Deficiency of arylsulfatase C in cultured skin fibroblasts of X-linked ichthyosis

Meyer, J; Weiss, H.; Grundmann, H. P.; Würsch, T. G.; Schnyder, U. W.

doi:10.1007/bf00289462

Cited by 35 publications

(15 citation statements)

References 12 publications

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“…70,71 STS deficiency underlying XLI is demonstrated by reduced arylsulfatase-C activity of leukocytes or cultured fibroblasts. [72][73][74][75] Elevated blood cholesterol sulfate levels with increased mobility of beta-lipoproteins are also diagnostic. 76 In Refsum syndrome (PHYH/PEX7), increased phytanic acid and reduced pristanic acid levels in plasma are diagnostic in conjunction with the clinical phenotype.…”

Section: Ichthyoses/medoc M Schmuth Et Almentioning

confidence: 99%

Inherited ichthyoses/generalized Mendelian disorders of cornification

et al. 2012

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Section: Ichthyoses/medoc M Schmuth Et Almentioning

confidence: 99%

Inherited ichthyoses/generalized Mendelian disorders of cornification

et al. 2012

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“…Its reinvestigation was warranted by two facts. The first was the recent establishment of XRI as STS and ASC deficiency [12][13][14][15], The sec ond was the apparent discrepancy between the status of the proband's daughter (V/4) in 1928 and in 1967 (reinvestigated several times, for the last time in 1984). This person was described by Csorsz [3] undoubtedly as an ichthyotic patient; however, she failed to show any sign of that skin disorder either in 1967, when we started the investigation of Fig.…”

Section: Resultsmentioning

confidence: 99%

X-Linked Recessive Ichthyosis

Schlammadinger¹,

Meyer

Vajda

et al. 1987

Dermatology

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Recent findings in a family with X-linked recessive ichthyosis are presented. The first description of this family in the literature was given and correctly diagnosed by Csörsz in 1928. His paper can be considered one of the most widely cited proofs of the existence of X-linked ichthyosis. The extended pedigree as well as data of steroid sulfatase and arylsulfatase C determinations presented in this paper verify the diagnosis of the X-linked mode of inheritance of ichthyosis in this family. The biochemical investigations carried out on leukocytes of family members resulted not only in a confirmation of the clinico-genetic diagnosis, but they also helped to establish the heterozygous genotype of a female mentioned previously as an affected person.

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“…Normal human skin fibroblasts were cultivated from foreskin or from skin biopsies as described earlier [3]. in short: Skin fibroblasts were grown from explant cultures in I lEPES-buffered DMF.M contain ing 10% fetal calf scrum for 2-3 passages in Falcon plastic flasks (25 cm ) and then transferred to roller bottles.…”

Section: Cultured Skin Fibroblasts Leukocytesmentioning

confidence: 99%

“…The induction of this process is retarded in the group of ichthyosis, which is characterized by retention hyperkeratosis, like ichthyosis vulgaris, X-linkcd ichthyosis and lamellar ichthyosis [ 11. The deficiency of microsomal sulfatase in X-linkcd ich thyosis [2][3][4] has drawn attention onto the role of nega tively charged groups as sulfate, phosphate and carboxyl groups contributing to the cohesion properties of cornco cytes [5,6). Enzymes like sulfatases and phosphatases might therefore be involved in the process of cornification and desquamation [6,7).…”

Section: Introductionmentioning

confidence: 99%

Properties of Acid Phosphatase in Human Stratum corneum

Meyer

Grundmann²,

Knabenhans³

1990

Dermatology

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Sheets of stratum corneum were prepared by a trypsinization procedure from human skin samples, homogenized with a freeze press and then fractionated into a soluble fraction and a sediment by centrifugation at 50,000 g. Acid phosphatase (AcP) activity was found in both fractions but the bulk of the activity was detected in the supernatant. Highest activities were observed after treatment with Triton X-100. The bulk of the AcP activity remained bound to the pellet if suspension and fractionation of the homogenized stratum corneum were performed in acetate buffer in the range between pH 4.0–5.0, probably due to ionic or hydrophobic interactions. AcP activity was totally lost if homogenates or fractions were stored frozen at –20°C in buffers with pH values lower than 4.0. Triton X-100 extracts from whole skin, epidermis, stratum corneum, cultured skin fibroblasts and leukocytes were compared by isoelectric focusing. Extracts from whole skin, epidermis and stratum corneum yielded almost identical patterns with one main AcP activity band at pi of 5.65 whereas a second pronounced band from whole skin behaved similarly to one band from cultured skin fibroblasts and leukocytes (pI 6.1). The prominent band from extracts of stratum corneum and epidermis was not observed in extracts of skin fibroblasts and leukocytes. Hence we conclude that stratum corneum and epidermis contain a tissue-specific AcP.

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Deficiency of arylsulfatase C in cultured skin fibroblasts of X-linked ichthyosis

Cited by 35 publications

References 12 publications

Inherited ichthyoses/generalized Mendelian disorders of cornification

Inherited ichthyoses/generalized Mendelian disorders of cornification

X-Linked Recessive Ichthyosis

Properties of Acid Phosphatase in Human Stratum corneum

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