Thanks to Rare Science, ADCY5.org is taking part in a CIRM grant, a billion dollar stem cell initiative in California. Through the ADCY5 RARE Science grant and the laboratory capabilities provided by CIRM, we are making not one but stem cell lines for all families who wanted to participate.  Through the initiative, the cell lines (a coveted research tool) will be provided to researchers around the globe eliminating the barrier to study this rare disease. The opportunity is unprecedented and will be a Landmark research effort for the rare disease community. Read about this project here.

ADCY5 Gene Mutation Journal Articles

 

ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations. Neurology. 2015 Chen DH, Méneret A, Friedman JR, et al.

 

Phenotypic insights into ADCY5-associated disease Movement Disorders, 2016 Chang FC, Westenberger A, Dale RC, et al.

 

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia

A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.

 

VIDEO: ADCY5 mutations are another cause of benign hereditary chorea, Neurology Journal, July 29, 2015

 

Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series, April 8, 2016.


Bird, T. D., Hall, J. G. Additional information on familial essential (benign) chorea. (Letter) Clin. Genet. 14: 271-272, 1978. [PubMed: 152174, related citations]


Chen, Y.-Z., Friedman, J. R., Chen, D.-H., Chan, G. C.-K., Bloss, C. S., Hisama, F. M., Topol, S. E., Carson, A. R., Pham, P. H., Bonkowski, E. S., Scott, E. R., Lee, J. K., and 13 others. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann. Neurol. 75: 542-549, 2014. [PubMed: 24700542, related citations] [Full Text: John Wiley & Sons, Inc.]


Chen, Y.-Z., Matsushita, M. M., Robertson, P., Rieder, M., Girirajan, S., Antonacci, F., Lipe, H., Eichler, E. E., Nickerson, D. A., Bird, T. D., Raskind, W. H. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch. Neurol. 69: 630-635, 2012. [PubMed: 22782511, related citations] [Full Text: Silverchair Information Systems]


Fernandez, M., Raskind, W., Wolff, J., Matsushita, M., Yuen, E., Graf, W., Lipe, H., Bird, T. Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. Ann. Neurol. 49: 486-492, 2001. [PubMed: 11310626, related citations]
5. Kim, K.-S., Lee, K.-W., Lee, K.-W., Im, J.-Y., Yoo, J. Y., Kim, S.-W., Lee, J.-K., Nestler, E. J., Han, P.-L. Adenylyl cyclase type 5 (AC5) is an essential mediator of morphine action. Proc. Nat. Acad. Sci. 103: 3908-3913, 2006. [PubMed: 16537460, related citations] [Full Text: HighWire Press]




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