Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease-Reference-Cited by-同舟云学术

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

Published:2016-07-13 Issue:347 Volume:8 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Burberry Aaron¹²,Suzuki Naoki¹²,Wang Jin-Yuan¹²,Moccia Rob¹²,Mordes Daniel A.¹²³,Stewart Morag H.¹⁴,Suzuki-Uematsu Satomi¹²,Ghosh Sulagna¹²,Singh Ajay¹²,Merkle Florian T.¹²,Koszka Kathryn¹²,Li Quan-Zhen⁵,Zon Leonard¹⁶,Rossi Derrick J.¹⁴⁶,Trowbridge Jennifer J.⁷,Notarangelo Luigi D.⁶⁸,Eggan Kevin¹²

Affiliation:

1. Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.

2. Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

3. Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, USA.

4. Program in Cellular and Molecular Medicine, Division of Hematology/Oncology, Boston Children’s Hospital, Boston, MA 02115, USA.

5. Departments of Immunology and Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

6. Harvard Medical School, Boston, MA 02115, USA.

7. The Jackson Laboratory for Mammalian Genetics, Bar Harbor, ME 04609, USA.

8. Division of Immunology, Boston Children’s Hospital, Boston, MA 02115, USA.

Abstract

Loss-of-function mutations in the mouse ortholog of C9ORF72 cause fatal autoimmunity that is transferable by bone marrow–derived cells, demonstrating a hematopoietic intrinsic function for the protein encoded by this gene.

Funder

Howard Hughes Medical Institute

NIH

Wellcome Trust

Academy of Medical Sciences

Medical Research Council

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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1. Amyotrophic lateral sclerosis