Peter G. Pentchev

Overview

Best Publications

• Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

  Eugene D. Carstea;Jill A. Morris;Katherine G. Coleman;Stacie K. Loftus

  1751
  Citations

• Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

  Stacie K. Loftus;Jill A. Morris;Eugene D. Carstea;Jessie Z. Gu

  917
  Citations

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

  Peter G. Pentchev;Marcella E. Comly;Howard S. Kruth;Marie T. Vanier

  551
  Citations

• Intracellular Trafficking of Cholesterol Monitored with a Cyclodextrin

  Edward B. Neufeld;Adele M. Cooney;Josef Pitha;Eliezar A. Dawidowicz

  536
  Citations

• The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo

  Edward B. Neufeld;Meryl Wastney;Shutish Patel;Sundar Suresh

  449
  Citations

• Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease.

  Roscoe O. Brady;Peter G. Pentchev;Andrew E. Gal;Sue R. Hibbert

  393
  Citations

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

  M T Vanier;S Duthel;C Rodriguez-Lafrasse;P Pentchev

  309
  Citations

• Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

  Marie T. Vanier;Claire Rodriguez-Lafrasse;Robert Rousson;Noureddine Gazzah

  300
  Citations

• Cerebellar degeneration in the Niemann-Pick type C mouse.

  Y. Higashi;S. Murayama;P. G. Pentchev;K. Suzuki

  294
  Citations

• Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes.

  E J Blanchette-Mackie;N K Dwyer;L M Amende;H S Kruth

  284
  Citations

• Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease.

  I. A. Auer;M. L. Schmidt;V. M. Y. Lee;B. Curry

  271
  Citations

• Neurofibrillary tangles in Niemann-Pick disease type C.

  Kipuko Suzuki;Colette C. Parker;Peter G. Pentchev;David Katz

  252
  Citations

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

  P G Pentchev;A D Boothe;H S Kruth;H Weintroub

  251
  Citations

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

  Patel Sc;Suresh S;Kumar U;Hu Cy

  244
  Citations

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

  Marie T. Vanier;David A. Wenger;Marcella E. Comly;Robert Rousson

  242
  Citations

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

  P.G. Pentchev;A.E. Gal;A.D. Booth;F. Omodeo-Sale

  237
  Citations

• 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.

  Gilles Millat;Christophe Marçais;Mohammad A. Rafi;Toshiyuki Yamamoto

  236
  Citations

• Enzyme replacement therapy in Gaucher's disease: large-scale purification of glucocerebrosidase suitable for human administration.

  F S Furbish;H E Blair;J Shiloach;P G Pentchev

  231
  Citations

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

  H S Kruth;M E Comly;J D Butler;M T Vanier

  229
  Citations

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

  Hidemichi Watari;E. Joan Blanchette-Mackie;Nancy K. Dwyer;Jane M. Glick

  225
  Citations