about
The proteome of lysosomesThe varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degenerationHsp70.1 and related lysosomal factors for necrotic neuronal deathDrug-induced phospholipidosisLysosomal integral membrane protein-2: a new player in lysosome-related pathologyTay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradationA microfluidic device with fluorimetric detection for intracellular components analysis.Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease.Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in α-mannosidosis.Quantifying the white blood cell transcriptome as an accessible window to the multiorgan transcriptome.Lysosomes shape Ins(1,4,5)P3-evoked Ca2+ signals by selectively sequestering Ca2+ released from the endoplasmic reticulum.Proteomic analysis of lysosomal acid hydrolases secreted by osteoclasts: implications for lytic enzyme transport and bone metabolism.Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.A genetic screen in Drosophila reveals novel cytoprotective functions of the autophagy-lysosome pathway.Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy.Cell biology and physiology of the uroepithelium.Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory.Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.Transplantation and magnetic resonance imaging of canine neural progenitor cell grafts in the postnatal dog brainIndividual organelle pH determinations of magnetically enriched endocytic organelles via laser-induced fluorescence detectionTwo dileucine motifs mediate late endosomal/lysosomal targeting of transmembrane protein 192 (TMEM192) and a C-terminal cysteine residue is responsible for disulfide bond formation in TMEM192 homodimers.Insights into the evolutionary features of human neurodegenerative diseases.Metallothioneins as dynamic markers for brain disease in lysosomal disordersImino sugar inhibitors for treating the lysosomal glycosphingolipidoses.Umbilical cord blood banking: an updateNeural stem cell gene therapy ameliorates pathology and function in a mouse model of globoid cell leukodystrophy.Imaging gene delivery in a mouse model of congenital neuronal ceroid lipofuscinosis.Analysis of urinary oligosaccharides in lysosomal storage disorders by capillary high-performance anion-exchange chromatography-mass spectrometry.Revealing the fate of cell surface human P-glycoprotein (ABCB1): The lysosomal degradation pathway.Spectrum of paediatric lysosomal storage disorders in oman.Metabolomics study on primary dysmenorrhea patients during the luteal regression stage based on ultra performance liquid chromatography coupled with quadrupole‑time‑of‑flight mass spectrometry.Current and emerging therapies for the lysosomal storage disorders.Haemopoietic stem cell transplantation for genetic disorders.Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.Nanomedicines and nanotoxicology: some physiological principles.Tripeptidyl-peptidase I in health and disease.Pharmacotherapeutic strategies using small molecules for the treatment of glycolipid lysosomal storage disorders.Expanding the role of umbilical cord blood transplantation.Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes.The H syndrome is caused by mutations in the nucleoside transporter hENT3.
P2860
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P2860
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Lysosomal storage disorders.
@ast
Lysosomal storage disorders.
@en
type
label
Lysosomal storage disorders.
@ast
Lysosomal storage disorders.
@en
prefLabel
Lysosomal storage disorders.
@ast
Lysosomal storage disorders.
@en
P2860
P1476
Lysosomal storage disorders.
@en
P2093
Ashok Vellodi
P2860
P304
P356
10.1111/J.1365-2141.2004.05293.X
P407
P577
2005-02-01T00:00:00Z