Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models
about
The structure and catalytic mechanism of human sphingomyelin phosphodiesterase like 3a--an acid sphingomyelinase homologue with a novel nucleotide hydrolase activitySphingomyelin phosphodiesterase acid-like 3A (SMPDL3A) is a novel nucleotide phosphodiesterase regulated by cholesterol in human macrophagesIdentification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick diseaseRegulated secretion of acid sphingomyelinase: implications for selectivity of ceramide formation.A novel mechanism of lysosomal acid sphingomyelinase maturation: requirement for carboxyl-terminal proteolytic processing.Multivesicular bodies in neurons: distribution, protein content, and trafficking functions.Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout miceCathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann-Pick disease.Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity.Genetics of Lipid-Storage Management in Caenorhabditis elegans EmbryosThe roles of neutral sphingomyelinases in neurological pathologies.SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.High lumenal chloride in the lysosome is critical for lysosome function.Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patientsTypes A and B Niemann-Pick disease.Metabolic etiologies in West syndrome.A Robust Liposomal Platform for Direct Colorimetric Detection of Sphingomyelinase Enzyme and Inhibitors
P2860
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P2860
Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models
description
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2008
@ast
im September 2008 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 2008/11/01)
@sk
vědecký článek publikovaný v roce 2008
@cs
wetenschappelijk artikel (gepubliceerd op 2008/11/01)
@nl
наукова стаття, опублікована в листопаді 2008
@uk
مقالة علمية (نشرت في نوفمبر 2008)
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name
Characterization of common SMP ...... mutation-specific mouse models
@ast
Characterization of common SMP ...... mutation-specific mouse models
@en
Characterization of common SMP ...... mutation-specific mouse models
@nl
type
label
Characterization of common SMP ...... mutation-specific mouse models
@ast
Characterization of common SMP ...... mutation-specific mouse models
@en
Characterization of common SMP ...... mutation-specific mouse models
@nl
prefLabel
Characterization of common SMP ...... mutation-specific mouse models
@ast
Characterization of common SMP ...... mutation-specific mouse models
@en
Characterization of common SMP ...... mutation-specific mouse models
@nl
P2093
P2860
P1476
Characterization of common SMP ...... mutation-specific mouse models
@en
P2093
Edward H Schuchman
Fourogh Katouzian
Iwan Jones
Xingxuan He
P2860
P304
P356
10.1016/J.YMGME.2008.08.004
P577
2008-09-23T00:00:00Z