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Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches

Lysosomal storage disorders are a heterogenoeus group of rare genetic conditions affecting worldwide population and often exhibiting severe clinical manifestations. During the last two decades, the joined collaboration between scientists and clinicians has allowed to offer valuable therapeutic optio...

Ausführliche Beschreibung

Gespeichert in:
Format: Online
Sprache:Englisch
Veröffentlicht: MDPI - Multidisciplinary Digital Publishing Institute 2022
Schlagworte:
mucopolysaccharidosis IIIB
quantitative proteomics
NAGLU
lysosomes
Gaucher disease
bone involvement
enzyme replacement therapy
substrate reduction therapy
Osteoimmunology
RANK/RANKL
Osteopontin
MIP-1β
mucolipidosis II
sortilin
TGF-beta
cathepsin D
Fabry disease
alpha-galactosidase A
endocytosis
lysosome
IGF2R/M6P
clathrin
chloroquine
lysosomal diseases
precision medicine
pharmacological chaperones
gene therapy.
Pompe disease
lysosomal targeting
autophagy
gene therapy
muscle
satellite cells
rhGAA
glycogen
lysosomal α-glucosidase
GAA biomarker
Gaucher Disease
Wnt/β-catenin
Dkk1
Wnt3a
iPSC
neuronopathy
Krabbe disease
Twitcher mouse
psychosine
visual system
visual cortex
astrogliosis
mucopolysaccharidosis type I
Hurler syndrome
hematopoietic stem cell transplantations
animal models
experimental therapies
axon guidance
lysosomal storage disorders
neuronal circuit
α-galactosidase A
A4GALT
globotriaosylceramide (Gb3)
globotriaosyl-sphingosine (lysoGb3)
pharmacological chaperone therapy
exosomes
endocytic pathways
neurodegenerative disease
Parkinson disease
lysosomal storage disorder
viral vectors
newborn screening
variant interpretation
second tier test
tandem mass spectrometry
lyso-Gb3
dried blood spot
GLA gene
globotriaosylsphingosine
biomarkers
thema EDItEUR::M Medicine and Nursing
Online-Zugang:ONIX_20220111_9783036519678_618
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