Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol

PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT

1951 • 319,299 citations

A Receptor-Mediated Pathway for Cholesterol Homeostasis

1986 • 5,638 citations

Procedure for determination of free and total cholesterol in micro- or nanogram amounts suitable for studies with cultured cells.

1978 • 561 citations

Regulation of 3-Hydroxy-3-methylglutaryl Coenzyme A Reductase Activity in Cultured Human Fibroblasts

1974 • 545 citations

Regulation of the activity of the low density lipoprotein receptor in human fibroblasts

1975 • 477 citations

Cholesterol ester formation in cultured human fibroblasts. Stimulation by oxygenated sterols.

1975 • 364 citations

Cystine Transport Is Defective in Isolated Leukocyte Lysosomes from Patients with Cystinosis

1982 • 355 citations

The intracellular transport of low density lipoprotein-derived cholesterol is inhibited in Chinese hamster ovary cells cultured with 3-β-[2-(diethylamino)ethoxy]androst-5-en-17-one

1989 • 315 citations

The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts.

1989 • 306 citations

THE CEREBRAL DEFECT IN TAY‐SACHS DISEASE AND NIEMANN‐PICK DISEASE*

1961 • 258 citations

Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts.

1987 • 249 citations

Analysis of the distribution of cholesterol in the intact cell.

1983 • 237 citations

Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol.

1988 • 230 citations

Group C Niemann‐Pick disease: faulty regulation of low‐density lipoprotein uptake and cholesterol storage in cultured fibroblasts

1987 • 196 citations

A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol.

1984 • 188 citations

A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase

1980 • 183 citations

Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients

1988 • 183 citations

Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts.

1986 • 167 citations

Clinical spectrum of Niemann‐Pick disease type C

1989 • 158 citations

Defective Sialic Acid Egress from Isolated Fibroblast Lysosomes of Patients with Salla Disease

1986 • 146 citations

The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease.

1986 • 134 citations

Transfer of cholesterol from its site of synthesis to the plasma membrane.

1984 • 122 citations

Increase in membrane cholesterol: A possible trigger for degradation of HMG CoA reductase and crystalloid endoplasmic reticulum in UT-1 cells

1984 • 118 citations

Abnormal cholesterol metabolism in imipramine-treated fibroblast cultures. Similarities with Niemann-Pick type C disease

1990 • 93 citations

Smooth microsomes. a trap for cholesteryl ester formed in hepatic microsomes.

1980 • 69 citations

Cyclic AMP mediated modification of cholesterol traffic in Leydig tumor cells.

1987 • 66 citations

Quantification of low density lipoprotein binding and cholesterol accumulation by single human fibroblasts using fluorescence microscopy.

1980 • 63 citations

Lipid storage disorders : biological and medical aspects

1988 • 44 citations

Niemann-Pick Disease Types C and D

1989 • 42 citations