Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)
about
Glucose induces sensitivity to oxygen deprivation and modulates insulin/IGF-1 signaling and lipid biosynthesis in Caenorhabditis elegans.Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse modelsSphingomyelinases: their regulation and roles in cardiovascular pathophysiology.Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage diseaseImprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick diseaseReproductive pathology and sperm physiology in acid sphingomyelinase-deficient miceSperm abnormalities in heterozygous acid sphingomyelinase knockout mice reveal a novel approach for the prevention of genetic diseases.Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.Genetics of Lipid-Storage Management in Caenorhabditis elegans EmbryosThe unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cellsThe demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.Roles and regulation of secretory and lysosomal acid sphingomyelinase.Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease.Biological roles of Acid and neutral sphingomyelinases and their regulation by nitric oxide.The emerging role of acid sphingomyelinase in autophagy.SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson's Disease.Occurrence of two molecular forms of human acid sphingomyelinase.Signal transduction of stress via ceramide.A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells.Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures.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.Sphingomyelin phosphodiesterase (SMPD1) hydrolyses sphingomyelin to ceramide (lysosome)Types A and B Niemann-Pick disease.
P2860
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P2860
Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)
description
1992 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1992
@ast
im Februar 1992 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1992/02/01)
@sk
vědecký článek publikovaný v roce 1992
@cs
wetenschappelijk artikel (gepubliceerd op 1992/02/01)
@nl
наукова стаття, опублікована в лютому 1992
@uk
научни чланак (објављен 1992/02/01)
@sr
name
Structural organization and co ...... acid sphingomyelinase (SMPD1)
@ast
Structural organization and co ...... acid sphingomyelinase (SMPD1)
@en
Structural organization and co ...... acid sphingomyelinase (SMPD1)
@nl
type
label
Structural organization and co ...... acid sphingomyelinase (SMPD1)
@ast
Structural organization and co ...... acid sphingomyelinase (SMPD1)
@en
Structural organization and co ...... acid sphingomyelinase (SMPD1)
@nl
prefLabel
Structural organization and co ...... acid sphingomyelinase (SMPD1)
@ast
Structural organization and co ...... acid sphingomyelinase (SMPD1)
@en
Structural organization and co ...... acid sphingomyelinase (SMPD1)
@nl
P2093
P1433
P1476
Structural organization and co ...... acid sphingomyelinase (SMPD1)
@en
P2093
E. H. Schuchman
L. V. Pereira
R. J. Desnick
P304
P356
10.1016/0888-7543(92)90366-Z
P407
P577
1992-02-01T00:00:00Z