Fucosidosis: genetic and biochemical analysis of eight cases.

Cragg, Helen; Williamson, Magali; Young, Elisabeth; O’Brien, John S.; Alhadeff, Jack A.; Fang-Kircher, S; Paschke, Eduard; Winchester, Bryan

doi:10.1136/jmg.34.2.105

Cited by 27 publications

(15 citation statements)

References 28 publications

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“…All these mutations including the missense mutations result in nearly absent α-l-fucosidase enzymatic activity and severely deficient cross-reacting immunomaterial (CRIM), indicating that the mutant fucosidase proteins are unstable and degrade rapidly. 5,6 All but two mutations were found in homozygous form, confirming the very high rate of consanguinity found in fucosidosis families. 4 The different mutations are discussed below.…”

Section: Fucosidosis Mutationssupporting

confidence: 61%

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Spectrum of mutations in fucosidosis

et al. 1999

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Fucosidosis is a lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and growth retardation. It is due to deficient α-l-fucosidase activity leading to accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Fucosidosis is extremely rare with less than 100 patients reported worldwide, although the disease occurs at a higher rate in Italy, in the Hispanic-American population of New Mexico and Colorado, and in Cuba. We present here a review study of the mutational spectrum of fucosidosis. Exon by exon mutation analysis of FUCA1, the structural gene of α-l-fucosidase, has identified the mutation(s) in nearly all fucosidosis patients investigated. The spectrum of the 22 mutations detected to date includes four missense mutations, 17 nonsense mutations consisting of seven stop codon mutations, six small deletions, two large deletions, one duplication, one small insertion and one splice site mutation. All these mutations lead to nearly absent enzymatic activity and severely reduced cross-reacting immunomaterial. The observed clinical variability is, therefore, not due to the nature of the fucosidosis mutation, but to secondary unknown factors.

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Section: Fucosidosis Mutationssupporting

confidence: 61%

“…All fucosidosis patients have nearly absent α-l-fucosidase enzyme activity. 5,6 In this molecular review study we present the spectrum of mutations in FUCA1 responsible for polymorphisms and fucosidosis.…”

Section: Introductionmentioning

confidence: 99%

Spectrum of mutations in fucosidosis

et al. 1999

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“…The premature stop codon resulted in a truncated protein of 226-461 amino acids long. Only six small deletions have been reported worldwide (Seo et al, 1993a(Seo et al, ,b, 1994Cragg et al, 1997).…”

Section: Discussionmentioning

confidence: 99%

Novel mutations in the FUCA1 gene that cause fucosidosis

Panmontha¹,

Amarinthnukrowh²,

Damrongphol³

et al. 2016

Genet. Mol. Res.

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“…Its clinical importance is exemplified by the disease fucosidosis, al ysosomal storagedisorder caused by deficient a-lfucosidase activity due to genetic defect. [1] It is also known that an abnormal increase in a-l-fucosidase activity is associated with several pathological conditions, such as inflammation, [2] carcinomao ft he stomach, ovary, [3] and liver, [4] cystic fibrosis, [5] and bacterial infection. [6] We previously reported the releaseo fh uman a-l-fucosidase in responset oHelicobacter pylori infection.…”

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confidence: 99%

Detection of Human α‐L‐Fucosidases by a Quinone Methide‐Generating Probe: Enhanced Activities in Response to Helicobacter pylori Infection

et al. 2015

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α-L-Fucosidase activity is associated with several diseases. To study the enzymatic activity change under pathological conditions, we developed a quinone methide-generating activity-based probe useful for examining the presence, activity, and localization of human α-L-fucosidase in vivo in the context of Helicobacter pylori infection. In particular, an increase in intracellular fucosidase (Fuca1) activity was found in gastric epithelial cells upon bacterial infection. We further studied the effect of several bacterial stimulants on this enhanced Fuca1 activity and identified lipopolysaccharides to be a major contributing factor.

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Fucosidosis: genetic and biochemical analysis of eight cases.

Abstract: The molecular basis of the deficiency of a-

Cited by 27 publications

References 28 publications

Spectrum of mutations in fucosidosis

Spectrum of mutations in fucosidosis

Novel mutations in the FUCA1 gene that cause fucosidosis

Detection of Human α‐L‐Fucosidases by a Quinone Methide‐Generating Probe: Enhanced Activities in Response to Helicobacter pylori Infection

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