Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease (Q35643046)

9 August 2017

Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease (English)

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9 August 2017

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K Ferlinz

1

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9 August 2017

R Hurwitz

2

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9 August 2017

M Weiler

3

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9 August 2017

K Suzuki

4

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9 August 2017

K Sandhoff

5

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9 August 2017

M T Vanier

6

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9 August 2017

language of work or name

English

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publication date

1 June 1995

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American Journal of Human Genetics

9 August 2017

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9 August 2017

56

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9 August 2017

6

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9 August 2017

1343-1349

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Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

Occurrence of two molecular forms of human acid sphingomyelinase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

Identification of the components necessary for adenovirus translational control and their utilization in cDNA expression vectors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

Acid sphingomyelinase from human urine: purification and characterization.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

Molecular basis of acid sphingomyelinase dificiency in a patient with Niemann-Pick disease type A

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

DNA sequencing with chain-terminating inhibitors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

The cerebral defect in Tay-Sachs disease and Niemann-Pick disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801117

The tricyclic antidepressant desipramine causes proteolytic degradation of lysosomal sphingomyelinase in human fibroblasts

25 September 2018

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12 December 2020

Processing of human acid sphingomyelinase in normal and I-cell fibroblasts

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12 December 2020

Tricyclic antidepressants induce sphingomyelinase deficiency in fibroblast and neuroblastoma cell cultures

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12 December 2020

Biochemical studies in Niemann-Pick disease. III. In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease

1 reference

12 December 2020

Presence of immunoreactive material in Niemann-Pick type A placenta using anti-sphingomyelinase rabbit gammaglobulins

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12 December 2020

Identifiers

PMCID

1801117

1 reference

9 August 2017

1 reference