Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease (Q24337312)

Sphingomyelin phosphodiesterase 1

3 August 2024

main subject

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nervous system development

GOA release 2020-03-11

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GOA release 2020-03-11

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7

R J Desnick

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Edward H Schuchman

9

object named as

E H Schuchman

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author name string

K. Horinouchi

1

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3 August 2024

S. Erlich

2

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3 August 2024

D. P. Perl

3

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3 August 2024

K. Ferlinz

4

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3 August 2024

C. L. Bisgaier

5

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K. Sandhoff

6

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C. L. Stewart

8

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full work available at URL

3 August 2024

language of work or name

English

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publication date

July 1995

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http://www.nature.com/articles/ng0795-288

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https://api.crossref.org/works/10.1038/NG0795-288

http://www.nature.com/articles/ng0795-288.pdf

3 August 2024

file format

Portable Document Format

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https://api.crossref.org/works/10.1038/NG0795-288

3 August 2024

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10

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issue

3

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page(s)

288-93

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The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae

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The sphingomyelin pathway in tumor necrosis factor and interleukin-1 signaling

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Effect of Triton X-100 on the hydrolysis of sphingomyelin by sphingomyelinase of rat brain

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Niemann Pick disease: presence of the magnesium-dependent sphingomyelinase in brain of the infantile form of the disease

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Purification and characterization of neutral and acid sphingomyelinases from rat brain.

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Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)

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Molecular Cloning of the Acid Sphingomyelinase of the Mouse and the Organization and Complete Nucleotide Sequence of the Gene

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Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4

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7 January 2021

Mouse models of Niemann-Pick disease: mutation analysis and chromosomal mapping rule out the type A and B forms

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Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells

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Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin

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DNA sequencing with chain-terminating inhibitors

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Germ line transmission and expression of a corrected HPRT gene produced by gene targeting in embryonic stem cells

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Simple screening procedure to detect gene targeting events in embryonic stem cells

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An improved culture medium supports development of random-bred 1-cell mouse embryos in vitro

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Human acid sphingomyelinase from human urine

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Intestinal expression of human apolipoprotein A-IV in transgenic mice fails to influence dietary lipid absorption or feeding behavior

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7 January 2021

Decreased HDL cholesterol levels but normal lipid absorption, growth, and feeding behavior in apolipoprotein A-IV knockout mice

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7 January 2021