Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

Clement Y. Chow, Yanling Zhang, James J. Dowling, Natsuko Jin, Maja Adamska, Kensuke Shiga, Kinga Szigeti, Michael E. Shy, Jun Li, Xuebao Zhang, James R. Lupski, Lois S. Weisman and Miriam H. Meisler ()
Additional contact information
Clement Y. Chow: Department of Human Genetics,
Yanling Zhang: Life Sciences Institute,
James J. Dowling: University of Michigan, Ann Arbor, Michigan 48109, USA
Natsuko Jin: Life Sciences Institute,
Maja Adamska: Department of Human Genetics,
Kensuke Shiga: Departments of Molecular and Human Genetics,
Kinga Szigeti: Departments of Molecular and Human Genetics,
Michael E. Shy: Wayne State University School of Medicine, Detroit, Michigan 48201, USA
Jun Li: Wayne State University School of Medicine, Detroit, Michigan 48201, USA
Xuebao Zhang: Wayne State University School of Medicine, Detroit, Michigan 48201, USA
James R. Lupski: Departments of Molecular and Human Genetics,
Lois S. Weisman: Life Sciences Institute,
Miriam H. Meisler: Department of Human Genetics,

Nature, 2007, vol. 448, issue 7149, 68-72

Abstract: Pale tremor gene discovery The appearance of a spontaneous mutation in mice in a University of Michigan research laboratory has led to the identification of the gene responsible for a form of the inherited neurodegenerative disease called Charcot–Marie–Tooth disorder. The pale tremor mice, which develop a multi-organ neurodegeneration, are mutated in a homologue of the yeast gene Fig4, which is required to maintain normal levels of the signalling lipid PtdIns(3,5)P2. Prior to this work, there had been no indication that the low abundance signalling compound PtdIns(3,5)P2 had a specific role in neuronal maintenance.

Date: 2007
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/nature05876 Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:448:y:2007:i:7149:d:10.1038_nature05876

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/nature05876

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().