Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease (Q36870093)

16 August 2017

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

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16 August 2017

Erin Feeney

2

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Fabio Annunziata

object named as

Fabio Annunziata

6

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Andrea Ballabio

object named as

Andrea Ballabio

11

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Monica Cardone

4

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Monica Cardone

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16 August 2017

Carmine Spampanato

1

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16 August 2017

Lishu Li

3

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16 August 2017

Jeong-A Lim

5

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16 August 2017

Hossein Zare

7

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16 August 2017

Roman Polishchuk

8

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16 August 2017

Rosa Puertollano

9

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16 August 2017

Giancarlo Parenti

10

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16 August 2017

Nina Raben

12

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16 August 2017

18 April 2013

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16 August 2017

EMBO Molecular Medicine

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16 August 2017

5

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16 August 2017

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16 August 2017

691-706

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describes a project that uses

16 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3662313/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Glycosylation-independent lysosomal targeting of acid α-glucosidase enhances muscle glycogen clearance in pompe mice

1 reference

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A bacterial glycosidase enables mannose-6-phosphate modification and improved cellular uptake of yeast-produced recombinant human lysosomal enzymes

29 September 2017

1 reference

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δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders

29 September 2017

1 reference

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The transcription factor TFEB links mTORC1 signaling to transcriptional control of lysosome homeostasis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Autophagy in lysosomal storage disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB.

29 September 2017

1 reference

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A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

29 September 2017

1 reference

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The genotype-phenotype correlation in Pompe disease

29 September 2017

1 reference

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

29 September 2017

1 reference

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β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease

29 September 2017

1 reference

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Enzyme replacement therapy for Pompe disease.

29 September 2017

1 reference

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The cellular pathology of lysosomal diseases

29 September 2017

1 reference

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Enzyme replacement therapy for lysosomal storage diseases

29 September 2017

1 reference

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Transcriptional activation of lysosomal exocytosis promotes cellular clearance

29 September 2017

1 reference

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The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

29 September 2017

1 reference

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TFEB links autophagy to lysosomal biogenesis

29 September 2017

1 reference

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Pompe disease gene therapy.

29 September 2017

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Cyclodextrin Induces Calcium-Dependent Lysosomal Exocytosis

29 September 2017

1 reference

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Recent developments in therapeutic approaches for lysosomal storage diseases

29 September 2017

1 reference

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Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

29 September 2017

1 reference

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Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease

29 September 2017

1 reference

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Discovery of 1-(4-(4-propionylpiperazin-1-yl)-3-(trifluoromethyl)phenyl)-9-(quinolin-3-yl)benzo[h][1,6]naphthyridin-2(1H)-one as a highly potent, selective mammalian target of rapamycin (mTOR) inhibitor for the treatment of cancer

29 September 2017

1 reference

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A randomized study of alglucosidase alfa in late-onset Pompe's disease

29 September 2017

1 reference

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Mammalian autophagy: core molecular machinery and signaling regulation

29 September 2017

1 reference

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DNA transfection of mammalian skeletal muscles using in vivo electroporation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Immortalization of murine muscle cells from lysosomal alpha-glucosidase deficient mice: a new tool to study pathophysiology and assess therapeutic strategies for Pompe disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

A gene network regulating lysosomal biogenesis and function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts

29 September 2017

1 reference

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Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease

29 September 2017

1 reference

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Monitoring autophagy in lysosomal storage disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

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

29 September 2017

1 reference

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Therapeutic approaches in glycogen storage disease type II/Pompe Disease.

29 September 2017

1 reference

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29 September 2017

1 reference

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Neuraminidase 1 is a negative regulator of lysosomal exocytosis

29 September 2017

1 reference

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

29 September 2017

1 reference

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Role of autophagy in the pathogenesis of Pompe disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

A block of autophagy in lysosomal storage disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Lysosomes: fusion and function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npc1 -/- mouse brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Identification of SNAREs involved in synaptotagmin VII-regulated lysosomal exocytosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Regulated secretion of conventional lysosomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Direct derivation of conditionally immortal cell lines from an H-2Kb-tsA58 transgenic mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

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.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Expression of the insulin-like growth factor-II/mannose-6-phosphate receptor in multiple human tissues during fetal life and early infancy

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Exocytosis of storage material in a lysosomal disorder

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

TFEB regulates autophagy: An integrated coordination of cellular degradation and recycling processes

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662313

Generation of induced pluripotent stem (iPS) cells derived from a murine model of Pompe disease and differentiation of Pompe-iPS cells into skeletal muscle cells

4 December 2018

1 reference

12 December 2020

Culturing satellite cells from living single muscle fiber explants

1 reference

12 December 2020

SV40 Large T Antigen Interferes with Adult Myosin Heavy Chain Expression, but Not with Differentiation of Human Satellite Cells

1 reference

12 December 2020

Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease

1 reference

12 December 2020

Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II

1 reference

12 December 2020

Identifiers

DOI

10.1002/EMMM.201202176

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

23606558

1 reference