(Q36882500)

16 August 2017

1 reference

title

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease (English)

1 reference

16 August 2017

Schuchman EH

1

1 reference

16 August 2017

publication date

12 July 2007

1 reference

Journal of Inherited Metabolic Disease

16 August 2017

published in

1 reference

16 August 2017

volume

30

1 reference

16 August 2017

issue

5

1 reference

16 August 2017

page(s)

654-663

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-007-0632-9

16 August 2017

exact match

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Zn2+-stimulated sphingomyelinase is secreted by many cell types and is a product of the acid sphingomyelinase gene

1 reference

12 December 2020

Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy

1 reference

12 December 2020

D609 blocks cell survival and induces apoptosis in neural stem cells.

1 reference

12 December 2020

Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Activation of human acid sphingomyelinase through modification or deletion of C-terminal cysteine

1 reference

12 December 2020

Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick Type B disease with whole-lung lavage

1 reference

12 December 2020

Lipid abnormalities in children with types A and B Niemann Pick disease

1 reference

12 December 2020

Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Niemann–Pick Disease versus acid sphingomyelinase deficiency

1 reference

12 December 2020

AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease

1 reference

12 December 2020

Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes

1 reference

12 December 2020

A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity

1 reference

12 December 2020

Raft ceramide in molecular medicine

1 reference

12 December 2020

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

1 reference

12 December 2020

Treatment of patients with Niemann-Pick type is using repeated amniotic epithelial cells implantation: correction of aggregation and coagulation abnormalities

1 reference

12 December 2020

Lysosomal enzyme delivery by ICAM-1-targeted nanocarriers bypassing glycosylation- and clathrin-dependent endocytosis

1 reference

12 December 2020

Ceramide, membrane rafts and infections

1 reference

12 December 2020

A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region

1 reference

12 December 2020

Purification and characterization of recombinant, human acid ceramidase. Catalytic reactions and interactions with acid sphingomyelinase

1 reference

12 December 2020

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

1 reference

12 December 2020

Prevalence of lysosomal storage diseases in Portugal

1 reference

12 December 2020

Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase-deficient mice

1 reference

12 December 2020

Membrane lipid homeostasis.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The frequency of lysosomal storage diseases in The Netherlands.

1 reference

12 December 2020

Niemann-Pick disease in adult: report of a case surgically treated

1 reference

12 December 2020

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

1 reference

12 December 2020

Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis.

1 reference

12 December 2020

Gene expression patterns that characterize advanced stage serous ovarian cancers

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Oocyte apoptosis is suppressed by disruption of the acid sphingomyelinase gene or by sphingosine-1-phosphate therapy

1 reference

12 December 2020

Prevalence of lysosomal storage disorders

1 reference

12 December 2020

The complex life of simple sphingolipids

1 reference

12 December 2020

An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1)

1 reference

12 December 2020

Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease)

1 reference

12 December 2020

Regulation of ceramide production and apoptosis

1 reference

12 December 2020

Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease

1 reference

12 December 2020

Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and c

1 reference

12 December 2020

Acid sphingomyelinase-derived ceramide signaling in apoptosis

1 reference

12 December 2020

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Phosphatidylinositol-3,5-Bisphosphate Is a Potent and Selective Inhibitor of Acid Sphingomyelinase

1 reference

12 December 2020

Infantile Niemann-Pick disease. A chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin.

1 reference

12 December 2020

Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

1 reference

12 December 2020

Replacement therapy for inherited enzyme deficiency: Liver orthotopic transplantation in Niemann-Pick disease type A

1 reference

12 December 2020

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

1 reference

12 December 2020

Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease

1 reference

12 December 2020

The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression

1 reference

12 December 2020

Radiation and ceramide-induced apoptosis

1 reference

12 December 2020

Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol

1 reference

12 December 2020

Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon

1 reference

12 December 2020

Alterations in blood-brain barrier ICAM-1 expression and brain microglial activation after lambda-carrageenan-induced inflammatory pain

1 reference

12 December 2020

Lipid rafts in health and disease

1 reference

12 December 2020

A novel endocytic pathway induced by clustering endothelial ICAM-1 or PECAM-1.

1 reference

12 December 2020

Successful therapy of Niemann-Pick disease by implantation of human amniotic membrane

1 reference

12 December 2020

Substrate reduction therapy for lysosomal storage diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Transcriptional gene expression profiles of colorectal adenoma, adenocarcinoma, and normal tissue examined by oligonucleotide arrays.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing

1 reference

12 December 2020

10.1007/S10545-007-0632-9

Identifiers

DOI

1 reference

16 August 2017

1 reference