A POGLUT 1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss-Reference-Cited by-同舟云学术

A POGLUT 1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss

Published:2016-10-10 Issue:11 Volume:8 Page:1289-1309
ISSN:1757-4676
Container-title:EMBO Molecular Medicine
language:en
Short-container-title:EMBO Mol Med

Author:

Servián‐Morilla Emilia¹²,Takeuchi Hideyuki³,Lee Tom V⁴,Clarimon Jordi²⁵,Mavillard Fabiola²⁶,Area‐Gómez Estela⁷,Rivas Eloy⁸,Nieto‐González Jose L²⁶,Rivero Maria C²⁶,Cabrera‐Serrano Macarena¹²,Gómez‐Sánchez Leonardo²⁶,Martínez‐López Jose A²⁶,Estrada Beatriz⁹,Márquez Celedonio¹,Morgado Yolanda¹⁰,Suárez‐Calvet Xavier¹¹¹²,Pita Guillermo¹³,Bigot Anne¹⁴,Gallardo Eduard¹¹¹²,Fernández‐Chacón Rafael²⁶,Hirano Michio⁷,Haltiwanger Robert S³,Jafar‐Nejad Hamed⁴,Paradas Carmen¹²⁷^ORCID

Affiliation:

1. Neuromuscular Disorders Unit Department of Neurology Instituto de Biomedicina de Sevilla Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla Sevilla Spain

2. Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED) Madrid Spain

3. Department of Biochemistry and Cell Biology Stony Brook University Stony Brook NY USA

4. Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA

5. Memory Unit Department of Neurology and Sant Pau Biomedical Research Institute Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain

6. Department of Medical Physiology and Biophysics Instituto de Biomedicina de Sevilla Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla Sevilla Spain

7. Department of Neurology Columbia University Medical Center New York NY USA

8. Department of Pathology Instituto de Biomedicina de Sevilla Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla Sevilla Spain

9. Centro Andaluz de Biología del Desarrollo (CABD) Universidad Pablo Olavide Sevilla Spain

10. Department of Neurology Hospital U. Valme Sevilla Spain

11. Laboratori de Malalties Neuromusculars Institut de Recerca de HSCSP Universitat Autònoma de Barcelona (UAB) Barcelona Spain

12. Centro de Investigación Biomédica en Red sobre Enfermedades Raras (CIBERER) Barcelona Spain

13. Human Genotyping Unit‐CeGen Spanish National Cancer Research Centre Madrid Spain

14. UPMC Univ Paris 06 INSERM UMRS974 CNRS FRE3617 Center for Research in Myology Sorbonne Universités Paris France

Funder

Instituto de Salud Carlos III

Muscular Dystrophy Association

Federación Española de Enfermedades Raras

Matsumae International Foundation

National Institute of General Medical Sciences

National Institutes of Health

National Institute of Neurological Disorders and Stroke

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Agència de Gestió d’Ajuts Universitaris i de Recerca

Publisher

EMBO

Subject

Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.15252/emmm.201505815

Reference80 articles.

1. Rumi Is a CAP10 Domain Glycosyltransferase that Modifies Notch and Is Required for Notch Signaling

2. Dystroglycanopathy muscles lacking functional glycosylation of alpha-dystroglycan retain regeneration capacity

3. Dystroglycan: from biosynthesis to pathogenesis of human disease

4. Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

5. An optimized transgenesis system for Drosophila using germ-line-specific C31 integrases

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