Skip to main content
Advertisement
  • Other Publications
    • EMBO Press
    • EMBO Molecular Medicine (Home)
    • The EMBO Journal
    • EMBO reports
    • Molecular Systems Biology
    • Life Science Alliance
Login

   

Search

Advanced Search

Journal

  • Home
  • Latest Online
  • Current Issue
  • Archive
  • Article Collections
  • Subject Collections

Authors & Referees

  • Submit
  • Author Guidelines
  • Aims & Scope
  • Editors & Board
  • Transparent Process
  • Referee Guidelines
  • Bibliometrics
  • Open Access

Info

  • E-Mail Editorial Office
  • Alerts
  • RSS Feeds
  • Reprints & Permissions
  • Advertise & Sponsor
  • Media Partners
  • News & Press
  • Customer Service
  • About
  • Archive
  • Author Guidelines
  • Submit
  • E-alert

Advanced Search

  • The role of the microbiome in NAFLD and NASH

    Review

    AA Kolodziejczyk, E Elinav and colleagues

    This review explores the impact that the gut microbiota may have on the development and progression of nonalcoholic liver diseases (i.e. NAFLD and NASH), and exposes the unexplored factors related to potential microbiome contributions to this common disorder.

  • Modulation of three key innate immune pathways for the most common retinal degenerative diseases

    Review

    Isha Akhtar‐Schäfer, Thomas Langmann and colleagues

    This is a comprehensive review of a range of mechanisms involved in common retinal degenerative disorders, providing hints into therapeutic approaches through targeting the immune system.

  • Reprogramming of basic metabolic pathways in microbial sepsis: therapeutic targets at last?

    Review

    L. Van Wyngene, J. Vandewalle & C. Libert

    In this review, Van Wingene, Vandewalle and Libert concentrate on the pathological changes in metabolism observed during sepsis, and the presumed underlying mechanisms.

  • Latest Online
  • Current Issue
  • Most Read
Loading
  • Open Access
    Report
    MET mutation causes muscular dysplasia and arthrogryposis
    <em>MET</em> mutation causes muscular dysplasia and arthrogryposis
    1. Hang Zhou1,2,3,4,†,
    2. Chengjie Lian1,2,3,4,†,
    3. Tingting Wang1,
    4. Xiaoming Yang1,
    5. Caixia Xu5,
    6. Deying Su1,
    7. Shuhui Zheng5,
    8. Xiangyu Huang6,
    9. Zhiheng Liao1,
    10. Taifeng Zhou1,
    11. Xianjian Qiu7,
    12. Yuyu Chen1,
    13. Bo Gao7,
    14. Yongyong Li5,
    15. Xudong Wang7,
    16. Guoling You8,
    17. Qihua Fu8,
    18. Christina Gurnett9,10,11,
    19. Dongsheng Huang7 and
    20. Peiqiang Su (supq{at}mail.sysu.edu.cn)*,1,2,3,4,12
    1. 1Department of Orthopaedic Surgery, First Affiliated Hospital, Sun Yat‐sen University, Guangzhou, Guangdong, China
    2. 2Guangdong Provincial Key Laboratory of Orthopedics and Traumatology, First Affiliated Hospital, Sun Yat‐sen University, Guangzhou, Guangdong, China
    3. 3Guangdong Province Center for Peripheral Nerve Tissue Engineering and Technology Research, Guangzhou, Guangdong, China
    4. 4Guangdong Province Engineering Laboratory for Soft Tissue Biofabrication, Guangzhou, Guangdong, China
    5. 5Research Centre for Translational Medicine, First Affiliated Hospital, Sun Yat‐sen University, Guangzhou, Guangdong, China
    6. 6Department of Stomatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China
    7. 7Department of Spine Surgery, Sun Yat‐sen Memorial Hospital, Sun Yat‐sen University, Guangzhou, Guangdong, China
    8. 8Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    9. 9Department of Orthopaedic Surgery, Washington University, St. Louis, MO, USA
    10. 10Department of Neurology, Washington University, St. Louis, MO, USA
    11. 11Department of Pediatrics, Washington University, St. Louis, MO, USA
    12. 12Present Address: Department of Orthopaedic Surgery, First Affiliated Hospital, Sun Yat‐sen University, Guangzhou, Guangdong, China
    1. ↵*Corresponding author. Tel: +862087755766 6236; E‐mail: supq{at}mail.sysu.edu.cn
    1. ↵† These authors contributed equally to this work

    In this study, MET was identified as a causative gene for arthrogryposis, characterized by congenital contractures of two or more parts of the body. The mutant MET p.Y1234C impaired activation of MET tyrosine kinase, resulting in muscular dysplasia of the limbs.

    Synopsis

    In this study, MET was identified as a causative gene for arthrogryposis, characterized by congenital contractures of two or more parts of the body. The mutant MET p.Y1234C impaired activation of MET tyrosine kinase, resulting in muscular dysplasia of the limbs.

    • MET p.Y1234C mutation was identified in a four‐generation arthrogryposis pedigree.

    • Muscular dysplasia of the upper arms and hands was observed in the arthrogryposis patients.

    • In vitro, MET p.Y1234C was responsible for the failure in MET tyrosine kinase activation.

    • In vivo, Met p.Y1232C led to defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts.

    • arthrogryposis
    • MET
    • muscle development
    • muscular dysplasia
    • whole‐exome sequence

    EMBO Mol Med (2019) e9709

    • Received August 21, 2018.
    • Revision received January 28, 2019.
    • Accepted January 29, 2019.
    • © 2019 The Authors. Published under the terms of the CC BY 4.0 license

    This is an open access article under the terms of the Creative Commons Attribution 4.0 License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

    Hang Zhou, Chengjie Lian, Tingting Wang, Xiaoming Yang, Caixia Xu, Deying Su, Shuhui Zheng, Xiangyu Huang, Zhiheng Liao, Taifeng Zhou, Xianjian Qiu, Yuyu Chen, Bo Gao, Yongyong Li, Xudong Wang, Guoling You, Qihua Fu, Christina Gurnett, Dongsheng Huang, Peiqiang Su
    Published online 18.02.2019
    • Genetics, Gene Therapy & Genetic Disease
    • Musculoskeletal System
  • Open Access
    Opinion
    Innovation and competition in advanced therapy medicinal products
    Innovation and competition in advanced therapy medicinal products
    1. Enrique Seoane‐Vazquez (seoanevazquez{at}chapman.edu)1,
    2. Vaishali Shukla2 and
    3. Rosa Rodriguez‐Monguio3
    1. 1Chapman University School of Pharmacy, Irvine, CA, USA
    2. 2Chapman University School of Pharmacy, Irvine, CA, USA
    3. 3Director of the Medication Outcomes Center, School of Pharmacy, University of California, San Francisco, CA, USA

    Advanced therapy medicinal products (ATMPs), including gene therapy, cell therapy and tissue engineering products, represent a paradigm shift in health care, but they are expensive. E. Seoane‐Vazquez, V. Shukla and R. Rodriguez‐Monguio discuss ATMPs prospects for the generics market.

    EMBO Mol Med (2019) e9992

    • © 2019 The Authors. Published under the terms of the CC BY 4.0 license

    This is an open access article under the terms of the Creative Commons Attribution 4.0 License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

    Enrique Seoane‐Vazquez, Vaishali Shukla, Rosa Rodriguez‐Monguio
    Published online 15.02.2019
    • Genetics, Gene Therapy & Genetic Disease
    • Stem Cells
  • Open Access
    Research Article
    Targeting miR‐34a/Pdgfra interactions partially corrects alveologenesis in experimental bronchopulmonary dysplasia
    Targeting miR‐34a/<em>Pdgfra</em> interactions partially corrects alveologenesis in experimental bronchopulmonary dysplasia
    1. Jordi Ruiz‐Camp1,2,
    2. Jennifer Quantius2,
    3. Ettore Lignelli1,2,
    4. Philipp F Arndt2,
    5. Francesco Palumbo1,2,
    6. Claudio Nardiello1,2,
    7. David E Surate Solaligue1,2,
    8. Elpidoforos Sakkas1,2,4,
    9. Ivana Mižíková1,2,5,
    10. José Alberto Rodríguez‐Castillo1,2,
    11. István Vadász2,
    12. William D Richardson3,
    13. Katrin Ahlbrecht1,2,
    14. Susanne Herold2,
    15. Werner Seeger1,2 and
    16. Rory E Morty (rory.morty{at}mpi-bn.mpg.de)*,1,2
    1. 1Department of Lung Development and Remodelling, Max Planck Institute for Heart and Lung Research, Member of the German Center for Lung Research (DZL), Bad Nauheim, Germany
    2. 2Department of Internal Medicine (Pulmonology), University of Giessen and Marburg Lung Center (UGMLC), Member of the German Center for Lung Research (DZL), Giessen, Germany
    3. 3Wolfson Institute for Biomedical Research, University College London, London, UK
    4. 4Present Address: Department of Clinical Genomics, SciLifeLab, Stockholm, Sweden
    5. 5Present Address: Regenerative Medicine Program, Sinclair Centre for Regenerative Medicine, Ottawa Hospital Research Institute, Ottawa, ON, Canada
    1. ↵*Corresponding author. Tel: +49 6032 705 271; Fax: +49 6032 705 471; E‐mail: rory.morty{at}mpi-bn.mpg.de

    The pathogenic mechanisms underlying stunted lung development associated with bronchopulmonary dysplasia (BPD) are unknown. In this study, the interaction between miR 34a and the Pdgfra 3′‐UTR was validated as both a causal factor and a potentially “druggable” target in BPD driven by oxygen toxicity.

    Synopsis

    The pathogenic mechanisms underlying stunted lung development associated with bronchopulmonary dysplasia (BPD) are unknown. In this study, the interaction between miR 34a and the Pdgfra 3′‐UTR was validated as both a causal factor and a potentially “druggable” target in BPD driven by oxygen toxicity.

    • miR‐34a expression was increased by elevated oxygen levels in PDGFRα+ cells.

    • PDGFRα expression was negatively regulated by miR‐34a in vitro and in vivo.

    • Lung development was protected by genetic ablation of miR‐34a expression in PDGFRα+ cells in vivo.

    • PDGFRα+ cell abundance was partially restored by neutralization of miR‐34a using LNA antimiRs in developing lungs.

    • Disrupting the miR‐34a/Pdgfra mRNA interaction revealed a new pathogenic pathway that could be pharmacologically manipulated.

    • bronchopulmonary dysplasia
    • hyperoxia
    • lung development
    • miR‐34a
    • platelet‐derived growth factor

    EMBO Mol Med (2019) e9448

    • Received June 16, 2018.
    • Revision received January 19, 2019.
    • Accepted January 22, 2019.
    • © 2019 The Authors. Published under the terms of the CC BY 4.0 license

    This is an open access article under the terms of the Creative Commons Attribution 4.0 License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

    Jordi Ruiz‐Camp, Jennifer Quantius, Ettore Lignelli, Philipp F Arndt, Francesco Palumbo, Claudio Nardiello, David E Surate Solaligue, Elpidoforos Sakkas, Ivana Mižíková, José Alberto Rodríguez‐Castillo, István Vadász, William D Richardson, Katrin Ahlbrecht, Susanne Herold, Werner Seeger, Rory E Morty
    Published online 15.02.2019
    • Respiratory System
  • Open Access
    Louis‐Jeantet Prize Winner: Review
    Genetic engineering of hematopoiesis: current stage of clinical translation and future perspectives
    Genetic engineering of hematopoiesis: current stage of clinical translation and future perspectives
    1. Luigi Naldini (naldini.luigi{at}hsr.it)*,1
    1. 1San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Hospital and Research Institute, “Vita ‐ Salute San Raffaele” University Medical School, Milan, Italy
    1. ↵*Corresponding author. Tel: +39 02 2643 4682; E‐mail: naldini.luigi{at}hsr.it

    The 2019 Louis‐Jeantet Prize for Medicine winner Luigi Naldini offers here a very comprehensive and interesting review on gene therapy in general and hematopoietic stem cell gene therapy in particular, with a specific emphasis on clinical applications.

    • gene editing
    • gene therapy
    • hematopoietic stem cells
    • lentiviral vectors
    • transplantation

    EMBO Mol Med (2019) e9958

    • Received January 2, 2019.
    • Revision received January 3, 2019.
    • Accepted January 7, 2019.
    • © 2019 The Author. Published under the terms of the CC BY 4.0 license

    This is an open access article under the terms of the Creative Commons Attribution 4.0 License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

    Luigi Naldini
    Published online 22.01.2019
    • Genetics, Gene Therapy & Genetic Disease
    • Haematology
    • Stem Cells
  • Open Access
    Louis‐Jeantet Prize Winner: Review
    The first steps in vision: cell types, circuits, and repair
    The first steps in vision: cell types, circuits, and repair
    1. Botond Roska (botond.roska{at}iob.ch)1,2,3
    1. 1Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland
    2. 2University of Basel, Basel, Switzerland
    3. 3Friedrich Miescher Institute, Basel, Switzerland

    The 2019 Louis‐Jeantet Prize for Medicine winner Botond Roska provides a motivating account of his work on the basic principles of visual information processing, leading to the development of therapeutic strategies for retinal disorders.

    • cell type‐specific gene therapy
    • FRMD7
    • neuronal circuits
    • retinal disorders
    • vision

    EMBO Mol Med (2019) e10218

    • Received December 17, 2018.
    • Revision received January 2, 2019.
    • Accepted January 3, 2019.
    • © 2019 The Author. Published under the terms of the CC BY 4.0 license

    This is an open access article under the terms of the Creative Commons Attribution 4.0 License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

    Botond Roska
    Published online 22.01.2019
    • Neuroscience
All recent articles
Back to top


SmartFigures

Meet the Editors

Editor conference calendar

Subject areas

  • Ageing (12)
  • Biomarkers & Diagnostic Imaging (58)
  • Cancer (359)
  • Cardiovascular System (124)
  • Chromatin, Epigenetics, Genomics & Functional Genomics (75)
  • Development & Differentiation (23)
  • Digestive System (75)
  • Genetics, Gene Therapy & Genetic Disease (322)
  • Haematology (39)
  • Immunology (217)
  • Metabolism (190)
  • Microbiology, Virology & Host Pathogen Interaction (123)
  • Musculoskeletal System (46)
  • Neuroscience (314)
  • Pharmacology & Drug Discovery (208)
  • Post-translational Modifications, Proteolysis & Proteomics (19)
  • Regenerative Medicine (32)
  • Respiratory System (41)
  • Skin (49)
  • Stem Cells (84)
  • Systems Medicine (27)
  • Urogenital System (67)
  • Vascular Biology & Angiogenesis (85)
Advertisement

Journal

  • Latest Online
  • Current Issue
  • Archive
  • Focus Pages
  • Bibliometrics
  • E-Mail Editorial Office
  • Privacy Policy

Authors & References

  • Aims & Scope
  • Editors & Board
  • Transparent Process
  • Author Guidelines
  • Referee Guidelines
  • Open Access
  • Submit

Info

  • Alerts
  • RSS Feeds
  • Reprints & Permissions
  • Advertise & Sponsor
  • News & Press
  • Customer Service

EMBO

  • Funding & Awards
  • Events
  • Science Policy
  • Members
  • About EMBO

Online ISSN  1757-4684

Copyright© 2019 EMBO

This website is best viewed using the latest versions of all modern web browsers. Older browsers may not display correctly.