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first in order of importance; "the alpha male in the group of chimpanzees"; "the alpha star in a constellation is the brightest or main star"
the 1st letter of the Greek alphabet
the beginning of a series or sequence; "the Alpha and Omega, the first and the last, the beginning and the end"--Revelations
early testing stage of a software or hardware product; "alpha version"
any high mountain

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アルファ(ギリシア語アルファベットの第1字A,α;英語のA,aに相当) / アルファ星(星座の主星)
高山,高峰

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/02/24 16:54:14」(JST)

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Alpha-galactosidase is a glycoside hydrolase enzyme that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. It is encoded by the GLA gene.^[1] Two recombinant forms of alpha-galactosidase are called agalsidase alfa (INN) and agalsidase beta (INN).

Function

This enzyme is a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. It predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose.

Pathology

A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry's disease, a rare lysosomal storage disorder and sphingolipidosis that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties.^[2]

Two enzyme replacement therapies are available to functionally compensate for alpha-galactosidase deficiency. Agalsidase alpha and beta are both recombinant forms of the human α-galactosidase A enzyme and both have the same amino acid sequence as the native enzyme. Agalsidase alpha and beta differ in the structures of their oligosaccharide side chains.^[3]

Agalsidase alfa

The pharmaceutical company Shire manufactures agalsidase alfa (INN) under the trade name Replagal as a treatment for Fabry's disease,^[4] and was granted marketing approval in the EU in 2001.^[5] FDA approval was applied for the United States.^[6] However in 2012, Shire withdrew their application for approval in the United States citing that the agency will require additional clinical trials before approval.^[7]

Agalsidase beta

The pharmaceutical company Genzyme produces synthetic agalsidase beta (INN) under the trade name Fabrazyme for treatment of Fabry's disease. In 2009, contamination at Genzyme's Allston, Massachusetts plant caused a worldwide shortage of Fabrazyme, and supplies were rationed to patients at one-third the recommended dose. Some patients have petitioned to break the company's patent on the drug under the "march-in" provisions of the Bayh–Dole Act.^[6]

Over-the-counter brand names

Alpha-galactosidase is an active ingredient in Beano, Suntaqzyme, Bean-zyme, and Gas-zyme 3x, Bloateez (India) marketed as products to reduce stomach gas production after eating foods known to cause gas. It is optimally active at 55 degrees C, after which its half-life is 120 minutes.^[8]

References

^ Calhoun DH, Bishop DF, Bernstein HS, Quinn M, Hantzopoulos P, Desnick RJ (1985). "Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A". Proceedings of the National Academy of Sciences of the United States of America 82 (21): 7364–8. Bibcode:1985PNAS...82.7364C. doi:10.1073/pnas.82.21.7364. PMC 391345. PMID 2997789.
^ "Entrez Gene: GLA galactosidase, alpha".
^ Fervenza FC, Torra R, Warnock DG (December 2008). "Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease". Biologics 2 (4): 823–43. doi:10.2147/btt.s3770. PMC 2727881. PMID 19707461.
^ Keating GM (October 2012). "Agalsidase alfa: a review of its use in the management of Fabry disease". BioDrugs 26 (5): 335–54. doi:10.2165/11209690-000000000-00000. PMID 22946754.
^ "Shire Submits Biologics License Application (BLA) for REPLAGAL with the U.S. Food and Drug Administration (FDA)". FierceBiotech.
^ ^a ^b "With A Life-Saving Medicine In Short Supply, Patients Want Patent Broken". 2010-08-04. Archived from the original on 14 September 2010. Retrieved 2010-09-02.
^ Grogan K (2012-03-15). "Shire withdraws Replagal in USA as FDA wants more trials". PharmaTimes.
^ Patil AG, K PK, Mulimani VH, Veeranagouda Y, Lee K (2010). "alpha-Galactosidase from Bacillus megaterium VHM1 and its application in removal of flatulence-causing factors from soymilk". Journal of Microbiology and Biotechnology 20 (11): 1546–54. doi:10.4014/jmb.0912.12012. PMID 21124061.

External links

alpha-Galactosidase at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Molecular and Cellular Biology portal

UpToDate Contents

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1. 腸内ガスと膨満 intestinal gas and bloating
2. ファブリー病の治療 treatment of fabry disease
3. 心疾患を伴うファブリー病の臨床的特徴、診断、およびマネージメント clinical features diagnosis and management of patients with fabry disease with cardiac disease
4. ファブリー病の神経症状 neurologic manifestations of fabry disease
5. ファブリー病の臨床的特徴および診断 clinical features and diagnosis of fabry disease

English Journal

Quality of life in patients with Fabry disease: a systematic review of the literature.

Arends M1, Hollak CE2, Biegstraaten M3.
Orphanet journal of rare diseases.Orphanet J Rare Dis.2015 Jun 16;10(1):77. [Epub ahead of print]
Fabry disease (FD), caused by deficiency of the lysosomal enzyme α-galactosidase-A, is a progressive multisystem disease. The disease is X-linked with generally more severe manifestations in males, but can impact on quality of life (QoL) of both male and female patients. The purpose of this literat
PMID 26076709

Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease.

Patel V1, O'Mahony C1, Hughes D2, Rahman MS3, Coats C1, Murphy E4, Lachmann R4, Mehta A2, Elliott PM1.
Heart (British Cardiac Society).Heart.2015 Jun 15;101(12):961-6. doi: 10.1136/heartjnl-2014-306782. Epub 2015 Feb 5.
BACKGROUND: Anderson-Fabry Disease (AFD) is an X linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Some mutations are associated with prominent and, in many cases, exclusive cardiac involvement. The primary aims of this study were to determine the incidence of maj
PMID 25655062

Trehalose Analogues: Latest Insights in Properties and Biocatalytic Production.

Walmagh M1, Zhao R2, Desmet T3.
International journal of molecular sciences.Int J Mol Sci.2015 Jun 15;16(6):13729-13745.
Trehalose (α-d-glucopyranosyl α-d-glucopyranoside) is a non-reducing sugar with unique stabilizing properties due to its symmetrical, low energy structure consisting of two 1,1-anomerically bound glucose moieties. Many applications of this beneficial sugar have been reported in the novel food (nut
PMID 26084050

Japanese Journal

New mutations in the GLA gene in Brazilian families with Fabry disease

Turaca Lauro Thiago,Pessoa Juliana Gilbert,Motta Fabiana Louise [他],MUNOZ ROJAS Maria Veronica,MULLER Karen Barbosa,LOURENCO Charles Marques,MARQUES Wilson Junior,D'ALMEIDA Vania,MARTINS Ana Maria,PESQUERO Joao Bosco
Journal of human genetics 57(6), 347-351, 2012-06-01
NAID 10030807905

Clinical and Genetic Investigation of a Japanese Family With Cardiac Fabry Disease: Identification of a Novel α-Galactosidase A Missense Mutation (G195V) (心臓Fabry病の1家族についての臨床的並びに遺伝的研究)

中川直樹,Maruyama Hiroki,Ishihara Takayuki,Seino Utako,Kawabe Jun-ichi,Takahashi Fumihiko,Kobayashi Motoi,Yamauchi Atsushi,Sasaki Yukie,Sakamoto Naka,Ota Hisanobu,Tanabe Yasuko,Takeuchi Toshiharu,Takenaka Toshihiro,Kikuchi Kenjiro,Hasebe Naoyuki
International Heart Journal 52(5), 308-311, 2011
… 雑誌掲載版J-STAGE掲載版使用https://www.jstage.jst.go.jp/browse/-char/jaFabry病はα-galactosidase A遺伝子(GLA)の変異によるX染色体関連リソゾーム貯蔵障害に基づく疾患で、特発性肥大型心筋症に似た左室肥大を伴うことがある。 … LGEはα-galactosidase活性低下とともに著明化した。 …
NAID 130001088315

ファブリー病患者における加齢と聴力障害との関係

山本浩志,坪井一哉,伊藤太
交通医学 64(3・4), 120-125, 2010-07
NAID 40018705270

Related Pictures

Alpha Galactosidase Gaz - Boursoufler Alpha-Galactosidase Enzyme Tablets 30 Alpha-galactosidase Molecule E1 alpha - galactosidase . Alpha-Galactosidase; alpha-d-galactoside File:A-Galactosidase A 01.svg - Wikimedia

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関連記事	「alpha」

「α-ガラクトシダーゼ」

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PMC	articles
PubMed	articles
NCBI	proteins

alpha-galactosidase
Identifiers
EC number	3.2.1.22
CAS number	9025-35-8
Databases
IntEnz	IntEnz view
BRENDA	BRENDA entry
ExPASy	NiceZyme view
KEGG	KEGG entry
MetaCyc	metabolic pathway
PRIAM	profile
PDB structures	RCSB PDB PDBe PDBsum
Gene Ontology	AmiGO / EGO
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PMC	articles
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NCBI	proteins

Galactosidase, alpha
	PDB rendering based on 1r46.
Available structures
PDB	Ortholog search: PDBe, RCSB
List of PDB id codes
	1R46, 1R47, 3GXN, 3GXP, 3GXT, 3HG2, 3HG3, 3HG4, 3HG5, 3LX9, 3LXA, 3LXB, 3LXC, 3S5Y, 3S5Z, 3TV8, 4NXS
Identifiers
Symbols	GLA ; GALA
External IDs	OMIM: 300644 MGI: 1347344 HomoloGene: 90852 ChEMBL: 2524 GeneCards: GLA Gene
EC number	3.2.1.22
Gene ontology
Molecular function	• catalytic activity; • alpha-galactosidase activity; • receptor binding; • protein binding; • hydrolase activity; • galactoside binding; • protein homodimerization activity; • raffinose alpha-galactosidase activity;
Cellular component	• extracellular region; • cytoplasm; • lysosome; • Golgi apparatus; • lysosomal lumen; • extracellular exosome;
Biological process	• sphingolipid metabolic process; • glycosphingolipid metabolic process; • oligosaccharide metabolic process; • glycoside catabolic process; • small molecule metabolic process; • negative regulation of nitric oxide biosynthetic process; • glycosylceramide catabolic process; • glycosphingolipid catabolic process; • negative regulation of nitric-oxide synthase activity;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs
	v; t; e;

　　[★]

英: alpha-galactosidase, α-galactosidase
関: α-ガラクトシダーゼA

「alpha」

　　[★]

α、アルファ

関: alfa

[pmid2997789-1] Calhoun DH, Bishop DF, Bernstein HS, Quinn M, Hantzopoulos P, Desnick RJ (1985). "Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A". Proceedings of the National Academy of Sciences of the United States of America 82 (21): 7364–8. Bibcode:1985PNAS...82.7364C. doi:10.1073/pnas.82.21.7364. PMC 391345. PMID 2997789.

[2] "Entrez Gene: GLA galactosidase, alpha".

[pmid19707461-3] Fervenza FC, Torra R, Warnock DG (December 2008). "Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease". Biologics 2 (4): 823–43. doi:10.2147/btt.s3770. PMC 2727881. PMID 19707461.

[pmid22946754-4] Keating GM (October 2012). "Agalsidase alfa: a review of its use in the management of Fabry disease". BioDrugs 26 (5): 335–54. doi:10.2165/11209690-000000000-00000. PMID 22946754.

[url_FierceBiotech-5] "Shire Submits Biologics License Application (BLA) for REPLAGAL with the U.S. Food and Drug Administration (FDA)". FierceBiotech.

[npr-6] "With A Life-Saving Medicine In Short Supply, Patients Want Patent Broken". 2010-08-04. Archived from the original on 14 September 2010. Retrieved 2010-09-02.

[www.pharmatimes.com-7] Grogan K (2012-03-15). "Shire withdraws Replagal in USA as FDA wants more trials". PharmaTimes.

[8] Patil AG, K PK, Mulimani VH, Veeranagouda Y, Lee K (2010). "alpha-Galactosidase from Bacillus megaterium VHM1 and its application in removal of flatulence-causing factors from soymilk". Journal of Microbiology and Biotechnology 20 (11): 1546–54. doi:10.4014/jmb.0912.12012. PMID 21124061.

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alpha-galactosidase