当前位置： SCI文献检索 > Molecular Therapy-Methods & Clinical Development期刊下所有文献 > TFEB overexpression promotes glycogen clearance of Pompe disease iPSC-derived skeletal muscle.

TFEB overexpression promotes glycogen clearance of Pompe disease iPSC-derived skeletal muscle.

Abstract：

:Pompe disease (PD) is a lysosomal disorder caused by acid α-glucosidase (GAA) deficiency. Progressive muscular weakness is the major symptom of PD, and enzyme replacement therapy can improve the clinical outcome. However, to achieve a better clinical outcome, alternative therapeutic strategies are being investigated, including gene therapy and pharmacological chaperones. We previously used lentiviral vector-mediated GAA gene transfer in PD patient-specific induced pluripotent stem cells. Some therapeutic efficacy was observed, although glycogen accumulation was not normalized. Transcription factor EB is a master regulator of lysosomal biogenesis and autophagy that has recently been associated with muscular pathology, and is now a potential therapeutic target in PD model mice. Here, we differentiated skeletal muscle from PD patient-specific induced pluripotent stem cells by forced MyoD expression. Lentiviral vector-mediated GAA and transcription factor EB gene transfer independently improved GAA enzyme activity and reduced glycogen content in skeletal muscle derived from PD-induced pluripotent stem cells. Interestingly, GAA and transcription factor EB cooperatively improved skeletal muscle pathology, both biochemically and morphologically. Thus, our findings show that abnormal lysosomal biogenesis is associated with the muscular pathology of PD, and transcription factor EB gene transfer is effective as an add-on strategy to GAA gene transfer.

journal_name

Mol Ther Methods Clin Dev

journal_title

Molecular therapy. Methods & clinical development

authors

Sato Y,Kobayashi H,Higuchi T,Shimada Y,Ida H,Ohashi T

doi

10.1038/mtm.2016.54

subject

Has Abstract

pub_date

2016-08-10 00:00:00

pages

16054

issn

2329-0501

journal_volume

3

pub_type

杂志文章

相关文献

Molecular Therapy-Methods & Clinical Development文献大全
  • Urocortin 2 Gene Transfer Improves Glycemic Control and Reduces Retinopathy and Mortality in Murine Insulin Deficiency.

    abstract：:Type 1 diabetes affects 20 million patients worldwide. Insulin is the primary and commonly the sole therapy for type 1 diabetes. However, only a minority of patients attain the targeted glucose control and reduced adverse events. We tested urocortin 2 gene transfer as single-agent therapy for insulin deficiency using ...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2019.12.002

    authors： Gao MH,Giamouridis D,Lai NC,Guo T,Xia B,Kim YC,Huu VAN,Skowronska-Krawczyk D,Lantier L,Bhargava R,Hammond HK

    更新日期：2019-12-14 00:00:00

  • Clodronate Improves Survival of Transplanted Hoxb8 Myeloid Progenitors with Constitutively Active GMCSFR in Immunocompetent Mice.

    abstract：:New methods to produce large numbers of myeloid progenitor cells, precursors to macrophages (MΦs), by maintaining Hoxb8 transcription factor activity1 has reinvigorated interest in MΦ cell therapies. We generated Hoxb8-dependent myeloid progenitors (HDPs) by transducing lineage-negative bone marrow cells with a consti...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2017.08.007

    authors： Lee S,Kivimäe S,Szoka FC

    更新日期：2017-09-07 00:00:00

  • Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease.

    abstract：:We present an overview of clinical trials involving gene editing using clustered interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein 9 (Cas9), transcription activator-like effector nucleases (TALENs), or zinc finger nucleases (ZFNs) and discuss the underlying mechanisms. In cancer immunotherapy, g...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章,评审

    doi：10.1016/j.omtm.2020.06.022

    authors： Ernst MPT,Broeders M,Herrero-Hernandez P,Oussoren E,van der Ploeg AT,Pijnappel WWMP

    更新日期：2020-07-03 00:00:00

  • Genetic barcode sequencing for screening altered population dynamics of hematopoietic stem cells transduced with lentivirus.

    abstract：:Insertional mutagenesis has been associated with malignant cell transformation in gene therapy protocols, leading to discussions about vector security. Therefore, clonal analysis is important for the assessment of vector safety and its impact on patient health. Here, we report a unique approach to assess dynamic chang...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1038/mtm.2014.52

    authors： Zanatta DB,Tsujita M,Borelli P,Aguiar RB,Ferrari DG,Strauss BE

    更新日期：2014-11-19 00:00:00

  • piggyBac-mediated phenotypic correction of factor VIII deficiency.

    abstract：:Hemophilia A, caused by a deficiency in factor VIII (FVIII), is the most severe inherited bleeding disorder. Hemophilia A is an attractive gene therapy candidate because even small increases in FVIII levels will positively alter the phenotype. While several vectors are under investigation, gene addition from an integr...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1038/mtm.2014.42

    authors： Staber JM,Pollpeter MJ,Arensdorf A,Sinn PL,Rutkowski DT,McCray PB Jr

    更新日期：2014-09-10 00:00:00

  • AAV8 Gene Therapy for Crigler-Najjar Syndrome in Macaques Elicited Transgene T Cell Responses That Are Resident to the Liver.

    abstract：:Systemic delivery of adeno-associated viral (AAV) vectors has been evaluated for the treatment of several liver diseases, including homozygous familial hypercholesterolemia, ornithine transcarbamylase deficiency, and hemophilia. Here, we evaluated this approach for the treatment of Crigler-Najjar syndrome. We administ...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2018.10.012

    authors： Greig JA,Calcedo R,Kuri-Cervantes L,Nordin JML,Albrecht J,Bote E,Goode T,Chroscinski EA,Bell P,Richman LK,Betts MR,Wilson JM

    更新日期：2018-12-05 00:00:00

  • Human Umbilical Tissue-Derived Cells Secrete Soluble VEGFR1 and Inhibit Choroidal Neovascularization.

    abstract：:Exudative age-related macular degeneration (AMD), characterized by choroidal neovascularization (CNV), is the leading cause of irreversible blindness in developed countries. Anti-vascular endothelial growth factor (VEGF) drugs are the standard treatment for AMD, but they have limitations. Cell therapy is a promising a...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2019.05.007

    authors： Cao J,Yang R,Smith TE,Evans S,McCollum GW,Pomerantz SC,Petley T,Harris IR,Penn JS

    更新日期：2019-05-22 00:00:00

  • Single AAV-Mediated CRISPR-SaCas9 Inhibits HSV-1 Replication by Editing ICP4 in Trigeminal Ganglion Neurons.

    abstract：:Herpes simplex keratitis (HSK) is the most common cause of corneal blindness in developed nations, caused by primary or recurrent herpes simplex virus 1 (HSV-1) infection of the cornea. Latent infection of HSV-1, especially in the trigeminal ganglion (TG), causes recurrence of HSV-1 infection. As antiviral treatment i...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2020.05.011

    authors： Chen Y,Zhi S,Liang P,Zheng Q,Liu M,Zhao Q,Ren J,Cui J,Huang J,Liu Y,Songyang Z

    更新日期：2020-05-22 00:00:00

  • Syngeneic AAV Pseudo-particles Potentiate Gene Transduction of AAV Vectors.

    abstract：:Adeno-associated virus (AAV) vectors have emerged as a safe and efficient gene therapy platform. One complication is that a significant amount of empty particles have always been generated as impurities during AAV vector production. However, the effects of such particles on AAV vector performance remain unclear. Here ...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2016.12.004

    authors： Wang Q,Dong B,Pokiniewski KA,Firrman J,Wu Z,Chin MP,Chen X,Liu L,Xu R,Diao Y,Xiao W

    更新日期：2016-12-24 00:00:00

  • Toward a Rapid Production of Multivirus-Specific T Cells Targeting BKV, Adenovirus, CMV, and EBV from Umbilical Cord Blood.

    abstract：:Umbilical cord blood (CB) has emerged as an effective alternative donor source for hematopoietic stem cell transplantation. Despite this success, the prolonged duration of immune suppression following CB transplantation and the naiveté of CB T cells leave patients susceptible to viral infections. Adoptive transfer of ...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2017.02.001

    authors： Dave H,Luo M,Blaney JW,Patel S,Barese C,Cruz CR,Shpall EJ,Bollard CM,Hanley PJ

    更新日期：2017-03-08 00:00:00

  • Quantitative, noninvasive, in vivo longitudinal monitoring of gene expression in the brain by co-AAV transduction with a PET reporter gene.

    abstract：:In vivo imaging of vector transgene expression would be particularly valuable for repetitive monitoring of therapy in the brain, where invasive tissue sampling is contraindicated. We evaluated adeno-associated virus vector expression of a dopamine-2 receptor (D2R) mutant (D2R80A) by positron emission tomography in the...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1038/mtm.2014.16

    authors： Yoon SY,Gay-Antaki C,Ponde DE,Poptani H,Vite CH,Wolfe JH

    更新日期：2014-06-04 00:00:00

  • RD-MolPack technology for the constitutive production of self-inactivating lentiviral vectors pseudotyped with the nontoxic RD114-TR envelope.

    abstract：:To date, gene therapy with transiently derived lentivectors has been very successful to cure rare infant genetic diseases. However, transient manufacturing is unfeasible to treat adult malignancies because large vector lots are required. By contrast, stable manufacturing is the best option for high-incidence diseases ...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1038/mtm.2016.33

    authors： Marin V,Stornaiuolo A,Piovan C,Corna S,Bossi S,Pema M,Giuliani E,Scavullo C,Zucchelli E,Bordignon C,Rizzardi GP,Bovolenta C

    更新日期：2016-05-11 00:00:00

  • A Robust System for Production of Superabundant VP1 Recombinant AAV Vectors.

    abstract：:Recombinant adeno-associated viral (rAAV) vectors have been widely used in human gene therapy. One major impediment to its broad application is the inability to produce high-quality vectors in mass quantity. Here, an efficient and scalable suspension cell culture system for the production of rAAV vectors is described....

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2017.11.002

    authors： Wang Q,Wu Z,Zhang J,Firrman J,Wei H,Zhuang Z,Liu L,Miao L,Hu Y,Li D,Diao Y,Xiao W

    更新日期：2017-11-07 00:00:00

  • Transient Chimeric Ad5/37 Fiber Enhances NK-92 Carrier Cell-Mediated Delivery of Oncolytic Adenovirus Type 5 to Tumor Cells.

    abstract：:Methods for customizing and improving virus vector tropism are limited. In this study, we introduce a microRNA (miRNA)-regulated molecular method to enhance vector transduction without genome alteration. Based on the importance of adenovirus (Ad) vectors for cancer and gene treatment, we exemplified this technology fo...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2020.06.010

    authors： Gao J,Zhang W,Mese K,Bunz O,Lu F,Ehrhardt A

    更新日期：2020-06-18 00:00:00

  • Analyzing the Genotoxicity of Retroviral Vectors in Hematopoietic Cell Gene Therapy.

    abstract：:Retroviral vectors, including those derived from gammaretroviruses and lentiviruses, have found their way into the clinical arena and demonstrated remarkable efficacy for the treatment of immunodeficiencies, leukodystrophies, and globinopathies. Despite these successes, gene therapy unfortunately also has had to face ...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章,评审

    doi：10.1016/j.omtm.2017.10.002

    authors： Biasco L,Rothe M,Büning H,Schambach A

    更新日期：2017-10-05 00:00:00

  • Genetic Engineering and Manufacturing of Hematopoietic Stem Cells.

    abstract：:The marketing approval of genetically engineered hematopoietic stem cells (HSCs) as the first-line therapy for the treatment of severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) is a tribute to the substantial progress that has been made regarding HSC engineering in the past decade. Rep...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章,评审

    doi：10.1016/j.omtm.2017.03.003

    authors： Wang X,Rivière I

    更新日期：2017-03-18 00:00:00

  • Liposome Lipid-Based Formulation Has the Least Influence on rAAV Transduction Compared to Other Transfection Agents.

    abstract：:Recombinant adeno-associated virus (rAAV) vectors are considered ideal vehicles for human gene therapy. Meanwhile, non-viral strategies, such as transfection agents (TAs), have also shown promise to deliver genetic materials, such as siRNA. Transduction with the rAAV vector is performed concurrently with transfection ...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2018.04.004

    authors： Guo P,Yu C,Wang Q,Zhang R,Meng X,Feng Y

    更新日期：2018-04-12 00:00:00

  • Preclinical Development of a Lentiviral Vector for Gene Therapy of X-Linked Severe Combined Immunodeficiency.

    abstract：:X-linked severe combined immunodeficiency (SCID-X1) is caused by mutations in the interleukin-2 receptor γ chain gene (IL2RG), and it is characterized by profound defects in T, B, and natural killer (NK) cell functions. Transplantation of hematopoietic stem/progenitor cells (HSPCs) genetically corrected with early mur...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2018.03.002

    authors： Poletti V,Charrier S,Corre G,Gjata B,Vignaud A,Zhang F,Rothe M,Schambach A,Gaspar HB,Thrasher AJ,Mavilio F

    更新日期：2018-03-10 00:00:00

  • Generation and in vivo evaluation of IL10-treated dendritic cells in a nonhuman primate model of AAV-based gene transfer.

    abstract：:Preventing untoward immune responses against a specific antigen is a major challenge in different clinical settings such as gene therapy, transplantation, or autoimmunity. Following intramuscular delivery of recombinant adeno-associated virus (rAAV)-derived vectors, transgene rejection can be a roadblock to successful...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1038/mtm.2014.28

    authors： Moreau A,Vandamme C,Segovia M,Devaux M,Guilbaud M,Tilly G,Jaulin N,Le Duff J,Cherel Y,Deschamps JY,Anegon I,Moullier P,Cuturi MC,Adjali O

    更新日期：2014-07-23 00:00:00

  • Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin.

    abstract：:LAMA2-related muscular dystrophy (LAMA2 MD) is the most common and fatal form of early-onset congenital muscular dystrophies. Due to the large size of the laminin α2 cDNA and heterotrimeric structure of the protein, it is challenging to develop a gene-replacement therapy. Our group has developed a novel adeno-associat...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2018.01.005

    authors： Qiao C,Dai Y,Nikolova VD,Jin Q,Li J,Xiao B,Li J,Moy SS,Xiao X

    更新日期：2018-01-31 00:00:00

  • A qPCR Method for AAV Genome Titer with ddPCR-Level of Accuracy and Precision.

    abstract：:Recombinant adeno-associated virus (rAAV) is one of the main vectors used in gene therapy. An accurate genome titer is not only critical for clinical dosing, but also a prerequisite for many analytical assays for AAV product characterization. AAV genome titer is traditionally determined by qPCR; however, assay precisi...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2020.09.017

    authors： Wang Y,Menon N,Shen S,Feschenko M,Bergelson S

    更新日期：2020-10-01 00:00:00

  • ALPPL2 Is a Potential Diagnostic Biomarker for Pancreatic Cancer-Derived Extracellular Vesicles.

    abstract：:Pancreatic cancer is an aggressive malignancy that often goes undiagnosed in the early stages. Non-invasive, early, and accurate diagnosis is therefore undoubtedly the "holy grail" of pancreatic cancer research. However, despite extensive research efforts, there is no definitive biomarker for this cancer. Previously, ...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2019.08.016

    authors： Shin HS,Jung SB,Park S,Dua P,Lee DK

    更新日期：2019-09-12 00:00:00

  • Laboratory-Scale Lentiviral Vector Production and Purification for Enhanced Ex Vivo and In Vivo Genetic Engineering.

    abstract：:Lentiviral vectors (LVs) are increasingly employed in gene and cell therapy. Standard laboratory production of LVs is not easily scalable, and research-grade LVs often contain contaminants that can interfere with downstream applications. Moreover, purified LV production pipelines have been developed mainly for costly,...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2020.10.009

    authors： Soldi M,Sergi Sergi L,Unali G,Kerzel T,Cuccovillo I,Capasso P,Annoni A,Biffi M,Rancoita PMV,Cantore A,Lombardo A,Naldini L,Squadrito ML,Kajaste-Rudnitski A

    更新日期：2020-10-20 00:00:00

  • Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease.

    abstract：:Pompe disease is an autosomal recessive lysosomal storage disorder characterized by progressive muscle weakness. The disease is caused by mutations in the acid α-glucosidase (GAA) gene. Despite the currently available enzyme replacement therapy (ERT), roughly half of the infants with Pompe disease die before the age o...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2020.04.023

    authors： Stok M,de Boer H,Huston MW,Jacobs EH,Roovers O,Visser TP,Jahr H,Duncker DJ,van Deel ED,Reuser AJJ,van Til NP,Wagemaker G

    更新日期：2020-05-04 00:00:00

  • rAAVrh74.MCK.GALGT2 Demonstrates Safety and Widespread Muscle Glycosylation after Intravenous Delivery in C57BL/6J Mice.

    abstract：:rAAVrh74.MCK.GALGT2 is a surrogate gene therapy that inhibits muscular dystrophy in multiple animal models. Here, we report on a dose-response study of functional muscle GALGT2 expression as well as toxicity and biodistribution studies after systemic intravenous (i.v.) delivery of rAAVrh74.MCK.GALGT2. A dose of 4.3 × ...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2019.10.005

    authors： Zygmunt DA,Xu R,Jia Y,Ashbrook A,Menke C,Shao G,Yoon JH,Hamilton S,Pisharath H,Bolon B,Martin PT

    更新日期：2019-10-21 00:00:00

  • Plastin 3 Promotes Motor Neuron Axonal Growth and Extends Survival in a Mouse Model of Spinal Muscular Atrophy.

    abstract：:Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease. SMA is caused by mutations in the survival motor neuron gene (SMN1), leading to reduced levels of SMN protein in the CNS. The actin-binding protein plastin 3 (PLS3) has been reported as a modifier for SMA, making it a potential therapeutic ...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2018.01.007

    authors： Alrafiah A,Karyka E,Coldicott I,Iremonger K,Lewis KE,Ning K,Azzouz M

    更新日期：2018-01-31 00:00:00

  • Defining the Optimal FVIII Transgene for Placental Cell-Based Gene Therapy to Treat Hemophilia A.

    abstract：:The delivery of factor VIII (FVIII) through gene and/or cellular platforms has emerged as a promising hemophilia A treatment. Herein, we investigated the suitability of human placental cells (PLCs) as delivery vehicles for FVIII and determined an optimal FVIII transgene to produce/secrete therapeutic FVIII levels from...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2020.03.001

    authors： El-Akabawy N,Rodriguez M,Ramamurthy R,Rabah A,Trevisan B,Morsi A,George S,Shields J,Meares D,Farland A,Atala A,Doering CB,Spencer HT,Porada CD,Almeida-Porada G

    更新日期：2020-03-14 00:00:00

  • Partial Reconstruction of the Nigrostriatal Circuit along a Preformed Molecular Guidance Pathway.

    abstract：:The overall goal of our research is to establish a preformed molecular guidance pathway to direct the growth of dopaminergic axons from embryonic ventral mesencephalon (VM), tissue placed within the substantia nigra (SN), into the striatum to reconstruct the nigrostriatal pathway in a hemi-Parkinson's disease rat mode...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1016/j.omtm.2019.06.008

    authors： Ghosh B,Zhang C,Ziemba KS,Fletcher AM,Yurek DM,Smith GM

    更新日期：2019-07-11 00:00:00

  • Treatment of hypophosphatasia by muscle-directed expression of bone-targeted alkaline phosphatase via self-complementary AAV8 vector.

    abstract：:Hypophosphatasia (HPP) is an inherited disease caused by genetic mutations in the gene encoding tissue-nonspecific alkaline phosphatase (TNALP). This results in defects in bone and tooth mineralization. We recently demonstrated that TNALP-deficient (Akp2 (-/-) ) mice, which mimic the phenotype of the severe infantile ...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1038/mtm.2015.59

    authors： Nakamura-Takahashi A,Miyake K,Watanabe A,Hirai Y,Iijima O,Miyake N,Adachi K,Nitahara-Kasahara Y,Kinoshita H,Noguchi T,Abe S,Narisawa S,Millán JL,Shimada T,Okada T

    更新日期：2016-02-03 00:00:00

  • Membrane-stabilizing copolymers confer marked protection to dystrophic skeletal muscle in vivo.

    abstract：:Duchenne muscular dystrophy (DMD) is a fatal disease of striated muscle deterioration. A unique therapeutic approach for DMD is the use of synthetic membrane stabilizers to protect the fragile dystrophic sarcolemma against contraction-induced mechanical stress. Block copolymer-based membrane stabilizer poloxamer 188 (...

    journal_title：Molecular therapy. Methods & clinical development

    pub_type： 杂志文章

    doi：10.1038/mtm.2015.42

    authors： Houang EM,Haman KJ,Filareto A,Perlingeiro RC,Bates FS,Lowe DA,Metzger JM

    更新日期：2015-11-11 00:00:00