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A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14

artículo científico publicado en 1991

A fluorescence-based high-performance liquid chromatographic assay to determine acid ceramidase activity

artículo científico publicado en 1999

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

artículo científico publicado en 2003

A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism

artículo científico publicado en 2002

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

artículo científico publicado en 2005

A new continuous, monodimensional electrophoretic system for the separation and quantitation of individual glycosaminoglycans ⬇️

artículo científico publicado el 1 de noviembre de 1981

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

artículo científico publicado en 2005

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

artículo científico publicado en 2005

AB053. Role of inflammation in the mucopolysaccharidoses & review of recent therapies.

artículo científico publicado en 2015

Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.

artículo científico publicado en 2016

Acid Sphingomyelinase Deficiency

artículo científico publicado en 2015

Acid Sphingomyelinase Deficiency Attenuates Bleomycin-Induced Lung Inflammation and Fibrosis in Mice ⬇️

artículo científico publicado el 29 de octubre de 2010

Acid Sphingomyelinase Mediates Oxidized-LDL Induced Apoptosis in Macrophage via Endoplasmic Reticulum Stress

artículo científico publicado en 2016

Acid ceramidase and human disease

artículo científico publicado en 2006

Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy

artículo científico publicado en 2016

Acid ceramidase improves the quality of oocytes and embryos and the outcome of in vitro fertilization

artículo científico publicado en 2009

Acid ceramidase is a novel factor required for early embryo survival.

artículo científico publicado en 2007

Acid ceramidase is upregulated in AML and represents a novel therapeutic target

artículo científico publicado en 2016

Acid ceramidase maintains the chondrogenic phenotype of expanded primary chondrocytes and improves the chondrogenic differentiation of bone marrow-derived mesenchymal stem cells

artículo científico publicado en 2013

Acid ceramidase treatment enhances the outcome of autologous chondrocyte implantation in a rat osteochondral defect model.

artículo científico publicado en 2015

Acid sphingomyelinase activity triggers microparticle release from glial cells

artículo científico publicado en 2009

Acid sphingomyelinase activity triggers microparticle release from glial cells

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

artículo científico publicado el 1 de julio de 1995

Acid sphingomyelinase modulates the autophagic process by controlling lysosomal biogenesis in Alzheimer's disease

artículo científico publicado en 2014

Acid sphingomyelinase overexpression enhances the antineoplastic effects of irradiation in vitro and in vivo.

artículo científico publicado en 2008

Acid sphingomyelinase promotes lipoprotein retention within early atheromata and accelerates lesion progression

artículo científico publicado en 2008

Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease

artículo científico publicado en 2009

Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.

artículo científico publicado en 2007

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

artículo científico publicado en 1996

Acid sphingomyelinase: relation of 93lysine residue on the ratio of intracellular to secreted enzyme activity.

artículo científico publicado en 2005

Acidic sphingomyelinase is involved in Fas-mediated cell death of the hepatocytes but not lymphocytes. Evidence for acidc sphingomyelinase dependent and independent pathways

Activity-Based Imaging of Acid Ceramidase in Living Cells

scientific article published on 02 May 2019

Adeno-associated viral vector serotype 9-based gene therapy for Niemann-Pick disease type A

artículo científico publicado en 2019

Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann-Pick disease type A.

artículo científico publicado en 2009

Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease

artículo científico publicado en 2002

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

artículo científico publicado en 1991

An enzymatic assay for quantifying sphingomyelin in tissues and plasma from humans and mice with Niemann-Pick disease

artículo científico publicado en 2001

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

artículo científico publicado en 2001

Animal analogues of human inherited metabolic diseases: molecular pathology and therapeutic studies

artículo científico publicado en 1982

Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI

artículo científico publicado en 2011

Apolipoprotein D-mediated preservation of lysosomal function promotes cell survival and delays motor impairment in Niemann-Pick type A disease

artículo científico publicado en 2020

Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses

artículo científico publicado en 2001

Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy

artículo científico publicado en 1996

Assignment of the feline alpha-L-iduronidase gene to chromosome D4.

artículo científico publicado en 1989

Autologous transplantation of retrovirally transduced bone marrow or neonatal blood cells into cats can lead to long-term engraftment in the absence of myeloablation

artículo científico publicado en 1999

Autoproteolytic cleavage and activation of human acid ceramidase

artículo científico publicado en 2008

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

artículo científico publicado el 15 de abril de 1998

Bone marrow transplantation for feline mucopolysaccharidosis I.

artículo científico publicado en 2007

Bone marrow transplantation in acid sphingomyelinase-deficient mice: engraftment and cell migration into the brain as a function of radiation, age, and phenotype.

artículo científico publicado en 1997

Bone marrow transplantation in newborn rats with mucopolysaccharidosis type VI: biochemical, pathological, and clinical findings

scientific article published on 01 May 1997

Bone marrow-derived mesenchymal stem cells prevent the loss of Niemann-Pick type C mouse Purkinje neurons by correcting sphingolipid metabolism and increasing sphingosine-1-phosphate

artículo científico publicado en 2010

Bone marrow-derived mesenchymal stem cells promote neuronal networks with functional synaptic transmission after transplantation into mice with neurodegeneration

artículo científico publicado en 2007

Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice ⬇️

artículo científico publicado el 7 de enero de 2011

CD40 Enhances Sphingolipids in Orbital Fibroblasts: Potential Role of Sphingosine-1-Phosphate in Inflammatory T-Cell Migration in Graves' Orbitopathy

scientific article published on 01 November 2018

Ceramide and Ischemia/Reperfusion Injury

artículo científico publicado en 2018

Ceramide is upregulated and associated with mortality in patients with chronic heart failure

artículo científico publicado en 2014

Ceramide mediates inhibition of the AKT/eNOS signaling pathway by palmitate in human vascular endothelial cells

artículo científico publicado en 2009

Ceramides are necessary and sufficient for diet-induced impairment of thermogenic adipocytes

artículo científico publicado en 2020

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

scientific journal article

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

artículo científico publicado en 1999

Characterization of the Subventricular-Thalamo-Cortical Circuit in the NP-C Mouse Brain, and New Insights Regarding Treatment

artículo científico publicado en 2019

Characterization of the defective beta-glucuronidase activity in canine mucopolysaccharidosis type VII

artículo científico publicado en 1989

Combination brain and systemic injections of AAV provide maximal functional and survival benefits in the Niemann-Pick mouse

artículo científico publicado en 2007

Combined Effects of Hematopoietic Progenitor Cell Mobilization from Bone Marrow by Granulocyte Colony Stimulating Factor and AMD3100 and Chemotaxis into the Brain Using Stromal Cell‐Derived Factor‐1α in an Alzheimer's Disease Mouse Model ⬇️

artículo científico publicado el 1 de julio de 2011

Comparative binding, endocytosis, and biodistribution of antibodies and antibody-coated carriers for targeted delivery of lysosomal enzymes to ICAM-1 versus transferrin receptor

artículo científico publicado en 2012

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

artículo científico publicado en 2017

Construction of Conditional Acid Ceramidase Knockout Mice andin vivoEffects on Oocyte Development and Fertility ⬇️

artículo científico publicado el 1 de enero de 2012

Control of CD1d-restricted antigen presentation and inflammation by sphingomyelin

scientific article published on 21 October 2019

Control of endothelial targeting and intracellular delivery of therapeutic enzymes by modulating the size and shape of ICAM-1-targeted carriers

artículo científico publicado en 2008

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

artículo científico publicado en 2000

Delivery of Acid Sphingomyelinase in Normal and Niemann-Pick Disease Mice Using Intercellular Adhesion Molecule-1-Targeted Polymer Nanocarriers

artículo científico publicado en 2008

Deregulation of sphingolipid metabolism in Alzheimer's disease

artículo científico publicado en 2008

Dexamethasone-Mediated Up-Regulation of the Mannose Receptor Improves the Delivery of Recombinant Glucocerebrosidase to Gaucher Macrophages ⬇️

artículo científico publicado el 10 de noviembre de 2003

Dose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis type VI rats and comparison to oral treatment

artículo científico publicado en 2014

Elevation of ceramide and activation of secretory acid sphingomyelinase in patients with acute coronary syndromes

artículo científico publicado en 2014

Enhanced Delivery and Effects of Acid Sphingomyelinase by ICAM-1-Targeted Nanocarriers in Type B Niemann-Pick Disease Mice

artículo científico publicado en 2017

Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association

scientific article published on February 1982

Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges ⬇️

artículo científico publicado el 1 de enero de 2012

Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

artículo científico publicado en 2002

Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice

artículo científico publicado en 2017

Enzyme replacement therapy in feline mucopolysaccharidosis I.

artículo científico publicado en 2001

Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.

artículo científico publicado en 2015

Ex vivo gene therapy using bone marrow-derived cells: combined effects of intracerebral and intravenous transplantation in a mouse model of Niemann-Pick disease

artículo científico publicado en 2003

Exocytosis of acid sphingomyelinase by wounded cells promotes endocytosis and plasma membrane repair

artículo científico publicado en 2010

Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patients

artículo científico publicado en 2016

Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1

artículo científico publicado el 1 de octubre de 1992

Fluorescence-Based Selection of Retrovirally Transduced Cells in the Absence of a Marker Gene: Direct Selection of Transduced Type B Niemann-Pick Disease Cells and Evidence for Bystander Correction ⬇️

artículo científico publicado el 1 de agosto de 1995

Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells based on acid sphingomyelinase expression

artículo científico publicado en 2000

Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer procedures

artículo científico publicado en 1999

Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis

artículo científico publicado en 1997

Gene therapy for genetic diseases

article

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

artículo científico publicado en 2005

Growth Plate Pathology in the Mucopolysaccharidosis Type VI Rat Model-An Experimental and Computational Approach

artículo científico publicado en 2020

Growth restriction in children with type B Niemann-Pick disease

artículo científico publicado en 2003

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

artículo científico publicado en 2000

Human acid ceramidase: processing, glycosylation, and lysosomal targeting

artículo científico publicado en 2001

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

artículo científico publicado el 5 de mayo de 1991

Human alpha-L-iduronidase. I. Purification and properties of the high uptake (higher molecular weight) and the low uptake (processed) forms

artículo científico publicado en 1984

Human alpha-L-iduronidase. II. Comparative biochemical and immunologic properties of the purified low and high uptake forms

artículo científico publicado en 1984

Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.

artículo científico publicado en 1990

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients

artículo científico publicado en 2009

Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease

artículo científico publicado en 2010

Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats

artículo científico publicado en 1999

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

artículo científico publicado el 15 de octubre de 1992

Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease

artículo científico publicado en 1995

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

artículo científico publicado en 1992

Identification of Cystatin SA as a Novel Inhibitor of Acid Ceramidase ⬇️

artículo científico publicado el 16 de agosto de 2011

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

artículo científico publicado en 1993

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

artículo científico publicado en 1992

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

artículo científico publicado en 2005

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

artículo científico publicado en 2006

Improvement in lipid and protein trafficking in Niemann-Pick C1 cells by correction of a secondary enzyme defect

artículo científico publicado en 2010

In vivo performance of polymer nanocarriers dually-targeted to epitopes of the same or different receptors

artículo científico publicado en 2013

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

artículo científico publicado en 2000

Inhibition of GM3 synthase attenuates neuropathology of Niemann-Pick disease Type C. by affecting sphingolipid metabolism

artículo científico publicado en 2014

Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling

scientific article published on 05 October 2020

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

artículo científico publicado en 2002

Interfacial regulation of acid ceramidase activity. Stimulation of ceramide degradation by lysosomal lipids and sphingolipid activator proteins

artículo científico publicado en 2000

Intracerebral transplantation of bone marrow-derived mesenchymal stem cells reduces amyloid-beta deposition and rescues memory deficits in Alzheimer's disease mice by modulation of immune responses

artículo científico publicado en 2010

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

artículo científico publicado en 2002

Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease

artículo científico publicado en 2008

Intraparenchymal injections of acid sphingomyelinase results in regional correction of lysosomal storage pathology in the Niemann-Pick A mouse

artículo científico publicado en 2007

Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses

artículo científico publicado en 2009

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

artículo científico publicado en 1989

Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models

artículo científico publicado en 2005

KLF6 is one transcription factor involved in regulating acid ceramidase gene expression.

artículo científico publicado en 2005

Light- and electron-microscopic histochemistry of Fabry's disease

artículo científico publicado en 1981

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

artículo científico publicado en 2004

Lipid content of brain, brain membrane lipid domains, and neurons from acid sphingomyelinase deficient mice

artículo científico publicado en 2008

Lipopolysaccharide Induces Disseminated Endothelial Apoptosis Requiring Ceramide Generation ⬇️

artículo científico publicado el 1 de diciembre de 1997

Loss of acid ceramidase in myeloid cells suppresses intestinal neutrophil recruitment.

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico

Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases

artículo científico publicado en 2007

Merits of Combination Cortical, Subcortical, and Cerebellar Injections for the Treatment of Niemann-Pick Disease Type A ⬇️

artículo científico publicado el 24 de julio de 2012

Molecular analysis of acid ceramidase deficiency in patients with Farber disease

artículo científico publicado en 2001

Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease

artículo científico publicado en 1996

Molecular cloning and characterization of a human cDNA and gene encoding a novel acid ceramidase-like protein

artículo científico publicado en 1999

Morbidity and mortality in type B Niemann–Pick disease ⬇️

artículo científico publicado el 14 de febrero de 2013

Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities

artículo científico publicado en 1988

Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation

scientific journal article

Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity

artículo científico publicado en 1992

Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog.

artículo científico publicado en 1991

Multi-omic profiles of hepatic metabolism in TPN-fed preterm pigs administered new generation lipid emulsions

artículo científico publicado en 2016

N-AS-triggered SPMs are direct regulators of microglia in a model of Alzheimer's disease

scientific article published on 12 May 2020

N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI

scientific article published on 01 December 1995

Neurodegeneration augments the ability of bone marrow-derived mesenchymal stem cells to fuse with Purkinje neurons in Niemann-Pick type C mice

artículo científico publicado en 2005

Neuronal SphK1 acetylates COX2 and contributes to pathogenesis in a model of Alzheimer's Disease.

artículo científico publicado en 2018

Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration.

artículo científico publicado en 2008

Neuropeptide Y Induces Hematopoietic Stem/Progenitor Cell Mobilization by Regulating Matrix Metalloproteinase-9 Activity Through Y1 Receptor in Osteoblasts

artículo científico publicado en 2016

Neuropeptide Y regulates the hematopoietic stem cell microenvironment and prevents nerve injury in the bone marrow

artículo científico publicado en 2015

Neutrophils Kill Reactive Oxygen Species-Resistant Pseudomonas aeruginosa by Sphingosine

artículo científico publicado en 2017

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

artículo científico publicado en 2008

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

artículo científico publicado en 1991

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

artículo científico publicado en 1997

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

artículo científico publicado en 2003

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

artículo científico publicado en 1991

Niemann–Pick Disease versus acid sphingomyelinase deficiency

artículo científico publicado en 2001

Nitric Oxide Boosts Chemoimmunotherapy via Inhibition of Acid Sphingomyelinase in a Mouse Model of Melanoma

article

Ocular manifestations of Niemann-Pick disease type B.

artículo científico publicado en 2004

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

artículo científico publicado en 2000

Pathological roles of the VEGF/SphK pathway in Niemann-Pick type C neurons

artículo científico publicado en 2014

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

artículo científico publicado en 2001

Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice

artículo científico publicado en 2018

Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs

artículo científico publicado en 2016

Pentosan polysulfate: a novel therapy for the mucopolysaccharidoses

artículo científico publicado en 2013

Pharmacological reversion of sphingomyelin-induced dendritic spine anomalies in a Niemann Pick disease type A mouse model

scientific article published on 21 January 2014

Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency

artículo científico publicado en 2016

Polyarticular arthritis as presenting feature of farber disease: a lysosomal storage disease involving inflammation.

artículo científico publicado en 2014

Potential role of acid sphingomyelinase in environmental health

artículo científico publicado en 2012

Preimplantation diagnosis of a lysosomal storage disorder by in situ enzymatic activity: 'proof of principle' in acid sphingomyelinase-deficient mice

artículo científico publicado en 2005

Preimplantation genetic diagnosis for Niemann-Pick disease type B.

artículo científico publicado en 2004

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.

artículo científico publicado en 2017

Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease

artículo científico publicado en 2009

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

artículo científico publicado en 2003

Purification, characterization, and biosynthesis of human acid ceramidase

artículo científico publicado en 1995

Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology and Pharmacology

artículo científico publicado en 2018

Quantitative analysis of sphingosine-1-phosphate by HPLC after napthalene-2,3-dicarboxaldehyde (NDA) derivatization

artículo científico publicado en 2009

Recombinant Acid Ceramidase Reduces Inflammation and Infection in Cystic Fibrosis

scientific article published on 22 June 2020

Recombinant Human Acid Sphingomyelinase as an Adjuvant to Sorafenib Treatment of Experimental Liver Cancer ⬇️

artículo científico publicado el 28 de mayo de 2013

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

artículo científico publicado en 2018

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

artículo científico publicado en 1991

Regional assignment of the structural gene for human alpha-L-iduronidase

artículo científico publicado en 1984

Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice

artículo científico publicado en 2002

Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer

artículo científico publicado en 1990

Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells ⬇️

artículo científico publicado el 15 de abril de 1992

Role of acidic sphingomyelinase in Fas/CD95-mediated cell death.

artículo científico publicado en 2000

SAT0493 Farber Disease: First Natural History Cohort Demonstrates a Broad Clinical Spectrum with Implications for Juvenile Idiopathic Arthritis Patients

artículo científico publicado en 2015

Safety Study of Sodium Pentosan Polysulfate for Adult Patients with Mucopolysaccharidosis Type II

artículo científico publicado en 2019

Secondary alterations of sphingolipid metabolism in lysosomal storage diseases.

artículo científico publicado en 2011

Signalling Effects Induced by Acid Ceramidase in Human Epithelial Or Leukemic Cell Lines

scientific article published on 01 January 2019

Simultaneous quantitative analysis of ceramide and sphingosine in mouse blood by naphthalene-2,3-dicarboxyaldehyde derivatization after hydrolysis with ceramidase

artículo científico publicado en 2005

Soluble CCL5 Derived from Bone Marrow-Derived Mesenchymal Stem Cells and Activated by Amyloid β Ameliorates Alzheimer's Disease in Mice by Recruiting Bone Marrow-Induced Microglia Immune Responses ⬇️

artículo científico publicado el 1 de julio de 2012

Sperm abnormalities in heterozygous acid sphingomyelinase knockout mice reveal a novel approach for the prevention of genetic diseases

artículo científico publicado en 2007

Sphingoid long chain bases prevent lung infection by Pseudomonas aeruginosa

artículo científico publicado en 2014

Sphingolipids as targets for inhalation treatment of cystic fibrosis

artículo científico publicado en 2018

Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency

scientific journal article

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

artículo científico publicado el 1 de febrero de 1992

Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome) ⬇️

artículo científico publicado el 28 de noviembre de 2012

Synergistic vasculogenic effects of AMD3100 and stromal-cell-derived factor-1α in vasa nervorum of the sciatic nerve of mice with diabetic peripheral neuropathy ⬇️

artículo científico publicado el 15 de agosto de 2013

Systemic ceramide accumulation leads to severe and varied pathological consequences.

artículo científico publicado en 2013

The Genetics of Sphingolipid Hydrolases and Sphingolipid Storage Diseases ⬇️

artículo científico publicado el 1 de enero de 2013

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

artículo científico publicado en 2002

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

artículo científico publicado en 1999

The molecular medicine of acid ceramidase

artículo científico

The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study

artículo científico publicado en 2004

The reverse activity of human acid ceramidase

artículo científico publicado en 2003

The sphingosine 1-phosphate receptor 1 causes tissue retention by inhibiting the entry of peripheral tissue T lymphocytes into afferent lymphatics

artículo científico publicado en 2007

The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases

artículo científico publicado en 2008

Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin

artículo científico publicado el 1 de diciembre de 1992

Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study

artículo científico publicado en 2016

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

artículo científico publicado en 1993

Types A and B Niemann-Pick Disease

artículo científico publicado en 2016

Types A and B Niemann-Pick disease

artículo científico

Types A and B Niemann-Pick disease

artículo científico publicado en 2016

Use of Acid Sphingomyelinase for Cancer Therapy

artículo científico publicado el 1 de enero de 2013

Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.

artículo científico publicado en 2017

Vascular and Neurogenic Rejuvenation in Aging Mice by Modulation of ASM

artículo científico publicado en 2018

Vascular and Neurogenic Rejuvenation in Aging Mice by Modulation of ASM

artículo científico publicado en 2018

β1-Integrin Accumulates in Cystic Fibrosis Luminal Airway Epithelial Membranes and Decreases Sphingosine, Promoting Bacterial Infections

artículo científico publicado en 2017

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