Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes. (Q35049000)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25488666%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25488666%20AND%20SRC:MED&resulttype=core&format=json

Human Induced Pluripotent Stem Cells

24 February 2020

main subject

1 reference

1 reference

11

1 reference

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24 February 2020

7

Priya S Kishnani

1 reference

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24 February 2020

author name string

Kunil K Raval

1

1 reference

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24 February 2020

Ran Tao

2

1 reference

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24 February 2020

Brent E White

3

1 reference

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24 February 2020

Willem J De Lange

4

1 reference

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24 February 2020

Chad H Koonce

5

1 reference

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24 February 2020

Junying Yu

6

1 reference

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24 February 2020

James A Thomson

8

1 reference

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24 February 2020

Deane F Mosher

9

1 reference

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24 February 2020

John C Ralphe

10

1 reference

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24 February 2020

language of work or name

English

0 references

publication date

8 December 2014

1 reference

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Journal of Biological Chemistry

24 February 2020

published in

1 reference

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24 February 2020

volume

290

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24 February 2020

issue

5

1 reference

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24 February 2020

page(s)

3121-3136

1 reference

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Solving glycosylation disorders: fundamental approaches reveal complicated pathways

24 February 2020

cites work

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The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy

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8 July 2018

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The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII).

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From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

8 July 2018

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Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten

8 July 2018

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Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE

8 July 2018

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Human engineered heart tissue as a versatile tool in basic research and preclinical toxicology

8 July 2018

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Sarcolemma instability during mechanical activity in Largemyd cardiac myocytes with loss of dystroglycan extracellular matrix receptor function

8 July 2018

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Neonatal mouse-derived engineered cardiac tissue: a novel model system for studying genetic heart disease

8 July 2018

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G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction

8 July 2018

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Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

8 July 2018

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Congenital Muscular Dystrophy Overview

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Impaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease

8 July 2018

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Autophagy in skeletal muscle: implications for Pompe disease

8 July 2018

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Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease

8 July 2018

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8 July 2018

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Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease

8 July 2018

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Essential and mutually compensatory roles of {alpha}-mannosidase II and {alpha}-mannosidase IIx in N-glycan processing in vivo in mice

8 July 2018

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COG complex-mediated recycling of Golgi glycosyltransferases is essential for normal protein glycosylation

8 July 2018

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8 July 2018

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Altered glycan structures: the molecular basis of congenital disorders of glycosylation

8 July 2018

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Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy

8 July 2018

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High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology

8 July 2018

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Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

8 July 2018

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Calcium-calcineurin signaling in the regulation of cardiac hypertrophy

8 July 2018

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Molecular recognition by LARGE is essential for expression of functional dystroglycan

8 July 2018

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Cardiomyopathy in congenital disorders of glycosylation.

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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Regulation of the lysosome-associated membrane protein in a sucrose model of lysosomal storage

8 July 2018

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alpha-Dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability.

8 July 2018

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The extent of polylactosamine glycosylation of MDCK LAMP-2 is determined by its Golgi residence time

8 July 2018

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Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis.

8 July 2018

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Laminin-induced clustering of dystroglycan on embryonic muscle cells: comparison with agrin-induced clustering.

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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Lysosome-associated membrane proteins: characterization of LAMP-1 of macrophage P388 and mouse embryo 3T3 cultured cells

8 July 2018

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Brefeldin A causes disassembly of the Golgi complex and accumulation of secretory proteins in the endoplasmic reticulum

8 July 2018

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Isolation and characterization of human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2. Major sialoglycoproteins carrying polylactosaminoglycan

8 July 2018

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Computerized quantitative analysis of coomassie-blue-stained serum proteins separated by two-dimensional electrophoresis.

8 July 2018

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The polylactosaminoglycans of human lysosomal membrane glycoproteins lamp-1 and lamp-2. Localization on the peptide backbones

8 July 2018

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Removal of sialic acid alters both T- and L-type calcium currents in cardiac myocytes

8 July 2018

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Removal of sarcolemmal sialic acid residues results in a loss of sarcolemmal functioning and integrity

8 July 2018

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Biochemical, immunological, and cell genetic studies in glycogenosis type II

8 July 2018

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8 July 2018

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A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

8 July 2018

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Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.

21 January 2018

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Development of a drug screening platform based on engineered heart tissue

21 January 2018

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Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor

21 January 2018

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Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

21 January 2018

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Enzyme replacement therapy in the mouse model of Pompe disease

21 January 2018

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Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis

21 January 2018

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Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin

21 January 2018

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Differential secretion of alpha 1-acid glycoprotein occurs in the Golgi complex of isolated rat hepatocytes. Evidence of partial retention in the Golgi.

21 January 2018

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Channel sialic acids limit hERG channel activity during the ventricular action potential

21 January 2018

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Expression of the sialyltransferase, ST3Gal4, impacts cardiac voltage-gated sodium channel activity, refractory period and ventricular conduction

21 January 2018

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Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II

21 January 2018

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12 December 2020

Ultrastructural changes of the myocardium in the embryonic rat heart

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12 December 2020

Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker

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12 December 2020

Dependence of cardiac cell Ca2+ permeability on sialic acid-containing sarcolemmal gangliosides

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12 December 2020

Left Ventricular Geometry, Global Function, and Dyssynchrony in Infants and Children With Pompe Cardiomyopathy Undergoing Enzyme Replacement Therapy

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12 December 2020

Purification and properties of the glycoprotein processing N-acetylglucosaminyltransferase II from plants

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12 December 2020

Initiation of poly-N-acetyllactosamine chain biosynthesis occurs preferentially on complex multiantennary asparagine-linked oligosaccharides

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12 December 2020

A comprehensive procedure for preparation of partially methylated alditol acetates from glycoprotein carbohydrates

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12 December 2020

Identifiers

DOI

10.1074/JBC.M114.628628

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25488666%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25488666%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference