Cengiz Dilber, Maha S. Zaki, Heba A.A. Hossni, Jean-Baptiste Riviere, Hulya Kayserili, Emily G. Spencer, Rasim O. Rosti, Jana Schroth, Huseyin Per, Caner Caglar, Cagri Caglar, Duygu Dolen, Jacob F. Baranoski, Sefer Kumandas, Frank J. Minja, E. Zeynep Erson Omay, Shrikant M. Mane, Richard P. Lifton, Tian Xu, Haig Keshishian, William B. Dobyns, Neil C. Chi, Nenad Sestan, Angeliki Louvi, Kaya Bilguvar, Kasuhito Yasuno, Joseph G. Gleeson, Murat Gunel. KATNB1 Mutations Cause Microcephaly and Complex Cerebral Cortical Malformations by Asymmetrically Dividing Neural Progenitors. Neuron. Dec 17;84(6):1226-39. doi: 10.1016/j.neuron.2014.12.014. PMID: 25521378 (*equal contribution)

  4. Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet Okay Caglayan, Miriam S. Reuter, Eric Scott, Nicole G. Coufal, Jennifer L. Silhavy, Yuanchao Xue, Hulya Kayserili, Katsuhito Yasuno, Rasim Ozgur Rosti, Mostafa Abdellateef, Caner Caglar, Paul R. Kasher, J. Leonie Cazemier, Marian A. Weterman, Vincent Cantagrel, Na Cai, Christiane Zweier, Umut Altunoglu, N. Bilge Satkin, Fesih Aktar, Beyhan Tuysuz, Cengiz Yalcinkaya, Huseyin Caksen, Kaya Bilguvar, Xiang-Dong Fu, Chris Trotta, Stacey Gabriel, André Reis, Murat Gunel, Frank Baas, Joseph G. Gleeson. CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration. Cell. 2014 Apr 24;157(3):651-63. doi: 10.1016/j.cell.2014.03.049. PMID: 24766810

  5. Samira Ismail, Ashleigh E. Schaffer, Rasim O. Rosti, Joseph G. Gleeson, and Maha Zaki. Novel Mutation in the Fukutin Gene in an Egyptian Family with Fukuyama Congenital Muscular Dystrophy and Microcephaly. Gene. 2014 Feb 12. PMID: 24530477

  6. Ashleigh Schaffer, Brandon Taylor, Jacqueline Benthuysen, Jingxuan Liu, Weiping Yuan, Yang Jiao, Klaus Kaestner, Mark Magnuson, Catherine Lee May, and Maike Sander. Nkx6.1 Controls a Gene Regulatory Network Required for Establishing and Maintaining Pancreatic Beta Cell Identity. PLoS Genetics. 2013 9(1): e1003274. doi:10.1371/journal.pgen.1003274. PMID: 23382704 (*equal contribution)

  7. Ghada M.H. Abdel-Salam, Ashleigh E. Schaffer, Maha S. Zaki, Tracy J. Dixon-Salazar, Inas S. Mostafa, Hanan Afifi, and Joseph G. Gleeson. A homozygous IER3IP1 mutation causes microcephaly with simplified gyration, epilepsy and permanent neonatal diabetes syndrome (MEDS). American Journal of Medical Genetics. 2012 Sep 18. doi: 10.1002/ajmg.a.35583. PMID: 22991235

  8. Tracy J. Dixon-Salazar, Jennifer L. Silhavy, Nitin Udpa, Jana Schroth, Ashleigh E. Schaffer, Jesus Olvera, Vineet Bafna, Maha S. Zaki, Ghada H. Abdel-Salam, Lobna A. Mansour, Laila Selim, Sawsan Abdel-Hadi, Naima Marzouki, Tawfeg Ben-Omran, Nouriya A. Al-Saana, Mujgan Sönmez-Aunaci, Figen Celep, Matloob Azam, Kiley J. Hill, Adrienne Collazo, Ali G. Fenstermaker, Gaia Novarino, Naiara Akizu, Kiran V. Garimella, Carrie Sougnez, Carsten Russ, Stacey B. Gabriel*, and Joseph G. Gleeson. Exome Sequencing in the Neurodevelopmental Clinic Can Improve Diagnosis and Alter Patient Management. Science Translational Medicine. 2012 Jun 13;4(138):138ra78. PMID: 22700954

  9. Ashleigh Schaffer, Almira Yang, Fabrizio Thorel, PL Herrera, and Maike Sander. Transgenic overexpression of the transcription factor Nkx6.1 in beta cells does not increase beta cell proliferation, beta cell mass, or improve glucose clearance in vivo. Molecular Endocrinology. September 29, 2011, doi: 10.1210/me.2011-1010. PMID: 21964593

  10. Janel Kopp, Claire Dubois, Ashleigh Schaffer, Ergeng Hao, Hung Ping Shih, Philip Seymour, Jenny Ma, and Maike Sander. Sox9+ cells are progenitors throughout development and produce new endocrine cells after birth. Development. 2011 Jan;138:653-665 PMID: 21266405 (*equal contribution)

  11. Ashleigh Schaffer, Kristine Freude, Shelley Nelson, and Maike Sander. Ptf1a and Nkx6 transcription factors function as antagonistic lineage determinants in multipotent pancreatic progenitors. Developmental Cell. 2010 Jun 18(6): 1022-1029 PMID: 20627083

  12. Tim Fergestad, Harinath Sale, Bret Bostwick, Ashleigh Schaffer, Lingling Ho, Gail A. Robertson, and Barry Ganetzky. down and out encodes an essential regulator of Erg potassium channels in Drosophila. P.N.A.S. 2010 Mar 23;107(12):5617-21. PMID: 20212103

  13. Shelley Nelson, Ashleigh Schaffer, and Maike Sander. The transcription factors Nkx6.1 and Nkx6.2 possess equivalent activities in promoting beta-cell fate specification in Pdx1+ pancreatic progenitor cells. Development. 2007 Jul;134(13):2491-500. PMID: 17537793

  14. Jochen Holzschuh, Naoyuki Wada, Chikako Wada, Ashleigh Schaffer, Yashar Javidan, Alexandra Tallafuss, Laure Bally-Cuif, and Thomas F Schilling. Requirements for endoderm and BMP signaling in sensory neurogenesis in zebrafish. Development. 2005 Aug;132(16):3731-42. PMID: 16077092