Acid alpha-glucosidase


Acid alpha-glucosidase

Glucosidase, alpha; acid, also known as GAA, is a human gene.cite web | title = Entrez Gene: GAA glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2548| accessdate = ] Error's in this gene cause glycogen storage disease type II (Pompe disease).

PBB_Summary
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summary_text = This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene.cite web | title = Entrez Gene: GAA glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2548| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Feizi T, Larkin M |title=AIDS and glycosylation. |journal=Glycobiology |volume=1 |issue= 1 |pages= 17–23 |year= 1992 |pmid= 2136376 |doi=
*cite journal | author=Reuser AJ, Kroos MA, Hermans MM, "et al." |title=Glycogenosis type II (acid maltase deficiency). |journal=Muscle Nerve |volume=3 |issue= |pages= S61–9 |year= 1995 |pmid= 7603530 |doi=
*cite journal | author=Land A, Braakman I |title=Folding of the human immunodeficiency virus type 1 envelope glycoprotein in the endoplasmic reticulum. |journal=Biochimie |volume=83 |issue= 8 |pages= 783–90 |year= 2001 |pmid= 11530211 |doi=
*cite journal | author=Zhong N, Martiniuk F, Tzall S, Hirschhorn R |title=Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele. |journal=Am. J. Hum. Genet. |volume=49 |issue= 3 |pages= 635–45 |year= 1991 |pmid= 1652892 |doi=
*cite journal | author=Fenouillet E, Gluckman JC |title=Effect of a glucosidase inhibitor on the bioactivity and immunoreactivity of human immunodeficiency virus type 1 envelope glycoprotein. |journal=J. Gen. Virol. |volume=72 ( Pt 8) |issue= |pages= 1919–26 |year= 1991 |pmid= 1678778 |doi=
*cite journal | author=Martiniuk F, Mehler M, Bodkin M, "et al." |title=Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele. |journal=DNA Cell Biol. |volume=10 |issue= 9 |pages= 681–7 |year= 1992 |pmid= 1684505 |doi=
*cite journal | author=Ratner L, vander Heyden N, Dedera D |title=Inhibition of HIV and SIV infectivity by blockade of alpha-glucosidase activity. |journal=Virology |volume=181 |issue= 1 |pages= 180–92 |year= 1991 |pmid= 1704656 |doi=
*cite journal | author=Dedera DA, Gu RL, Ratner L |title=Role of asparagine-linked glycosylation in human immunodeficiency virus type 1 transmembrane envelope function. |journal=Virology |volume=187 |issue= 1 |pages= 377–82 |year= 1992 |pmid= 1736542 |doi=
*cite journal | author=Hermans MM, Kroos MA, van Beeumen J, "et al." |title=Human lysosomal alpha-glucosidase. Characterization of the catalytic site. |journal=J. Biol. Chem. |volume=266 |issue= 21 |pages= 13507–12 |year= 1991 |pmid= 1856189 |doi=
*cite journal | author=Hermans MM, de Graaff E, Kroos MA, "et al." |title=Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II. |journal=Biochem. Biophys. Res. Commun. |volume=179 |issue= 2 |pages= 919–26 |year= 1991 |pmid= 1898413 |doi=
*cite journal | author=Murphy CI, Lennick M, Lehar SM, "et al." |title=Temporal expression of HIV-1 envelope proteins in baculovirus-infected insect cells: implications for glycosylation and CD4 binding. |journal=Genet. Anal. Tech. Appl. |volume=7 |issue= 6 |pages= 160–71 |year= 1991 |pmid= 2076345 |doi=
*cite journal | author=Martiniuk F, Mehler M, Tzall S, "et al." |title=Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. |journal=DNA Cell Biol. |volume=9 |issue= 2 |pages= 85–94 |year= 1990 |pmid= 2111708 |doi=
*cite journal | author=Kalyanaraman VS, Rodriguez V, Veronese F, "et al." |title=Characterization of the secreted, native gp120 and gp160 of the human immunodeficiency virus type 1. |journal=AIDS Res. Hum. Retroviruses |volume=6 |issue= 3 |pages= 371–80 |year= 1990 |pmid= 2187500 |doi=
*cite journal | author=Martiniuk F, Bodkin M, Tzall S, Hirschhorn R |title=Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells. |journal=Am. J. Hum. Genet. |volume=47 |issue= 3 |pages= 440–5 |year= 1990 |pmid= 2203258 |doi=
*cite journal | author=Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA |title=Characterization of the human lysosomal alpha-glucosidase gene. |journal=Biochem. J. |volume=272 |issue= 2 |pages= 493–7 |year= 1991 |pmid= 2268276 |doi=
*cite journal | author=Shimizu H, Tsuchie H, Honma H, "et al." |title=Effect of N-(3-phenyl-2-propenyl)-1-deoxynojirimycin on the lectin binding to HIV-1 glycoproteins. |journal=Jpn. J. Med. Sci. Biol. |volume=43 |issue= 3 |pages= 75–87 |year= 1991 |pmid= 2283726 |doi=
*cite journal | author=Leonard CK, Spellman MW, Riddle L, "et al." |title=Assignment of intrachain disulfide bonds and characterization of potential glycosylation sites of the type 1 recombinant human immunodeficiency virus envelope glycoprotein (gp120) expressed in Chinese hamster ovary cells. |journal=J. Biol. Chem. |volume=265 |issue= 18 |pages= 10373–82 |year= 1990 |pmid= 2355006 |doi=
*cite journal | author=Pal R, Hoke GM, Sarngadharan MG |title=Role of oligosaccharides in the processing and maturation of envelope glycoproteins of human immunodeficiency virus type 1. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue= 9 |pages= 3384–8 |year= 1989 |pmid= 2541446 |doi=
*cite journal | author=Dewar RL, Vasudevachari MB, Natarajan V, Salzman NP |title=Biosynthesis and processing of human immunodeficiency virus type 1 envelope glycoproteins: effects of monensin on glycosylation and transport. |journal=J. Virol. |volume=63 |issue= 6 |pages= 2452–6 |year= 1989 |pmid= 2542563 |doi=

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