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

nervous system development

GOA release 2020-03-11

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GOA release 2020-03-11

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R J Desnick

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Edward H Schuchman

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object named as

E H Schuchman

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author name string

K Horinouchi

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S Erlich

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D P Perl

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K Ferlinz

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C L Bisgaier

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K Sandhoff

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C L Stewart

https://scigraph.springernature.com/pub.10.1038/ng0795-288

8

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language of work or name

English

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publication date

July 1995

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published in

Nature Genetics

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volume

10

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page(s)

288-93

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issue

3

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exact match

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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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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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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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