Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC ‐7 Mutants

Author:

Di Zanni Eleonora1,Palagano Eleonora23,Lagostena Laura1,Strina Dario23,Rehman Asma4,Abinun Mario56,De Somer Lien7,Martire Baldassarre8,Brown Justin910,Kariminejad Ariana11,Balasubramaniam Shanti12,Baynam Gareth13141516,Gurrieri Fiorella17,Pisanti Maria A18,De Maggio Ilaria18,Abboud Miguel R19,Chiesa Robert20,Burren Christine P2122,Villa Anna223,Sobacchi Cristina23ORCID,Picollo Alessandra1ORCID

Affiliation:

1. Consiglio Nazionale delle Ricerche, Istituto di Biofisica (CNR‐IBF) Dulbecco Telethon Laboratory Genoa Italy

2. Consiglio Nazionale delle Ricerche‐Istituto di Ricerca Genetica e Biomedica (CNR‐IRGB) Milan Italy

3. Humanitas Clinical and Research Center Rozzano Italy

4. UMB Department of Biochemistry and Molecular Biology University of Maryland Baltimore MD USA

5. Department of Pediatric Immunology, Great North Children's Hospital Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

6. Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University Newcastle upon Tyne UK

7. Department of Pediatric Rheumatology University Hospital Leuven Leuven Belgium

8. Pediatric Unit, “Monsignor Dimiccoli” Hospital Barletta Italy

9. Department of Pediatrics, Faculty of Medicine, Nursing and Health Sciences Monash University Clayton Australia

10. Department of Pediatric Endocrinology and Diabetes Monash Children's Hospital, Monash Health Clayton Australia

11. Kariminejad‐Najmabadi Pathology and Genetics Center Tehran Iran

12. Department of Metabolic Medicine and Rheumatology Perth Children's Hospital Perth Australia

13. Western Australian Register of Developmental Anomalies King Edward Memorial Hospital Subiaco Australia

14. Genetic Services of Western Australia King Edward Memorial Hospital Perth Australia

15. Telethon Kids Institute and Division of Pediatrics, School of Health and Medical Sciences University of Western Australia Perth Australia

16. Faculty of Medicine Notre Dame University Fremantle Australia

17. Genetica Medica Università Campus Bio‐Medico Rome Italy

18. Medical Genetics Unit “Antonio Cardarelli” Hospital Naples Italy

19. Department of Pediatrics and Adolescent Medicine American University of Beirut Medical Center Beirut Lebanon

20. Bone Marrow Transplantation Department Great Ormond Street Hospital for Children London UK

21. Department of Pediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children University Hospitals Bristol and Weston NHS Foundation Trust Bristol UK

22. Bristol Medical School, Translational Health Sciences, Bristol Medical School University of Bristol Bristol UK

23. San Raffaele Telethon Institute for Gene Therapy SR‐Tiget IRCCS San Raffaele Scientific Institute Milan Italy

Funder

Fondazione Telethon

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

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