Sphingomyelinase activity levels in human peripheral blood leukocytes, using [3H]sphingomyelin as substrate: study of heterozygotes and homozygotes for Niemann-pick disease variants

Zitman, D.; Chazan, Shoshana; Klibansky, Chaya

doi:10.1016/0009-8981(78)90455-2

Cited by 15 publications

(6 citation statements)

References 11 publications

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“…mation since it shows the same pH optimum as in other cells (3,14,37) or tissues (33). Activity levels in normal LCL were slightly higher than in blood leukocytes (3,14,21,37). Moreover, LCL have only one molecular form (PI 5.8): these results agree with those reported by the same procedures on blood leukocytes, lymphocytes, and human brain (19).…”

Section: Discussionsupporting

confidence: 85%

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New Tools for the Study of Niemann-Pick Disease: Analogues of Natural Substrate and Epstein-Barr Virus-transformed Lymphoid Cell Lines

Levade

Salvayre

Bes³

et al. 1985

Pediatr Res

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Section: Discussionsupporting

confidence: 85%

“…mation since it shows the same pH optimum as in other cells (3,14,37) or tissues (33). Activity levels in normal LCL were slightly higher than in blood leukocytes (3,14,21,37).…”

Section: Discussionmentioning

confidence: 78%

New Tools for the Study of Niemann-Pick Disease: Analogues of Natural Substrate and Epstein-Barr Virus-transformed Lymphoid Cell Lines

Levade

Salvayre

Bes³

et al. 1985

Pediatr Res

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“…Amniotic fluid cell cultures were grown in Ham's F 10 medium containing 30 per cent fetal calf serum and 100 I.U./ml penicillin, 100 pgfml streptomycin and 100 I.U./ml mycostatin. Cultures were fed twice weekly, detached by trypsinization and subcultured (Chazan et al, 1978).…”

Section: Methodsmentioning

confidence: 99%

“…Glucocerebrosidase assay was performed as described previously (Chazan et al, 1978;Klibansky et al, 1974).…”

Section: Methodsmentioning

confidence: 99%

“…Deficiency of sphingomyelinase, an enzyme which catalyses cleavage of phosphatidylcholine from sphingomyelin, has been demonstrated in patients with two types, A and B, of this disorder (Frederickson and Sloan, 1972;Brady et al, 1966;Schneider and Kennedy, 1967). Due to the feasibility of sphingomyelinase-activity determinations in amniotic fluid cell cultures the prenatal diagnosis of the lethal, infantile neuronopathic form, Niemann-Pick disease type A, is at present possible (Chazan et al, 1978;Epstein et al, 1971 ;Schneider et al, 1972).…”

Section: Introductionmentioning

confidence: 99%

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Chemical and biochemical studies in fetuses affected with nieman‐pick disease type A

et al. 1982

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Chemical and biochemical studies were performed on two unrelated fetuses affected with Niemann-Pick disease type A, following abortion at about the 19th week of gestation. Abortion was performed as a consequence of previous findings, in amniotic fluid cell cultures, that sphingomyelinase activity was completely absent. Phospholipid analyses of various organs of the fetuses, spleen and liver were the organs mostly affected. Interestingly enough considerable accumulation of sphingomyelin was found in the placenta. The brain was the only organ in which sphingomyelin storage could not be proved. In addition to sphingomyelin a slight accumulation of cholesterol was noticed. Deficiency of sphingomyelinase activity measured at pH 5.0 was the general characteristic of the affected tissues. It is concluded that the accumulation of sphingomyelin in various organs throughout the body of fetuses affected with Niemann-Pick disease is suggestive of the essential role of the enzyme sphingomyelinase and its biochemical maturation, even during the early stages of gestation.

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Lysosomal‘acid’ hydrolases in normal individuals controls and patients with inborn errors of metabolism

1983

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Using commercially available artificial substrates, a number of lysosomal‘acid’ hydrolases in plasma, leucocytes and cultured skin fibroblasts from normal individuals, controls and patients with inborn errors of metabolism affecting lysosomal enzymes have been investigated. The pH optima, Km values and temperature‐activity profiles are reported, but some of the physiochemical parameters of the catalytic properties of the normal enzymes are not those that would be expected for mammalian system. Temperature optima of α‐L‐fucosidase, α‐L‐iduronidase, sphingomyelinase and β‐D‐glucuronidase were different in different sources and differences were seen in different enzymes from the same source. Only sphingomyelinase in leucocytes and α‐L‐iduronidase in leucocytes and fibro‐blasts showed maximum activity at 37°C, with other enzymes showing an unusually high optimum of 50°C or greater. Lysosomal enzymes from patients with inborn errors of metabolism showed maximum activity at the same temperature as observed in normal individuals with the exception of α‐L‐fucosidase, β‐D‐glucuronidase and α‐N‐acetyle‐D‐glucosaminidase in plasma from a patient with mucolipidosis II and β‐D‐glucuronidase in plasma from a patient with mucopolysaccharidosis type IIIA.

show abstract

Sphingomyelinase activity levels in human peripheral blood leukocytes, using [3H]sphingomyelin as substrate: study of heterozygotes and homozygotes for Niemann-pick disease variants

Cited by 15 publications

References 11 publications

New Tools for the Study of Niemann-Pick Disease: Analogues of Natural Substrate and Epstein-Barr Virus-transformed Lymphoid Cell Lines

New Tools for the Study of Niemann-Pick Disease: Analogues of Natural Substrate and Epstein-Barr Virus-transformed Lymphoid Cell Lines

Chemical and biochemical studies in fetuses affected with nieman‐pick disease type A

Lysosomal‘acid’ hydrolases in normal individuals controls and patients with inborn errors of metabolism

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