Autophagy in skeletal muscle: implications for Pompe disease
about
Laforin, the most common protein mutated in Lafora disease, regulates autophagyDeleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunityRole of autophagy in glycogen breakdown and its relevance to chloroquine myopathyA Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem ProteinopathyPompe disease: from pathophysiology to therapy and back againAllele copy number and underlying pathology are associated with subclinical severity in equine type 1 polysaccharide storage myopathy (PSSM1)Genotype-phenotype correlation in Pompe disease, a step forward.Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes.Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease."Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular DisordersEnhanced delivery of α-glucosidase for Pompe disease by ICAM-1-targeted nanocarriers: comparative performance of a strategy for three distinct lysosomal storage disorders.Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine.Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity.Biomarkers in Lysosomal Storage DiseasesAAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease.The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.Novel degenerative and developmental defects in a zebrafish model of mucolipidosis type IV.
P2860
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P2860
Autophagy in skeletal muscle: implications for Pompe disease
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Autophagy in skeletal muscle: implications for Pompe disease
@ast
Autophagy in skeletal muscle: implications for Pompe disease
@en
Autophagy in skeletal muscle: implications for Pompe disease
@nl
type
label
Autophagy in skeletal muscle: implications for Pompe disease
@ast
Autophagy in skeletal muscle: implications for Pompe disease
@en
Autophagy in skeletal muscle: implications for Pompe disease
@nl
prefLabel
Autophagy in skeletal muscle: implications for Pompe disease
@ast
Autophagy in skeletal muscle: implications for Pompe disease
@en
Autophagy in skeletal muscle: implications for Pompe disease
@nl
P2860
P1476
Autophagy in skeletal muscle: implications for Pompe disease
@en
P2860
P478
47 Suppl 1
P577
2009-01-01T00:00:00Z