Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant, Dong Li, Samuel G. Cox, Dylan Marchione, Evan F. Joiner, Khadija Wilson, Kevin Janssen, Pearl Lee, Michael E. March, Divya Nair, Elliott Sherr, Brieana Fregeau, Klaas J. Wierenga, Alexandrea Wadley, Grazia M. S. Mancini, Nina Powell-Hamilton, Jiddeke van de Kamp, Theresa Grebe, John Dean, Alison RossHeather P. Crawford, Zoe Powis, Megan T. Cho, Marcia C. Willing, Linda Manwaring, Rachel Schot, Caroline Nava, Alexandra Afenjar, Davor Lessel, Matias Wagner, Thomas Klopstock, Juliane Winkelmann, Claudia B. Catarino, Kyle Retterer, Jane L. Schuette, Jeffrey W. Innis, Amy Pizzino, Sabine Luttgen, Jonas Denecke, Tim M. Strom, Kristin G. Monaghan, Zuo-Fei Yuan, Holly Dubbs, Renee Bend, Jennifer A. Lee, Michael J. Lyons, Julia Hoefele, Constance T. R. M. Stumpel, Servi J. C. Stevens, Alexander P. A. Stegmann, DDD Study, Care4Rare Canada Consortium, CAUSES Study

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Web of Science)
Original languageEnglish
Article number9207
Number of pages11
JournalScience advances
Volume6
Issue number49
DOIs
Publication statusPublished - Dec 2020

Keywords

  • PHOSPHORYLATION
  • TRANSCRIPTION
  • VARIANTS
  • RESIDUE
  • GENES
  • CODE

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