Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker
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Dysregulation of lysosomal morphology by pathogenic LRRK2 is corrected by TPC2 inhibitionTrafficking and Functions of Bioactive Sphingolipids: Lessons from Cells and Model MembranesPathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathwayBiomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff diseaseHeat shock protein-based therapy as a potential candidate for treating the sphingolipidoses.High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data setsA novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1.Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.Modeling the effects of cyclodextrin on intracellular membrane vesicles from Cos-7 cells prepared by sonication and carbonate treatment.Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain.pH homeostasis links the nutrient sensing PKA/TORC1/Sch9 ménage-à-trois to stress tolerance and longevity.Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trialsModeling Niemann-Pick disease type C1 in zebrafish: a robust platform for screening of candidate therapeutic compounds
P2860
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P2860
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on March 2014
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker
@en
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
@nl
type
label
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker
@en
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
@nl
prefLabel
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker
@en
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
@nl
P2093
P2860
P50
P356
P1476
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker
@en
P2093
Alison Cousins
Arndt Rolfs
Begona Arias
Caroline Hastings
Christian J Hendriksz
Clare Taylor
Daniel J Sillence
Daniel S Ory
Danielle te Vruchte
David A Smith
P2860
P304
P356
10.1172/JCI72835
P407
P577
2014-03-01T00:00:00Z