Niemann–Pick disease type C

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

1997 • 1,440 citations

Biochemical evidence that Patched is the Hedgehog receptor

1996 • 852 citations

Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene

1997 • 797 citations

A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.

1985 • 393 citations

Intracellular Trafficking of Cholesterol Monitored with a Cyclodextrin

1996 • 366 citations

Intracellular cholesterol transport

1997 • 295 citations

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

1987 • 249 citations

Intracellular Cholesterol Transport and Compartmentation

1995 • 226 citations

Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

1996 • 222 citations

Decreased lysosomal storage in the adult MPS VII mouse brain in the vicinity of grafts of retroviral vector-corrected fibroblasts secreting high levels of β-glucuronidase

1997 • 158 citations

The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol

1994 • 121 citations

Linkage of Niemann-Pick disease type C to human chromosome 18.

1993 • 120 citations

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.

1994 • 114 citations

Isolation and characterization of Chinese hamster ovary cell mutants defective in intracellular low density lipoprotein-cholesterol trafficking.

1990 • 109 citations

GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C

1997 • 95 citations

Quantitative analysis of hydrophobic amine inhibition of intracellular cholesterol transport.

1996 • 84 citations

Pyramidal neurons with ectopic dendrites in storage diseases exhibit increased GM2 ganglioside immunoreactivity

1995 • 54 citations

Niemann-Pick Disease Type C

1996 • 40 citations

Intracellular trafficking of the free cholesterol derived from LDL cholesteryl ester is defective in vivo in Niemann-Pick C disease: insights on normal metabolism of HDL and LDL gained from the NP-C mutation

1997 • 39 citations

Co‐cultivation of Niemann‐Pick disease type C fibroblasts belonging to complementation groupsα andβ stimulates LDL‐derived cholesterol esterification

1996 • 32 citations

A molecular genetic linkage map of mouse chromosome 18, includingspm, Grl-1, Fim-2/c-fms, andMbp

1991 • 32 citations

Linkage of Niemann-Pick Disease Type D to the Same Region of Human Chromosome 18 as Niemann-Pick Disease Type C

1997 • 30 citations

Substantial narrowing of the Niemann–Pick C candidate interval by yeast artificial chromosome complementation

1997 • 28 citations

Accumulation of GM2 Ganglioside in Niemann-Pick Disease Type C Fibroblasts.

1996 • 27 citations

Elevated GM2 ganglioside is associated with dendritic proliferation in normal developing neocortex

1996 • 26 citations

Restoration of the cholesterol metabolism in 3T3 cell lines derived from the sphingomyelinosis mouse (spm/spm) by transfer of a human chromosome 18

1993 • 25 citations

Biological Implications of the Niemann-Pick C Mutation

1997 • 22 citations

TRANSPLANTATION OF FETAL LIVER CELLS CORRECTS ACCUMULATION OF LIPIDS IN TISSUES AND PREVENTS FATAL NEUROPATHY IN CHOLESTEROL-STORAGE DISEASE BALB/C MICE

1996 • 11 citations

Niemann-Pick disease type C. From bench to bedside

1996 • 7 citations