Difference between revisions of "Phosphatases and Diseases"
From PhosphataseWiki
(→Other diseases) |
(→Other diseases) |
||
| Line 19: | Line 19: | ||
== Other diseases == | == Other diseases == | ||
| − | ==== [ | + | ==== [Phosphatase_Gene_SBF1|SBF1]]: Charcot-Marie-Tooth disease ==== |
| − | See [http://omim.org/entry/ | + | See [http://omim.org/entry/603560 OMIM]. |
| − | ==== [[Phosphatase_Gene_MTMR14|MTMR14]] | + | ==== [Phosphatase_Gene_PPM1K|PPM1K]]: Maple syrup urine disease ==== |
| + | See [http://omim.org/entry/611065 OMIM]. | ||
| + | |||
| + | ==== [[Phosphatase_Gene_MTMR14|MTMR14]]: [http://en.wikipedia.org/wiki/Centronuclear_myopathy centronuclear myopathy] ==== | ||
See [http://omim.org/entry/160150 OMIM]. | See [http://omim.org/entry/160150 OMIM]. | ||
| + | |||
| + | ==== [[Phosphatase_Gene_PTPRQ|PTPRQ]]: deafness ==== | ||
| + | See [http://omim.org/entry/603317 OMIM]. | ||
== References == | == References == | ||
Revision as of 04:16, 6 June 2014
Contents
Cancer
PTEN
PTPN11 (SHP2)
PTPRC (CD45)
DUSP3 (VHR)
DUSP3 is a negative regulator of ERK and JNK pathways in in vitro studies in several cell lines. Though its role is involved in human cancer, its has contradictory roles since it has been alternatively described as having tumor suppressive and oncogenic properties [1].
DUSP26 (MKP8)
DUSP26 (aka MKP8) is a novel p53 phosphatase and inhibits p53 tumor suppressor functions in human neuroblastoma [2].
PPM1D (WIP1)
PPM1D as a frequent target of somatic mutation and as a potential therapeutic target in brainstem gliomas [3].
Other diseases
[Phosphatase_Gene_SBF1|SBF1]]: Charcot-Marie-Tooth disease
See OMIM.
[Phosphatase_Gene_PPM1K|PPM1K]]: Maple syrup urine disease
See OMIM.
MTMR14: centronuclear myopathy
See OMIM.
PTPRQ: deafness
See OMIM.
References
- Amand M, Erpicum C, Bajou K, Cerignoli F, Blacher S, Martin M, Dequiedt F, Drion P, Singh P, Zurashvili T, Vandereyken M, Musumeci L, Mustelin T, Moutschen M, Gilles C, Noel A, and Rahmouni S. DUSP3/VHR is a pro-angiogenic atypical dual-specificity phosphatase. Mol Cancer. 2014 May 15;13:108. DOI:10.1186/1476-4598-13-108 |
- Shang X, Vasudevan SA, Yu Y, Ge N, Ludwig AD, Wesson CL, Wang K, Burlingame SM, Zhao YJ, Rao PH, Lu X, Russell HV, Okcu MF, Hicks MJ, Shohet JM, Donehower LA, Nuchtern JG, and Yang J. Dual-specificity phosphatase 26 is a novel p53 phosphatase and inhibits p53 tumor suppressor functions in human neuroblastoma. Oncogene. 2010 Sep 2;29(35):4938-46. DOI:10.1038/onc.2010.244 |
- Zhang L, Chen LH, Wan H, Yang R, Wang Z, Feng J, Yang S, Jones S, Wang S, Zhou W, Zhu H, Killela PJ, Zhang J, Wu Z, Li G, Hao S, Wang Y, Webb JB, Friedman HS, Friedman AH, McLendon RE, He Y, Reitman ZJ, Bigner DD, and Yan H. Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas. Nat Genet. 2014 Jul;46(7):726-30. DOI:10.1038/ng.2995 |
