Literature DB >> 11182931

Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.

T Yamamoto, H Ninomiya, M Matsumoto, Y Ohta, E Nanba, Y Tsutsumi, K Yamakawa, G Millat, M T Vanier, P G Pentchev, K Ohno.   

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Year:  2000        PMID： 11182931      PMCID： PMC1734680          DOI： 10.1136/jmg.37.9.707

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  19 in total

1.  Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Authors:  G Millat; C Marçais; C Tomasetto; K Chikh; A H Fensom; K Harzer; D A Wenger; K Ohno; M T Vanier
Journal:  Am J Hum Genet       Date:  2001-05-01       Impact factor: 11.025

2.  Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

Authors:  G Millat; K Chikh; S Naureckiene; D E Sleat; A H Fensom; K Higaki; M Elleder; P Lobel; M T Vanier
Journal:  Am J Hum Genet       Date:  2001-09-20       Impact factor: 11.025

3.  Accumulation of cholera toxin and GM1 ganglioside in the early endosome of Niemann-Pick C1-deficient cells.

Authors:  Y Sugimoto; H Ninomiya; Y Ohsaki; K Higaki; J P Davies; Y A Ioannou; K Ohno
Journal:  Proc Natl Acad Sci U S A       Date:  2001-10-23       Impact factor: 11.205

4.  Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

Authors:  X Sun; D L Marks; W D Park; C L Wheatley; V Puri; J F O'Brien; D L Kraft; P A Lundquist; M C Patterson; R E Pagano; K Snow
Journal:  Am J Hum Genet       Date:  2001-05-09       Impact factor: 11.025

5.  Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C.

Authors:  M Walterfang; M Fietz; L Abel; E Bowman; R Mocellin; D Velakoulis
Journal:  J Inherit Metab Dis       Date:  2009-07-17       Impact factor: 4.982

Review 6.  The pathogenesis of Niemann-Pick type C disease: a role for autophagy?

Authors:  Chris D Pacheco; Andrew P Lieberman
Journal:  Expert Rev Mol Med       Date:  2008-09-10       Impact factor: 5.600

Review 7.  Lysosome and endoplasmic reticulum quality control pathways in Niemann-Pick type C disease.

Authors:  Mark L Schultz; Kelsey L Krus; Andrew P Lieberman
Journal:  Brain Res       Date:  2016-03-26       Impact factor: 3.252

8.  Endoplasmic reticulum-associated degradation of Niemann-Pick C1: evidence for the role of heat shock proteins and identification of lysine residues that accept ubiquitin.

Authors:  Naoe Nakasone; Yuko S Nakamura; Katsumi Higaki; Nao Oumi; Kousaku Ohno; Haruaki Ninomiya
Journal:  J Biol Chem       Date:  2014-06-02       Impact factor: 5.157

9.  Reduced sensitivity of Niemann-Pick C1-deficient cells to theta-toxin (perfringolysin O): sequestration of toxin to raft-enriched membrane vesicles.

Authors:  Yuki Ohsaki; Yuko Sugimoto; Michitaka Suzuki; Toshiyuki Kaidoh; Yukiko Shimada; Yoshiko Ohno-Iwashita; Joanna P Davies; Yiannis A Ioannou; Kousaku Ohno; Haruaki Ninomiya
Journal:  Histochem Cell Biol       Date:  2004-04-07       Impact factor: 4.304

10.  The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

Authors:  William S Garver; David Jelinek; F John Meaney; James Flynn; Kathleen M Pettit; Glen Shepherd; Randall A Heidenreich; Cate M Walsh Vockley; Graciela Castro; Gordon A Francis
Journal:  J Lipid Res       Date:  2009-09-09       Impact factor: 5.922
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