Associated Papers
Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann-Pick type C cells and mice.
Moreau D et al.
Embo Reports, 2019
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
ABCA1-dependent sterol release: sterol molecule specificity and potential membrane domain for HDL biogenesis.
Yamauchi Y et al.
Journal of Lipid Research, 2016
Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases.
Pchelina SN et al.
Neuroscience Letters, 2014
[Clinical and genetic special features of Niemann-Pick disease, type C].
Zakharova EIu et al.
Vestnik Rossiiskoi Akademii Meditsinskikh Nauk, 2012
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Verot L et al.
Clinical Genetics, 2007
Protein transduction of Rab9 in Niemann-Pick C cells reduces cholesterol storage.
Narita K et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2005
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
Chikh K et al.
Human Mutation, 2005
Structure and function of the NPC2 protein.
Vanier MT et al.
Biochimica Et Biophysica Acta, 2004
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Park WD et al.
Human Mutation, 2003
Select a paper to view details