Literature DB >> 9634529

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

W L Greer1, D C Riddell, T L Gillan, G S Girouard, S M Sparrow, D M Byers, M J Dobson, P E Neumann.   

Abstract

Niemann-Pick type D (NPD) disease is a progressive neurodegenerative disorder characterized by the accumulation of tissue cholesterol and sphingomyelin. This disorder is relatively common in southwestern Nova Scotia, because of a founder effect. Our previous studies, using classic linkage analysis of this large extended kindred, defined the critical gene region to a 13-cM chromosome segment between D18S40 and D18S66. A recently isolated gene from this region, NPC1, is mutated in the majority of patients with Niemann-Pick type C disease. We have identified a point mutation within this gene (G3097-->T; Gly992-->Trp) that shows complete linkage disequilibrium with NPD, confirming that NPD is an allelic variant of NPC1.

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Year:  1998        PMID： 9634529      PMCID： PMC1377252          DOI： 10.1086/301931

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  12 in total

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

Authors:  S K Loftus; J A Morris; E D Carstea; J Z Gu; C Cummings; A Brown; J Ellison; K Ohno; M A Rosenfeld; D A Tagle; P G Pentchev; W J Pavan
Journal:  Science       Date:  1997-07-11       Impact factor: 47.728

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

Authors:  E D Carstea; J A Morris; K G Coleman; S K Loftus; D Zhang; C Cummings; J Gu; M A Rosenfeld; W J Pavan; D B Krizman; J Nagle; M H Polymeropoulos; S L Sturley; Y A Ioannou; M E Higgins; M Comly; A Cooney; A Brown; C R Kaneski; E J Blanchette-Mackie; N K Dwyer; E B Neufeld; T Y Chang; L Liscum; J F Strauss; K Ohno; M Zeigler; R Carmi; J Sokol; D Markie; R R O'Neill; O P van Diggelen; M Elleder; M C Patterson; R O Brady; M T Vanier; P G Pentchev; D A Tagle
Journal:  Science       Date:  1997-07-11       Impact factor: 47.728

3.  Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.

Authors:  S J Steinberg; C P Ward; A H Fensom
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

4.  Molecular diagnosis of the Philadelphia chromosome in chronic myelogenous and acute lymphoblastic leukemias by PCR.

Authors:  J Maurer; H Kinzel; T Nentwig; E Thiel
Journal:  Dis Markers       Date:  1990 Jul-Aug       Impact factor: 3.434

5.  Defective activity of acyl-CoA:cholesterol O-acyltransferase in Niemann-Pick type C and type D fibroblasts.

Authors:  D M Byers; S R Rastogi; H W Cook; F B Palmer; M W Spence
Journal:  Biochem J       Date:  1989-09-15       Impact factor: 3.857

6.  Regulation of low density lipoprotein receptor and 3-hydroxy-3-methyl-glutaryl-CoA reductase activities are differentially affected in Niemann-Pick type C and type D fibroblasts.

Authors:  H S Sidhu; S A Rastogi; D M Byers; D L Guernsey; H W Cook; F B Palmer; M W Spence
Journal:  Biochem Cell Biol       Date:  1993 Sep-Oct       Impact factor: 3.626

7.  Type C Niemann-Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts.

Authors:  P G Pentchev; H S Kruth; M E Comly; J D Butler; M T Vanier; D A Wenger; S Patel
Journal:  J Biol Chem       Date:  1986-12-15       Impact factor: 5.157

8.  Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C.

Authors:  W L Greer; D C Riddell; D M Byers; J P Welch; G S Girouard; S M Sparrow; T L Gillan; P E Neumann
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

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

Authors:  P G Pentchev; M E Comly; H S Kruth; M T Vanier; D A Wenger; S Patel; R O Brady
Journal:  Proc Natl Acad Sci U S A       Date:  1985-12       Impact factor: 11.205

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

Authors:  M T Vanier; S Duthel; C Rodriguez-Lafrasse; P Pentchev; E D Carstea
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025
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  23 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

Review 2.  Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature.

Authors:  M T Vanier
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

Review 3.  An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.

Authors:  Fady Hannah-Shmouni; Constantine A Stratakis
Journal:  Rev Endocr Metab Disord       Date:  2018-03       Impact factor: 6.514

4.  Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.

Authors:  Stefania Zampieri; Bruno Bembi; Natalia Rosso; Mirella Filocamo; Andrea Dardis
Journal:  JIMD Rep       Date:  2011-09-06

Review 5.  Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia.

Authors:  Robert P Erickson
Journal:  J Appl Genet       Date:  2013-01-05       Impact factor: 3.240

Review 6.  Emptying the stores: lysosomal diseases and therapeutic strategies.

Authors:  Frances M Platt
Journal:  Nat Rev Drug Discov       Date:  2017-11-17       Impact factor: 84.694

7.  Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

Authors:  Celine V M Cluzeau; Dawn E Watkins-Chow; Rao Fu; Bhavesh Borate; Nicole Yanjanin; Michelle K Dail; Cristin D Davidson; Steven U Walkley; Daniel S Ory; Christopher A Wassif; William J Pavan; Forbes D Porter
Journal:  Hum Mol Genet       Date:  2012-05-22       Impact factor: 6.150

8.  The Spectrum of Niemann-Pick Type C Disease in Greece.

Authors:  Irene Mavridou; Evangelia Dimitriou; Marie T Vanier; Lluisa Vilageliu; Daniel Grinberg; Philippe Latour; Athina Xaidara; Lilia Lycopoulou; Sevasti Bostantjopoulou; Dimitrios Zafeiriou; Helen Michelakakis
Journal:  JIMD Rep       Date:  2017-01-20

9.  New variants in Spanish Niemann-Pick type c disease patients.

Authors:  Laura López de Frutos; Jorge J Cebolla; Luis Aldámiz-Echevarría; Ángela de la Vega; Sinziana Stanescu; Carlos Lahoz; Pilar Irún; Pilar Giraldo
Journal:  Mol Biol Rep       Date:  2020-02-14       Impact factor: 2.316

Review 10.  Niemann-Pick disease type C.

Authors:  Marie T Vanier
Journal:  Orphanet J Rare Dis       Date:  2010-06-03       Impact factor: 4.123
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