関: Gb3

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/09/03 08:19:55」(JST)

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Globotriaosylceramide (R is a carbon chain)

Globotriaosylceramide is a ganglioside.^[1]

It is also known as CD77, Gb3, and ceramide trihexoside.^[2] It is one of the few clusters of differentiation that is not a protein.

It is formed by the alpha linkage of galactose to lactosylceramide catalyzed by A4GALT.

It is metabolized by alpha-galactosidase, which hydrolyzes the terminal alpha linkage.

Clinical significance

Defects in the enzyme alpha-galactosidase lead to the buildup of globotriaosylceramide, causing Fabry's disease.^[3] The pharmaceutical drug migalastat enhances the function of alpha-galactosidase and is used to treat Fabry's.

Globotriaosylceramide is also one of the targets of Shiga toxin, which is responsible for pathogenicity of enterohemorrhagic Escherichia coli (EHEC). Additionally, many studies have found that globotriaosylceramide is the primary receptor for the Cholera toxin, the main mechanism by which Vibrio cholerae infections elicits severe diarrhea.

References

^ globotriaosylceramide at the US National Library of Medicine Medical Subject Headings (MeSH)
^ Bekri S, Lidove O, Jaussaud R, Knebelmann B, Barbey F (October 2006). "The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature". Cardiovasc Hematol Agents Med Chem. 4 (4): 289–97. doi:10.2174/187152506778520718. PMID 17073606.
^ Desnick RJ, Ioannou YA, Eng CM. a-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic & molecular bases of inherited disease. 8th ed. Vol. 3. New York: McGraw-Hill, 2001:3733-74.

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UpToDate Contents

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1. ファブリー病の臨床的特徴および診断 clinical features and diagnosis of fabry disease
2. ファブリー病の治療 treatment of fabry disease
3. ファブリー病の神経症状 neurologic manifestations of fabry disease
4. 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
5. 腸管出血性大腸菌（EHEC）の微生物学、病因、疫学、および予防 microbiology pathogenesis epidemiology and prevention of enterohemorrhagic escherichia coli ehec

English Journal

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain.

Choi L1, Vernon J1, Kopach O1, Minett MS1, Mills K1, Clayton PT1, Meert T1, Wood JN2.
Neuroscience letters.Neurosci Lett.2015 May 6;594:163-8. doi: 10.1016/j.neulet.2015.01.084. Epub 2015 Feb 16.
Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy. Globotriaosylsphingosine (lyso-Gb3), a deacylated form of globotriaosylce
PMID 25697597

A heterozygous female with Fabry disease due to a novel α-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes.

Takahashi N, Yokoi S, Kasuno K, Kogami A, Tsukimura T, Togawa T, Saito S, Ohno K, Hara M, Kurosawa H, Hirayama Y, Kurose T, Yokoyama Y, Mikami D, Kimura H, Naiki H, Sakuraba H, Iwano M.
Clinical nephrology.Clin Nephrol.2015 May;83(5):301-8. doi: 10.5414/CN108317.
We report the case of a 42-yearold woman diagnosed with heterozygous Fabry disease (FD) due to a novel α-galactosidase A Pro210Ser mutation and exhibiting a unique distribution of synaptopodin within podocytes. The patient was referred to our hospital with moderate proteinuria, and a renal biopsy w
PMID 25295576

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Germain DP1, Charrow J2, Desnick RJ3, Guffon N4, Kempf J5, Lachmann RH6, Lemay R5, Linthorst GE7, Packman S8, Scott CR9, Waldek S10, Warnock DG11, Weinreb NJ12, Wilcox WR13.
Journal of medical genetics.J Med Genet.2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20.
BACKGROUND: Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We assessed the 10-year outcome of recombinant α-galactosidase A therapy.METHODS: The outcomes (sev
PMID 25795794