Biosynthesis of 5α-Cholestan-3β-ol in Cerebrotendinous Xanthomatosis

Salen, Gerald; Polito, A.

doi:10.1172/jci106783

Cited by 33 publications

(6 citation statements)

References 12 publications

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“…Three subjects (E. D. E., E. D. S., and J. C.) suffered from the rare inherited lipidosis, cerebrotendinous xanthomatosis. Complete clinical and biochemical descriptions of these patients have appeared elsewhere (9)(10)(11). Four subjects (T. S., R. P., I. R., and K. S.) had radiolucent gallstones demonstrated by oral cholecystography.…”

Section: Methodsmentioning

confidence: 99%

Increased formation of ursodeoxycholic acid in patients treated with chenodeoxycholic acid.

Salen¹,

Tint²,

Eliav³

et al. 1974

J. Clin. Invest.

140

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Section: Methodsmentioning

confidence: 99%

Increased formation of ursodeoxycholic acid in patients treated with chenodeoxycholic acid.

Salen¹,

Tint²,

Eliav³

et al. 1974

J. Clin. Invest.

140

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“…Literature review included 91 unique publications reporting case series of CTX patients (Menkes et al 1968;Schimschock et al 1968;Stahletal1971;Salen and Polito 1972;…”

Section: Summary Of Literature Reviewmentioning

confidence: 99%

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis

Wong

Walsh

Hayden

et al. 2018

J of Inher Metab Disea

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“…Although the precise pathway was not completely elucidated, cholestanol was shown to have originated! endogenously from cholesterol (29). Two experiments were presented: (a) the direct transformation of [4-14C] (27).…”

Section: Plasma Cholesterol and Cholestanol Concentrationsmentioning

confidence: 99%

The Metabolism of Cholestanol, Cholesterol, and Bile Acids in Cerebrotendinous Xanthomatosis

Salen¹,

Grundy²

1973

J. Clin. Invest.

Self Cite

163

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A B S T R A C T The metabolism of cholesterol and its 5-dihydro derivative, cholestanol, was investigated by means of sterol balance and isotope kinetic techniques in 3 subjects with cerebrotendinous xanthomatosis (CTX) and 11 other individuals. All subjects were hospitalized on a metabolic ward and were fed diets practically free of cholesterol and cholestanol. After the intravenous administration of [1,2-3H]cholestanol, the radioactive sterol was transported and esterified in plasma lipoproteins in an identical manner to cholesterol. In these short-term experiments, the specific activity-time curves of plasma cholestanol conformed to two-pool models in both the CTX and control groups. However, cholestanol plasma concentrations, total body miscible pools, and daily synthesis rates were two to five times greater in the CTX than control individuals. The short-term specific activity decay curves of plasma [4Y'tC]cholesterol also conformed to two-pool models in both groups. However, in the CTX subjects the decay was more rapid, and daily cholesterol synthesis was nearly double that of the control subjects. Plasma concentrations and the sizes of the rapidly turning over pool of exchangeable cholesterol were apparently small in the CTX subjects, and these measurements did not correlate with the large cholesterol deposits found in tendon and tuberous xanthomas.Despite active cholesterol synthesis, bile acid formation was subnormal in the CTX subjects. However, bile acid sequestration was accompanied by a rise in plasma cholestanol levels and greatly augmented fecal cholesDr.

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Biosynthesis of 5α-Cholestan-3β-ol in Cerebrotendinous Xanthomatosis

Cited by 33 publications

References 12 publications

Increased formation of ursodeoxycholic acid in patients treated with chenodeoxycholic acid.

Increased formation of ursodeoxycholic acid in patients treated with chenodeoxycholic acid.

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis

The Metabolism of Cholestanol, Cholesterol, and Bile Acids in Cerebrotendinous Xanthomatosis

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