Associated Papers
Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant.
Kara C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Novel Mutation in the Feline NPC2 Gene in Cats with Niemann-Pick Disease.
Rakib TM et al.
Animals : an Open Access Journal From Mdpi, 2023
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
Treatment of Niemann--pick type C disease by histone deacetylase inhibitors.
Helquist P et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2013
Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts.
Pipalia NH et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
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
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
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.
Klünemann HH et al.
Annals of Neurology, 2002
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