Literature DB >> 8446622

Linkage of Niemann-Pick disease type C to human chromosome 18.

E D Carstea1, M H Polymeropoulos, C C Parker, S D Detera-Wadleigh, R R O'Neill, M C Patterson, E Goldin, H Xiao, R E Straub, M T Vanier.   

Abstract

We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected offspring, the chromosome 18 parental contributions were identified by using allele-specific microsatellite markers. Significant linkage of NPC to an 18p genomic marker, D18S40, was indicated by a two-point lod score of 3.84. Analysis of meiotic chromosomal breakpoint patterns among the affected individuals indicated that the NPC gene is pericentromerically localized on human chromosome 18.

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 8446622      PMCID： PMC46008          DOI： 10.1073/pnas.90.5.2002

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  21 in total

1.  A cell line derived from sphingomyelinosis mouse shows alterations in intracellular cholesterol metabolism similar to those in type C Niemann-Pick disease.

Authors:  K Ohno; E Nanba; S Miyawaki; T Sakiyama; T Kitagawa; K Takeshita
Journal:  Cell Struct Funct       Date:  1992-08       Impact factor: 2.212

Review 2.  A receptor-mediated pathway for cholesterol homeostasis.

Authors:  M S Brown; J L Goldstein
Journal:  Science       Date:  1986-04-04       Impact factor: 47.728

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

Authors:  P G Pentchev; A D Boothe; H S Kruth; H Weintroub; J Stivers; R O Brady
Journal:  J Biol Chem       Date:  1984-05-10       Impact factor: 5.157

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

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

5.  A mouse model for Niemann-Pick disease. Influence of genetic background on disease expression in spm/spm mice.

Authors:  S Miyawaki; H Yoshida; S Mitsuoka; H Enomoto; S Ikehara
Journal:  J Hered       Date:  1986 Nov-Dec       Impact factor: 2.645

6.  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

7.  The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease.

Authors:  P G Pentchev; M E Comly; H S Kruth; S Patel; M Proestel; H Weintroub
Journal:  J Biol Chem       Date:  1986-02-25       Impact factor: 5.157

8.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

9.  Impaired cholesterol esterification in primary brain cultures of the lysosomal cholesterol storage disorder (LCSD) mouse mutant.

Authors:  S C Patel; S Suresh; H Weintroub; R O Brady; P G Pentchev
Journal:  Biochem Biophys Res Commun       Date:  1987-02-27       Impact factor: 3.575

10.  Sphingomyelinosis, a new mutation in the mouse: a model of Niemann-Pick disease in humans.

Authors:  S Miyawaki; S Mitsuoka; T Sakiyama; T Kitagawa
Journal:  J Hered       Date:  1982 Jul-Aug       Impact factor: 2.645
View more
  28 in total

1.  Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease.

Authors:  Stefania Zampieri; Ezio Bianchi; Carlo Cantile; Roberta Saleri; Bruno Bembi; Andrea Dardis
Journal:  PLoS One       Date:  2014-11-14       Impact factor: 3.240

2.  Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation.

Authors:  J Z Gu; E D Carstea; C Cummings; J A Morris; S K Loftus; D Zhang; K G Coleman; A M Cooney; M E Comly; L Fandino; C Roff; D A Tagle; W J Pavan; P G Pentchev; M A Rosenfeld
Journal:  Proc Natl Acad Sci U S A       Date:  1997-07-08       Impact factor: 11.205

3.  Metabolic abnormalities in feline Niemann-Pick type C heterozygotes.

Authors:  D E Brown; M A Thrall; S U Walkley; S Wurzelmann; D A Wenger; R W Allison; C A Just
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups alpha and beta stimulates LDL-derived cholesterol esterification.

Authors:  S J Steinberg; D Mondal; A H Fensom
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

5.  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

6.  The usefulness of bone marrow aspiration in the diagnosis of Niemann-Pick disease type C in infantile liver disease.

Authors:  A F Rodrigues; R G Gray; M A Preece; R Brown; F G Hill; U Baumann; P J McKiernan
Journal:  Arch Dis Child       Date:  2006-05-31       Impact factor: 3.791

7.  A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.

Authors:  Natascha Bergamin; Andrea Dardis; Antonio Beltrami; Daniela Cesselli; Silvia Rigo; Stefania Zampieri; Rossana Domenis; Bruno Bembi; Carlo Alberto Beltrami
Journal:  Orphanet J Rare Dis       Date:  2013-02-21       Impact factor: 4.123

8.  Saccharomyces cerevisiae Npc2p is a functionally conserved homologue of the human Niemann-Pick disease type C 2 protein, hNPC2.

Authors:  Adam C Berger; Thomas H Vanderford; Kim M Gernert; J Wylie Nichols; Victor Faundez; Anita H Corbett
Journal:  Eukaryot Cell       Date:  2005-11

9.  Feline Niemann-Pick disease type C.

Authors:  D E Brown; M A Thrall; S U Walkley; D A Wenger; T W Mitchell; M O Smith; K L Royals; P A March; R W Allison
Journal:  Am J Pathol       Date:  1994-06       Impact factor: 4.307

10.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.