Scientific Commons: Peter G. Pentchev

Isolation of NPC1-Deficient Chinese Hamster Ovary Cell Mutants by Gene Trap Mutagenesis (2001)

Higaki, Katsumi, Ninomiya, Haruaki, Sugimoto, Yuko, Suzuki, Tatsuya, Taniguchi, Miyako, Niwa, Hitoshi, ...

Chinese hamster ovary cell mutants defective in the NPC1 gene (NPC1-trap) were generated by retrovirus-mediated gene trap mutagenesis from a parental cell line JP17 expressing an ecotropic retrovirus...

Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse (2000)

Liu, Yujing, Wu, Yun-Ping, Wada, Ryuichi, Neufeld, Edward B., Mullin, Katherine A., Howard, April C., ...

Niemann–Pick disease Type C (NP-C) is a progressive neurodegenerative disorder caused by mutations in the NPC1 gene and characterized by intracellular accumulation of cholesterol and...

Niemann-Pick C1 protein: Obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization

Watari, Hidemichi, Blanchette-Mackie, E. Joan, Dwyer, Nancy K., Glick, Jane M., Patel, Shutish, Neufeld, Edward B., ...

Niemann-Pick type C (NPC) disease is an inherited lipid storage disorder that affects the viscera and central nervous system. A characteristic feature of NPC cells is the lysosomal accumulation of...

Localization of Niemann–Pick C1 protein in astrocytes: Implications for neuronal degeneration in Niemann– Pick type C disease

Patel, Shutish C., Suresh, Sundar, Kumar, Ujendra, Hu, C. Y., Cooney, Adele, Blanchette-Mackie, E. Joan, ...

Niemann–Pick type C disease (NP-C) is an inherited neurovisceral lipid storage disorder characterized by progressive neurodegeneration. Most cases of NP-C result from inactivating mutations of...

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

Gu, Jessie Z., Carstea, Eugene D., Cummings, Christiano, Morris, Jill A., Loftus, Stacie K., Zhang, Dana, ...

Niemann–Pick disease type C (NP-C) is an autosomal recessive lipidosis linked to chromosome 18q11–12, characterized by lysosomal accumulation of unesterified cholesterol and delayed induction of...

Cessation of rapid late endosomal tubulovesicular trafficking in Niemann–Pick type C1 disease

Zhang, Mei, Dwyer, Nancy K., Love, Dona C., Cooney, Adele, Comly, Marcy, Neufeld, Edward, ...

Niemann–Pick type C1 (NPC1) disease results from a defect in the NPC1 protein and is characterized by a pathological accumulation of cholesterol and glycolipids in endocytic organelles. We followed...

Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile Phenotype

Millat, Gilles, Marçais, Christophe, Rafi, Mohammad A., Yamamoto, Toshiyuki, Morris, Jill A., Pentchev, Peter G., ...

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid-storage disorder usually characterized by hepatosplenomegaly and severe progressive neurological dysfunction, resulting from...

Prenatal diagnosis of Niemann-Pick type C disease: Current strategy from an experience of 37 pregnancies at risk

Vanier, Marie T., Rodriguez-Lafrasse, Claire, Rousson, Robert, Mandon, Ginette, Boué, Joëlle, Choiset, Agnès, ...

Thirty-seven pregnancies at risk for Niemann-Pick type C disease were monitored by study of cultured amniotic fluid cells (8 cases) or chorionic villus cells (29 cases) in 23 couples over the period...