|
| |
GAA
Gene Information from Publications |
| Publication Link |
Summary of findings |
| 17213836 |
demonstrated a significant increase of GAA activity (1.3-7.5-fold) after imino sugar treatment in fibroblasts from patients carrying the mutations L552P (three patients) and G549R (one patient) |
| 18285536 |
In Glycogen Storage Disease Type II suggesting a loss alpha-Glucosidase of function rather than abnormal protein processing and expression |
| 15313146 |
Observational study of genetic testing. (HuGE Navigator) |
| 17915575 |
Despite a common genotype, patients present with a wide variability in residual enzyme activity, age of appearance of clinical signs and rate of disease progression suggesting other factors in Pompe disease. |
| 17592248 |
The role of autophagy in Pompe disease was examined by analyzing single muscle fibers. |
| 17616415 |
Mutations in glucosidase alpha is asspciated with glycogen storage disease type II |
| 12065598 |
novel target of the Notch-1/Hes-1 signaling pathway |
| 15668445 |
2 novel mutations (Ala237Val and Gly293Arg) were foundin the acid alpha-glucosidase gene in a Pompe disease patient with vascular involvement. |
| 15993875 |
Acid-alpha-glucosidase activity and specific activity, and lysosomal glycogen content are useful predictors of age of onset in Pompe disease |
| 17092519 |
Two new missense mutations (p.266Pro>Ser and p.439Met>Lys) were new missense mutations causing late onset GSD II. | →View more information from publications. |
Recent Publications on GAA: |  |
Progressive GAA.TTC repeat expansion in human cell lines.
Trinucleotide repeat expansion is the genetic basis for a sizeable group... | 31st October, 2009
| Department of Genetics, Louisiana State University Health Sciences Center,
| PLoS Genet. 2009 Oct;5(10):e1000704. Epub 2009 Oct 30.
DOI Direct Link |
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
Pompe disease is a lysosomal storage disorder (LSD) caused by mutations in... | 29th October, 2009
| Amicus Therapeutics Inc., Cranbury, New Jersey.
| Hum Mutat. 2009 Sep 4.
DOI Direct Link |
Systemic Inhibition of Transforming Growth Factor-{beta} in Glioma-Bearing Mice Improves the Therapeutic Efficacy of Glioma-Associated Antigen Peptide Vaccines.
PURPOSE: A variety of cancers, including malignant gliomas, overexpress... | 29th October, 2009
| Authors' Affiliations: Departments of Neurological Surgery, Surgery,
| Clin Cancer Res. 2009 Oct 27.
DOI Direct Link |
Images in cardiovascular medicine. Recurrent syncope due to torsades de pointes in a 41-year-old woman with an empty sella, anterior pituitary insufficiency, and a long-QT interval.
Establishing an association between variables is always of interest in... | 24th October, 2009
| Deutsches Herzzentrum Munchen, Lazarettstr 36, 80636 Munchen, Germany.
| Circulation. 2009 Oct 6;120(14):e127-9.
DOI Direct Link |
Brain tumor immunotherapy with type-1 polarizing strategies.
Although the safety of vaccine approaches for central nervous system (CNS)... | 24th October, 2009
| University of Pittsburgh School of Medicine, Brain Tumor Program,
| Ann N Y Acad Sci. 2009 Sep;1174:18-23.
DOI Direct Link |
→View more research publications. |
Press Releases on GAA:
|
 |
| GAA Congratulates President Obama on New U.S. World Leadership in Lifting the HIV Travel Ban |
30th October, 2009 |
Global AIDS Alliance |
WASHINGTON, Oct. 30 /PRNewswire-USNewswire/ -- The Global AIDS Alliance welcomes President Obama's announcement today to lift the 22 year-old U.S. travel and immigration ban on those
|
| BioMarin Announces Third Quarter 2009 Financial Results |
28th October, 2009 |
BioMarin Pharmaceutical Inc. |
Financial Highlights ($ in millions, except per share data)
Item Q3 2009 Q3 2008 Comparison
Total BioMarin
Revenue $80.8
|
| Global Aids Alliance Voices Its Strong Support for the International Violence Against Women Act |
19th October, 2009 |
Global AIDS Alliance |
'Violence against women and girls is both a cause and a consequence of HIV/AIDS.'
WASHINGTON, Oct. 19 /PRNewswire-USNewswire/ -- On Wednesday,
|
| Global AIDS Alliance Calls on President Obama to Honor His Campaign Promises on Global AIDS and Education |
8th July, 2009 |
Global AIDS Alliance |
WASHINGTON, July 08 /PRNewswire-USNewswire/ -- On the eve of President Obama's visit to Ghana, Global AIDS Alliance executive director Dr. Paul Zeitz called on the President to honor
|
| Global Health Advocates Call For Pan-African Voices to Speak Up |
19th May, 2009 |
|
NAIROBI, Kenya, May 19 /PRNewswire/ -- In a press conference held today in Nairobi, global health advocates,
including Global AIDS Alliance (GAA) executive director Dr. Paul Zeitz,
called for a pan
|
GAA results (if any) from reagent suppliers | 
|
Histone H3 (tri methyl K27) antibody [mAbcam 6002] - ChIP Grade ...
hsGAPDH exon 1 tcg cca ggt gaa gac ggg cg. BC0327000 (accession number) ... hsSat2 repeat F1 ATC GAA TGG AAA TGA AAG GAG TCA ...
http://www.abcam.com/index.html?pageconfig=protocols&pid=555...
|
 |
LYAG (H-60) Antibody sc-67359
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Human, GAA, 2548, 17q25.3, NM_000152 ...
http://www.scbt.com/datasheet-67359-lyag-h-60-antibody.html...
|
 |
Development of Heterogeneous and Homogeneous Platforms for Rapid ...
5`F - GCC CTG GAA TCC AGT TTG AA 3`. 3` CGG GAC CTT AGG TCA AAC TT 5` ... 5`F - CGC TTG ATG ACT CAG CCG GAA 3`. 3` GCG AAC TAC TGA GTC GGC CTT 5` ...
http://www.sigmaaldrich.com/etc/medialib/docs/Sigma/General_...
|
 |
Frataxin (H-155) Antibody sc-25820
Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia. FEBS Lett. 580: 5399-5405. ...
http://www.scbt.com/datasheet-25820-frataxin-h-155-antibody....
|
 |
3C-3E
Monoclonal Anti-GAA antibody produced in mouse clone 3C6, purified immunoglobulin, buffered aqueous solution, 3C6 (monoclonal) ...
http://www.sigmaaldrich.com/etc/controller/controller-page.h...
|
 |
TransCruz™ Gel Shift Oligonucleotides: provided as 500 ng double ...
GAG GAA. for Gel Shift. Ets Family Gel Shift Oligonucleotides. sc-2550 ... TGG ATT GAA GCC AAT. for Gel Shift. NF-1 Gel Shift Oligonucleotides. sc-2554 ...
http://www.scbt.com/support-table-transcruz_gel_shift_oligon...
|
 |
Promega Notes 44: Immunocytochemistry for Specific Growth Factors
Ferns, G.A.A. et al. (1991) Science 253, 1129. 16. Jawien, A. et al. (1992) J. Clin. Invest. 89, 506. 17. Olson, N.E. et al. (1992) Am. J. Pathol. ...
http://www.promega.com/pnotes/44/gordon2/gordon2_core.pdf...
|
 |
Search Bioportfolio and other Life Science Sites for GAA,
or search for GAA on BioPortfolio's antibody search engine.
This page has been viewed 140 times
Recent Search Terms used to find this page: pompe s disease and yeast | gaa recent publications 2008 | GAA glucosidase | missense mutations Pompe | alpha pompe data sheet | .
Resources from the NCBI used on this page, NCBI's standard disclaimer applies.
|
