(Q28117276)

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models (English)

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

Sphingomyelin phosphodiesterase 1

14 January 2020

main subject

1 reference

acid sphingomyelin phosphodiesterase activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

5

Edward H Schuchman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

author name string

Iwan Jones

series ordinal

1

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Xingxuan He

series ordinal

2

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Fourogh Katouzian

series ordinal

3

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

publication date

23 September 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

14 January 2020

published in

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

volume

95

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

issue

3

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

page(s)

152-162

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

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

14 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Mechanism of Fe(III)-Zn(II) purple acid phosphatase based on crystal structures

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

CD-Search: protein domain annotations on the fly

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Competition between calnexin and BiP in the endoplasmic reticulum can lead to the folding or degradation of human thyroperoxidase.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

A lipid analogue that inhibits sphingomyelin hydrolysis and synthesis, increases ceramide, and leads to cell death

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Functional characterization of the postulated intramolecular sphingolipid activator protein domain of human acid sphingomyelinase.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Lysenin, a unique sphingomyelin‐binding protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Human acid sphingomyelinase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

A model of the acid sphingomyelinase phosphoesterase domain based on its remote structural homolog purple acid phosphatase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Improved performance in protein secondary structure prediction by inhomogeneous score combination.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Expression of recombinant human acid sphingomyelinase in insect Sf21 cells: purification, processing and enzymatic characterization

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Bone marrow transplantation for Niemann‐Pick Type IA disease

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

SOPMA: significant improvements in protein secondary structure prediction by consensus prediction from multiple alignments.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2621017

Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease

27 November 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.08.004

Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.08.004

Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.08.004

Comparative protein structure modeling using Modeller

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.08.004

10.1016/J.YMGME.2008.08.004

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

release_lye62uqotrbijoeocsfgztyuma

14 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/lye62uqotrbijoeocsfgztyuma

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18815062%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

2 references

4 January 2017