about
Starch binding domain-containing protein 1/genethonin 1 is a novel participant in glycogen metabolismAutophagy in lysosomal storage disordersClarifying lysosomal storage diseasesNew insights into therapeutic options for Pompe diseaseCellular and molecular mechanisms of muscle atrophyAutophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgottenDisrupted autophagy undermines skeletal muscle adaptation and integrityStarch-binding domain-containing protein 1 (Stbd1) and glycogen metabolism: Identification of the Atg8 family interacting motif (AIM) in Stbd1 required for interaction with GABARAPL1The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe diseaseMetabolomic Profiling of Pompe Disease-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveals That Oxidative Stress Is Associated with Cardiac and Skeletal Muscle PathologyImpaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease.Common and uncommon pathogenic cascades in lysosomal storage diseasesAutophagy in skeletal muscle: implications for Pompe diseaseRole of autophagy in the pathogenesis of Pompe disease.Hydrostatic isolated limb perfusion with adeno-associated virus vectors enhances correction of skeletal muscle in Pompe disease.The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease.When more is less: excess and deficiency of autophagy coexist in skeletal muscle in Pompe disease.Relationship between glycogen accumulation and the laforin dual specificity phosphatase.Muscle glycogen remodeling and glycogen phosphate metabolism following exhaustive exercise of wild type and laforin knockout mice.Membrane trafficking in neuronal maintenance and degeneration.Hypothyroidism in late-onset Pompe disease.Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease.Glycogen and its metabolism: some new developments and old themes.The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patientsPattern and prognostic value of cardiac involvement in patients with late-onset pompe disease: a comprehensive cardiovascular magnetic resonance approach.Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease.Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.Skeletal muscle fiber type: using insights from muscle developmental biology to dissect targets for susceptibility and resistance to muscle disease.Autophagy, a guardian against neurodegeneration.Autophagy and misfolded proteins in neurodegeneration.Enzyme replacement therapy for Pompe disease.Ca2+ in quality control: an unresolved riddle critical to autophagy and mitophagy.The infantile-onset form of Pompe disease: an autopsy diagnosis.Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS CellsAbnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts.Evidence of lysosomal membrane permeabilization in mucopolysaccharidosis type I: rupture of calcium and proton homeostasis.Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype.
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Autophagy and lysosomes in Pompe disease.
@ast
Autophagy and lysosomes in Pompe disease.
@en
type
label
Autophagy and lysosomes in Pompe disease.
@ast
Autophagy and lysosomes in Pompe disease.
@en
prefLabel
Autophagy and lysosomes in Pompe disease.
@ast
Autophagy and lysosomes in Pompe disease.
@en
P2093
P356
P1433
P1476
Autophagy and lysosomes in Pompe disease.
@en
P2093
Ashley Roberts
Evelyn Ralston
Kristien Zaal
Meghan Ahearn
Nina Raben
Paul H Plotz
Tokiko Fukuda
P304
P356
10.4161/AUTO.2984
P577
2006-10-05T00:00:00Z