Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease (Q35853122)

10 August 2017

Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease (English)

1 reference

10 August 2017

Jeong-A Lim

1

1 reference

10 August 2017

Lishu Li

2

1 reference

10 August 2017

Or Kakhlon

3

1 reference

10 August 2017

Rachel Myerowitz

4

1 reference

10 August 2017

Nina Raben

5

1 reference

10 August 2017

1 January 2015

1 reference

10 August 2017

18

1 reference

inferred from page(s)

published in

Autophagy

1 reference

10 August 2017

11

1 reference

10 August 2017

2

1 reference

10 August 2017

385-402

1 reference

describes a project that uses

10 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4502791/fullTextXML

inferred from PubMed Central ID database lookup

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Parkin and PINK1 function in a vesicular trafficking pathway regulating mitochondrial quality control

11 July 2018

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The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

11 July 2018

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11 July 2018

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Skeletal muscle excitation-contraction coupling: who are the dancing partners?

11 July 2018

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11 July 2018

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Skeletal muscle mitochondria: a major player in exercise, health and disease

11 July 2018

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High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy

11 July 2018

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The physiological role of mitochondrial calcium revealed by mice lacking the mitochondrial calcium uniporter.

11 July 2018

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Loss of iron triggers PINK1/Parkin-independent mitophagy

11 July 2018

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Quality control gone wrong: mitochondria, lysosomal storage disorders and neurodegeneration

11 July 2018

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Mechanisms of skeletal muscle aging: insights from Drosophila and mammalian models

11 July 2018

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Defective quality control mechanisms and accumulation of damaged mitochondria link Gaucher and Parkinson diseases

11 July 2018

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Modulation of intracellular calcium homeostasis blocks autophagosome formation

11 July 2018

1 reference

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Mitochondrial dysfunction and sarcopenia of aging: from signaling pathways to clinical trials

11 July 2018

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Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

11 July 2018

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Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease

11 July 2018

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PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondria

11 July 2018

1 reference

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Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

11 July 2018

1 reference

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Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies.

11 July 2018

1 reference

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Regulation of mTORC1 by the Rag GTPases is necessary for neonatal autophagy and survival.

11 July 2018

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Mitochondrial hexokinase HKI is a novel substrate of the Parkin ubiquitin ligase

11 July 2018

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Defects in mitochondrial localization and ATP synthesis in the mdx mouse model of Duchenne muscular dystrophy are not alleviated by PDE5 inhibition

11 July 2018

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Withdrawal of essential amino acids increases autophagy by a pathway involving Ca2 /calmodulin-dependent kinase kinase-β (CaMKK-β)

11 July 2018

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A simple protocol for the subcellular fractionation of skeletal muscle cells and tissue.

11 July 2018

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Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients

11 July 2018

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Mitochondrial fission, fusion, and stress

11 July 2018

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Skeletal muscle mitochondria and aging: a review

11 July 2018

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Autophagy in lysosomal storage disorders

11 July 2018

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The emerging phenotype of long-term survivors with infantile Pompe disease.

11 July 2018

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Mitochondria: in sickness and in health

11 July 2018

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

11 July 2018

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Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases

11 July 2018

1 reference

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mTORC1 senses lysosomal amino acids through an inside-out mechanism that requires the vacuolar H( )-ATPase

11 July 2018

1 reference

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Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies

11 July 2018

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Distinct autophagosomal-lysosomal fusion mechanism revealed by thapsigargin-induced autophagy arrest

11 July 2018

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Lysosomal positioning coordinates cellular nutrient responses.

11 July 2018

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11 July 2018

Mechanisms of mitophagy

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Endoplasmic reticulum Ca2 increases enhance mutant glucocerebrosidase proteostasis.

11 July 2018

1 reference

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Verapamil enhances the antitumoral efficacy of oncolytic adenoviruses

11 July 2018

1 reference

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Mitochondrial dysfunction and oxidative stress mediate the physiological impairment induced by the disruption of autophagy

11 July 2018

1 reference

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PINK1 is selectively stabilized on impaired mitochondria to activate Parkin

11 July 2018

1 reference

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AMPK-independent induction of autophagy by cytosolic Ca2 increase.

11 July 2018

1 reference

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GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2 )-dependent mitochondrial apoptosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

11 July 2018

1 reference

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Mitochondrial turnover and aging of long-lived postmitotic cells: the mitochondrial-lysosomal axis theory of aging

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

11 July 2018

1 reference

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Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease

11 July 2018

1 reference

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The voltage-gated calcium-channel beta subunit: more than just an accessory

11 July 2018

1 reference

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TopHat: discovering splice junctions with RNA-Seq

11 July 2018

1 reference

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Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches

11 July 2018

1 reference

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Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Mitochondrial fusion, fission and autophagy as a quality control axis: the bioenergetic view

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Fission and selective fusion govern mitochondrial segregation and elimination by autophagy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

"Fluorescent glycogen" formation with sensibility for in vivo and in vitro detection

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Role of autophagy in the pathogenesis of Pompe disease.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

A block of autophagy in lysosomal storage disorders

11 July 2018

1 reference

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Autophagy: from phenomenology to molecular understanding in less than a decade

11 July 2018

1 reference

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The autophagic response to nutrient deprivation in the hl-1 cardiac myocyte is modulated by Bcl-2 and sarco/endoplasmic reticulum calcium stores

11 July 2018

1 reference

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Control of macroautophagy by calcium, calmodulin-dependent kinase kinase-beta, and Bcl-2.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Bax affects production of reactive oxygen by the mitochondria of non-apoptotic neurons

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease

11 July 2018

1 reference

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Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Selective mitochondrial autophagy, or mitophagy, as a targeted defense against oxidative stress, mitochondrial dysfunction, and aging

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

The molecular machinery of autophagy: unanswered questions

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Mitochondria exert a negative feedback on the propagation of intracellular Ca2 waves in rat cortical astrocytes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Molecular characterization of mitochondrial apoptosis-inducing factor

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Absence of the beta subunit (cchb1) of the skeletal muscle dihydropyridine receptor alters expression of the alpha 1 subunit and eliminates excitation-contraction coupling

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

The pCL vector system: rapid production of helper-free, high-titer, recombinant retroviruses

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

High passage numbers induce resistance to apoptosis in C2C12 muscle cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Systemic metabolic abnormalities in adult-onset acid maltase deficiency: beyond muscle glycogen accumulation

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Cell Biology. Mitochondrial dynamics and apoptosis--the ER connection.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

The age-dependent induction of apoptosis-inducing factor (AIF) in the human semitendinosus skeletal muscle.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Diltiazem and verapamil protect dystrophin-deficient muscle fibers of MDX mice from degeneration: a potential role in calcium buffering and sarcolemmal stability.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Mitochondrial aberrations in mucolipidosis Type IV.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

Calpain I induces cleavage and release of apoptosis-inducing factor from isolated mitochondria

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502791

RNA-Seq: a method for comprehensive transcriptome analysis

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1080/15548627.2015.1009779

Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1080/15548627.2015.1009779

Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited

21 January 2018

1 reference

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Altered calcium regulation in isolated cardiomyocytes from Egr-1 knock-out mice

14 November 2018

1 reference

12 December 2020

Nuclear translocation of EndoG at the initiation of disuse muscle atrophy and apoptosis is specific to myonuclei

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12 December 2020

Lysosome positioning coordinates mTORC1 activity and autophagy

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12 December 2020

High tide of calcium in mitochondria

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12 December 2020

Lysosomal storage diseases as disorders of autophagy

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12 December 2020

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Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

25758767

1 reference