Linkage of Niemann-Pick disease type C to human chromosome 18 (Q24563364)

2

0 references

C C Parker

3

0 references

S D Detera-Wadleigh

4

0 references

R R O'Neill

5

0 references

M C Patterson

6

0 references

E Goldin

7

0 references

H Xiao

8

0 references

R E Straub

9

0 references

M T Vanier

Proceedings of the National Academy of Sciences of the United States of America

10

0 references

language of work or name

English

0 references

publication date

1 March 1993

0 references

published in

0 references

volume

90

0 references

issue

5

0 references

page(s)

2002-4

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46008

A receptor-mediated pathway for cholesterol homeostasis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46008

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46008

Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46008

The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46008

Niemann-Pick disease types C and D.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46008

Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46008

Clinical spectrum of Niemann-Pick disease type C.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46008

Type C Niemann-Pick disease: documentation of abnormal LDL processing in lymphocytes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46008

Chromosomal assignment of 46 brain cDNAs

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46008

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46008

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46008

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

28 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts

1 reference

12 December 2020

A molecular genetic linkage map of mouse chromosome 18, includingspm, Grl-1, Fim-2/c-fms, andMbp

1 reference

12 December 2020

A molecular genetic linkage map of mouse chromosome 18 reveals extensive linkage conservation with human chromosomes 5 and 18

1 reference

12 December 2020

Time course of hepatic lipids accumulation in a strain of mice with an inherited deficiency of sphingomyelinase

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.90.5.2002

1 reference

ADS bibcode

1993PNAS...90.2002C

0 references

1 reference

1 reference

PubMed publication ID

8446622

1 reference