Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration-Reference-Cited by-同舟云学术

Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration

Published:2018-11-12 Issue:23 Volume:37 Page:
ISSN:0261-4189
Container-title:The EMBO Journal
language:en
Short-container-title:EMBO J

Author:

Shashi Vandana¹,Magiera Maria M²³^ORCID,Klein Dennis⁴,Zaki Maha⁵,Schoch Kelly¹,Rudnik‐Schöneborn Sabine⁶,Norman Andrew⁷,Lopes Abath Neto Osorio⁸,Dusl Marina⁹,Yuan Xidi⁴,Bartesaghi Luca¹⁰,De Marco Patrizia¹¹,Alfares Ahmed A¹²,Marom Ronit¹³¹⁴,Arold Stefan T¹⁵^ORCID,Guzmán‐Vega Francisco J¹⁵,Pena Loren DM¹⁶¹⁷,Smith Edward C¹⁸,Steinlin Maja¹⁹,Babiker Mohamed OE²⁰,Mohassel Payam⁸,Foley A Reghan⁸,Donkervoort Sandra⁸,Kaur Rupleen⁸,Ghosh Partha S²¹,Stanley Valentina²²,Musaev Damir²²,Nava Caroline²³²⁴,Mignot Cyril²³²⁴,Keren Boris²³²⁴,Scala Marcello¹¹,Tassano Elisa¹¹,Picco Paolo¹¹,Doneda Paola²⁵,Fiorillo Chiara¹¹²⁶,Issa Mahmoud Y⁵,Alassiri Ali²⁷^ORCID,Alahmad Ahmed²⁷,Gerard Amanda¹³¹⁴,Liu Pengfei¹³²⁸,Yang Yaping¹³²⁸,Ertl‐Wagner Birgit²⁹,Kranz Peter G³⁰^ORCID,Wentzensen Ingrid M³¹,Stucka Rolf⁹,Stong Nicholas³²,Allen Andrew S³³³⁴,Goldstein David B³²,Schoser Benedikt⁹,Rösler Kai M³⁵,Alfadhel Majid³⁶,Capra Valeria¹¹,Chrast Roman¹⁰,Strom Tim M³⁷³⁸,Kamsteeg Erik‐Jan³⁹,Bönnemann Carsten G⁸,Gleeson Joseph G²²,Martini Rudolf⁴,Janke Carsten²³^ORCID,Senderek Jan⁹^ORCID,

Affiliation:

1. Division of Medical Genetics Department of Pediatrics Duke University Medical Center Durham NC USA

2. Institut Curie CNRS UMR3348 PSL Research University Orsay France

3. CNRS UMR3348 Université Paris Sud, Université Paris‐Saclay Orsay France

4. Department of Neurology Developmental Neurobiology University Hospital Würzburg Würzburg Germany

5. Clinical Genetics Department Human Genetics and Genome Research Division National Research Centre Cairo Egypt

6. Division of Human Genetics Medical University Innsbruck Innsbruck Austria

7. Department of Clinical Genetics St. Michael's Hospital University Hospitals Bristol NHS Foundation Trust Bristol UK

8. Neuromuscular and Neurogenetic Disorders of Childhood Section Neurogenetics Branch National Institute of Neurological Disorders and Stroke, NIH Bethesda MD USA

9. Friedrich Baur Institute at the Department of Neurology Friedrich Baur Institute University Hospital LMU Munich Munich Germany

10. Department of Neuroscience and Department of Clinical Neuroscience Karolinska Institutet Stockholm Sweden

11. IRCCS Istituto Giannina Gaslini Genova Italy

12. Department of Pediatrics College of Medicine Qassim University Qassim Saudi Arabia

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

14. Texas Children's Hospital Houston TX USA

15. Division of Biological and Environmental Sciences and Engineering (BESE) Computational Bioscience Research Center (CBRC) King Abdullah University of Science and Technology (KAUST) Thuwal Saudi Arabia

16. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati OH USA

17. Department of Pediatrics University of Cincinnati College of Medicine Cincinnati OH USA

18. Division of Neurology Department of Pediatrics Duke University Medical Center Durham NC USA

19. Division of Neuropaediatrics Development and Rehabilitation University Children's Hospital, Inselspital University of Bern Bern Switzerland

20. Neurosciences Centre Al Jalila Children's Hospital Dubai UAE

21. Department of Neurology Boston Children's Hospital Boston MA USA

22. Laboratory for Pediatric Brain Disease Howard Hughes Medical Institute University of California San Diego CA USA

23. Department of Genetics Assistance Publique des Hôpitaux de Paris Hôpital Pitié‐Salpêtrière Paris France

24. Institut du Cerveau et de la Moelle épinière Sorbonne Universités Inserm U1127, CNRS, UMR 7225 UPMC Univ Paris 06 Paris France

25. Grande Ospedale Metropolitano Niguarda Milano Italy

26. Università degli Studi di Genova Genova Italy

27. Department of Pathology and Laboratory Medicine King Abdulaziz Medical City Riyadh Saudi Arabia

28. Baylor Genetics Houston TX USA

29. Department of Diagnostic Imaging The Hospital for Sick Children University of Toronto Toronto ON Canada

30. Division of Neuroradiology Department of Radiology Duke University Medical Center Durham NC USA

31. GeneDx Gaithersburg MD USA

32. Institute of Genomic Medicine Columbia University New York NY USA

33. Center for Statistical Genetics and Genomics Duke University Medical Center Durham NC USA

34. Department of Biostatistics and Bioinformatics Duke University Durham NC USA

35. Neuromuscular Centre University Department of Neurology Inselspital Bern Switzerland

36. Genetics Division Department of Pediatrics King Saud bin Abdulaziz University for Health Sciences King Abdulaziz Medical City Riyadh Saudi Arabia

37. Institute of Human Genetics Helmholtz Zentrum München Neuherberg Germany

38. Institute of Human Genetics Technische Universität München Munich Germany

39. Department of Human Genetics Donders Centre for Brain Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands

Funder

European Molecular Biology Organization

National Institutes of Health

Agence Nationale de la Recherche

Institut Curie

Institut National Du Cancer

Friedrich-Baur-Stiftung

Fritz Thyssen Stiftung

Osteogenesis Imperfecta Foundation

Bundesministerium für Bildung und Forschung

King Abdullah University of Science and Technology

National Institute of Neurological Disorders and Stroke

National Human Genome Research Institute

Publisher

EMBO

Subject

General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,Molecular Biology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.15252/embj.2018100540

Reference50 articles.

1. Estimation of nuclear population from microtome sections

2. A method and server for predicting damaging missense mutations

3. Evidence for new C-terminally truncated variants of α- and β-tubulins

4. Cytosolic Carboxypeptidase 1 Is Involved in Processing α- and β-Tubulin

5. Identifying Mendelian disease genes with the Variant Effect Scoring Tool

Cited by 85 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity;Human Molecular Genetics;2024-01-31

2. Current Technologies Unraveling the Significance of Post-Translational Modifications (PTMs) as Crucial Players in Neurodegeneration;Biomolecules;2024-01-16

3. The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy;Molecular Neurobiology;2023-12-28

4. Deleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects;Journal of Cellular and Molecular Medicine;2023-11-08

5. The Tubulin Code, from Molecules to Health and Disease;Annual Review of Cell and Developmental Biology;2023-10-16