(Q45887500)

17 December 2017

title

Identification of novel biomarkers for Niemann-Pick disease using gene expression analysis of acid sphingomyelinase knockout mice (English)

1 reference

17 December 2017

0 references

1 reference

1 reference

3

Edward H Schuchman

1 reference

17 December 2017

author name string

Rajwinder Dhami

series ordinal

1

1 reference

17 December 2017

Marco A Passini

series ordinal

2

1 reference

17 December 2017

publication date

6 October 2005

1 reference

17 December 2017

published in

Molecular Therapy

1 reference

17 December 2017

volume

13

1 reference

17 December 2017

issue

3

1 reference

17 December 2017

page(s)

556-564

1 reference

17 December 2017

Niemann-Pick disease (variation in the sphingomyelinase deficient group). Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Enzyme therapy of gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

A model of neuronopathic Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

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.YMTHE.2005.08.020

Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Homology modeling of glycosyl hydrolase family 18 enzymes and proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Identification of a novel iron-responsive element in murine and human erythroid delta-aminolevulinic acid synthase mRNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Iron loading and erythrophagocytosis increase ferroportin 1 (FPN1) expression in J774 macrophages.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

The C10/CCL6 chemokine and CCR1 play critical roles in the pathogenesis of IL-13-induced inflammation and remodeling.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Cloning and differential tissue-specific expression of three mouse beta chemokine receptor-like genes, including the gene for a functional macrophage inflammatory protein-1 alpha receptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Matrix metalloproteinases, but not cathepsins B, H, and L or their inhibitors in peripheral blood of patients with rheumatoid arthritis are potentially useful markers of disease activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Human serum amyloid A (SAA) protein: a prominent acute-phase reactant for clinical practice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Differential profiles of genes expressed in neonatal brain of 129X1/SvJ and C57BL/6J mice: A database to aid in analyzing DNA microarrays using nonisogenic gene-targeted mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Scaleable chromatographic purification process for recombinant adeno-associated virus (rAAV).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Highly purified recombinant adeno-associated virus vectors are biologically active and free of detectable helper and wild-type viruses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

Endothelial markers and homocysteine in patients with classic Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2005.08.020

10.1016/J.YMTHE.2005.08.020

7 January 2021

Identifiers

DOI

1 reference

17 December 2017

1 reference

17 December 2017