4.5 Article

Lentiviral gene therapy with IGF2-tagged GAA normalizes the skeletal muscle proteome in murine Pompe disease

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Endocrinology & Metabolism

Transcriptomic characterization of clinical skeletal muscle biopsy from late-onset Pompe patients

Sofia Kinton et al.

Summary: Pompe disease, a rare lysosomal storage disorder, leads to the accumulation of glycogen in cardiac and skeletal muscle. Gene expression analysis of late-onset Pompe disease patients revealed disruptions in lysosomal function and energy metabolism. Treatment with avalglucosidase alfa showed a stabilizing effect on gene expression and enrichment of inflammatory pathways in both late-onset and infantile-onset patients.

MOLECULAR GENETICS AND METABOLISM (2023)

Article Endocrinology & Metabolism

Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism

Rodrigo Canibano-Fraile et al.

Summary: Pompe disease is an inherited metabolic myopathy characterized by lysosomal glycogen accumulation caused by deficiency of acid alpha-glucosidase (GAA). This study found elevated protein levels of enzymes involved in glucose uptake and cytoplasmic glycogen synthesis in skeletal muscle of Pompe disease mice and patients. These metabolic changes occur before muscle wasting and may aggravate the disease phenotype.

JOURNAL OF INHERITED METABOLIC DISEASE (2023)

Article Pediatrics

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

Imke Anise Maartje Ditters et al.

Summary: This study assessed the effect of enzyme replacement therapy (ERT) with alglucosidase alfa on survival and walking ability in patients with classic infantile Pompe disease. The results showed that a high ERT dosage of 40 mg/kg per week significantly improved survival compared to the standard recommended dosage of 20 mg/kg every other week. These findings suggest a need for reconsideration of the currently registered dosage.

LANCET CHILD & ADOLESCENT HEALTH (2022)

Review Biochemistry & Molecular Biology

The Mechanisms of Thin Filament Assembly and Length Regulation in Muscles

Szilard Szikora et al.

Summary: Actin-containing tropomyosin and troponin decorated thin filaments are crucial components of the contractile apparatus in muscles. The optimal length of these filaments is critical for efficient muscle activity and can be regulated by various mechanisms. Mutations affecting these factors can alter thin filament length and are associated with certain diseases.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Article Medicine, Research & Experimental

Lentiviral gene therapy prevents anti-human acid a-glucosidase antibody formation in murine Pompe disease

Qiushi Liang et al.

Summary: This study found that lentiviral gene therapy induced robust and long-term immune tolerance to GAA in a murine model of Pompe disease, whether expressed by a transgene or supplied as ERT. These findings are important for the development of effective treatments for Pompe disease.

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2022)

Article Medicine, Research & Experimental

IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy

Qiushi Liang et al.

Molecular Therapy-Methods & Clinical Development (2022)

Review Biochemistry & Molecular Biology

Lysosomal positioning diseases: beyond substrate storage

Gianluca Scerra et al.

Summary: Lysosomal storage diseases are inherited disorders characterized by the accumulation of undegraded substances, leading to lysosomal dysfunction and damage to multiple organ systems. Recent studies have shown that the accumulation of lysosomal substrates is just the beginning of a cascade of processes that contribute to the progression of these diseases.

OPEN BIOLOGY (2022)

Article Medicine, Research & Experimental

Screening chimeric GAA variants in preclinical study results in hematopoietic stem cell gene therapy candidate vectors for Pompe disease

Yildirim Dogan et al.

Summary: This study demonstrates the potential of using lentiviral HSPC gene therapy with optimized GAA tagged coding sequences to reverse the pathology of Pompe disease in a preclinical mouse model, offering promising candidates for further investigation.

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2022)

Article Biology

Kinetics of phagosome maturation is coupled to their intracellular motility

Yanqi Yu et al.

Summary: Using engineered RotSensors, we discovered that the degradation kinetics of individual phagosomes are not random, but rather linked to their intracellular motion. Faster and more rotational phagosomes are more likely to fuse with lysosomes, resulting in more efficient cargo degradation. This suggests that the motion of phagosomes plays a crucial role in controlling the progression of cargo degradation.

COMMUNICATIONS BIOLOGY (2022)

Article Medicine, Research & Experimental

Annexin-A1 deficiency attenuates stress-induced tumor growth via fatty acid metabolism in mice: an Integrated multiple omits analysis on the stress-microbiome-metabolite-epigenetic-oncology (SMMEO) axis

Jianzhou Cui et al.

Summary: This study found that chronic stress promotes breast tumor growth via a stress-microbiome-metabolite-epigenetic-oncology (SMMEO) axis. Chronic restraint stress alters the microbiome composition and fatty acid metabolism in mice, leading to epigenetic changes in tumors after stress. Significant correlations were identified among microbiome composition, metabolites, and differentially methylated regions in stressed tumors. Silencing Annexin-A1 can inhibit the impact of stress on gut microbiota and fatty acid metabolism, as well as tumor growth.

THERANOSTICS (2022)

Article Cell Biology

Calsequestrin, a key protein in striated muscle health and disease

Daniela Rossi et al.

Summary: Calsequestrin is a key Ca2+ binding protein found in skeletal and cardiac muscle, with two genes, CASQ1 and CASQ2, displaying different patterns of expression and functions. CASQ interacts with triadin and junctin to modulate its Ca2+ binding ability and regulate Ca2+ homeostasis in muscle cells. Mutations in CASQ1 and CASQ2 have been linked to ventricular tachycardia and myopathy, highlighting their importance in health and diseases.

JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY (2021)

Article Endocrinology & Metabolism

Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding

Anna Sidorina et al.

Summary: Pompe disease is caused by deficiency of acid alpha-glucosidase, resulting in glycogen accumulation in lysosomes. Proteomic and lipidomic analysis revealed significant differences and involvement of multiple cellular functions in PD, indicating potential abnormal phospholipid metabolism and GPI-anchor system involvement.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

Article Endocrinology & Metabolism

The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis

Pablo Ranea-Robles et al.

Summary: This study investigated the role of peroxisomal transporter ABCD3 in hepatic lipid homeostasis and DCA metabolism using a CRISPR-Cas9 generated Abcd3 KO mouse model. The findings suggest that dysfunction of ABCD3 leads to DCAs being metabolized by mitochondrial fatty acid beta-oxidation, highlighting the importance of metabolic compartmentalization and communication between peroxisomes and mitochondria. The study provides valuable insights into the consequences of peroxisomal dysfunction for the liver.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

Article Biochemistry & Molecular Biology

Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease

Manuela Moriggi et al.

Summary: Pompe disease caused by mutations in the GAA gene leads to progressive muscle weakness and respiratory failure. Enzyme replacement therapy (ERT) is the only treatment available, but its efficacy is variable. Analysis of proteins in LOPD patients' muscles revealed abnormalities that persisted even after ERT, including issues with metabolism, ER stress, and autophagy imbalance. Additionally, active lysosome biogenesis was found in LOPD patients, suggesting potential molecular targets for improving outcomes.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Cell Biology

Protein profile of fiber types in human skeletal muscle: a single-fiber proteomics study

Marta Murgia et al.

Summary: This study utilized single-fiber proteomics to identify 404 proteins with significant differences among different fiber types, including many specific markers for type 1 or 2X fibers. It also revealed other major patterns of protein distribution and highlighted the selective enrichment of certain proteins in specific fiber types, suggesting potential implications in muscle pathophysiology. Single-fiber proteomics, combined with emerging single-cell proteomics approaches, are crucial for exploring and quantifying muscle cell heterogeneity.

SKELETAL MUSCLE (2021)

Article Biochemistry & Molecular Biology

Targeted Metabolomic Analysis of a Mucopolysaccharidosis IIIB Mouse Model Reveals an Imbalance of Branched-Chain Amino Acid and Fatty Acid Metabolism

Valeria De Pasquale et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Review Oncology

Pompe disease: what are we missing?

Benedikt Schoser

ANNALS OF TRANSLATIONAL MEDICINE (2019)

Article Clinical Neurology

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain

Berendine J. Ebbink et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2018)

Article Cell Biology

The Actin Cytoskeleton and Actin-Based Motility

Tatyana Svitkina

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2018)

Article Genetics & Heredity

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Barry J. Byrne et al.

ORPHANET JOURNAL OF RARE DISEASES (2017)

Article Cell Biology

Autophagy dysregulation in Danon disease

Anna Chiara Nascimbeni et al.

CELL DEATH & DISEASE (2017)

Article Biochemical Research Methods

The Perseus computational platform for comprehensive analysis of (prote)omics data

Stefka Tyanova et al.

NATURE METHODS (2016)

Article Medicine, Research & Experimental

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

Yohei Sato et al.

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2016)

Article Endocrinology & Metabolism

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

Carin M. van Gelder et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2015)

Review Geriatrics & Gerontology

Pompe disease: from pathophysiology to therapy and back again

Jeong-A Lim et al.

FRONTIERS IN AGING NEUROSCIENCE (2014)

Article Medicine, Research & Experimental

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

Carmine Spampanato et al.

EMBO MOLECULAR MEDICINE (2013)

Article Biochemistry & Molecular Biology

Glycosylation-independent Lysosomal Targeting of Acid α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice

John A. Maga et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2013)

Article Endocrinology & Metabolism

Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype

L. E. M. van den Berg et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2013)

Article Multidisciplinary Sciences

Dysregulation of Multiple Facets of Glycogen Metabolism in a Murine Model of Pompe Disease

Kristin M. Taylor et al.

PLOS ONE (2013)

Article Genetics & Heredity

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

Nina Raben et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)

Review Cell Biology

Autophagy in lysosomal storage disorders

Andrew P. Lieberman et al.

AUTOPHAGY (2012)

Article Endocrinology & Metabolism

Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients

A. T. Palermo et al.

MOLECULAR GENETICS AND METABOLISM (2012)

Article Biochemistry & Molecular Biology

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways

Michela Palmieri et al.

HUMAN MOLECULAR GENETICS (2011)

Article Clinical Neurology

A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers

Linda E. M. van den Berg et al.

NEUROMUSCULAR DISORDERS (2011)

Article Biochemistry & Molecular Biology

Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease

Gaelle Douillard-Guilloux et al.

HUMAN MOLECULAR GENETICS (2010)

Article Endocrinology & Metabolism

CRIM-negative infantile Pompe disease: 42-month treatment outcome

Marianne Rohrbach et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

Article Endocrinology & Metabolism

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

Anupam Chakrapani et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

Article Multidisciplinary Sciences

A Gene Network Regulating Lysosomal Biogenesis and Function

Marco Sardiello et al.

SCIENCE (2009)

Review Medicine, General & Internal

Lysosomal storage disease 2 - Pompe's disease

Ans T. van der Ploeg et al.

LANCET (2008)

Article Biotechnology & Applied Microbiology

Neutralizing antibodies to therapeutic enzymes: considerations for testing, prevention and treatment

Jinhai Wang et al.

NATURE BIOTECHNOLOGY (2008)

Article Biochemistry & Molecular Biology

p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy

Serhiy Pankiv et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Article Biochemistry & Molecular Biology

LAMP proteins are required for fusion of lysosomes with phagosomes

Kassidy K. Huynh et al.

EMBO JOURNAL (2007)

Article Medicine, Research & Experimental

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

Beth L. Thurberg et al.

LABORATORY INVESTIGATION (2006)

Article Biotechnology & Applied Microbiology

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

Tokiko Fukuda et al.

MOLECULAR THERAPY (2006)

Review Clinical Neurology

The natural course of non-classic Pompe's disease; a review of 225 published cases

LPF Winkel et al.

JOURNAL OF NEUROLOGY (2005)

Article Nutrition & Dietetics

Regulation of fatty acid transport by fatty acid translocase/CD36

A Bonen et al.

PROCEEDINGS OF THE NUTRITION SOCIETY (2004)

Review Biochemistry & Molecular Biology

Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder

DA Brooks et al.

TRENDS IN MOLECULAR MEDICINE (2003)

Article Biochemistry & Molecular Biology

PANTHER: A library of protein families and subfamilies indexed by function

PD Thomas et al.

GENOME RESEARCH (2003)

Review Biochemistry & Molecular Biology

The role of troponins in muscle contraction

AV Gomes et al.

IUBMB LIFE (2002)

Article Biology

Rho GTPases: molecular switches that control the organization and dynamics of the actin cytoskeleton

A Hall et al.

PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2000)