Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.
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| Title: | Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants. |
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| Authors: | Di Zanni E; Consiglio Nazionale delle Ricerche, Istituto di Biofisica (CNR-IBF), Dulbecco Telethon Laboratory, Genoa, Italy., Palagano E; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan, Italy.; Humanitas Clinical and Research Center, Rozzano, Italy., Lagostena L; Consiglio Nazionale delle Ricerche, Istituto di Biofisica (CNR-IBF), Dulbecco Telethon Laboratory, Genoa, Italy., Strina D; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan, Italy.; Humanitas Clinical and Research Center, Rozzano, Italy., Rehman A; UMB Department of Biochemistry and Molecular Biology, University of Maryland, Baltimore, MD, USA., Abinun M; Department of Pediatric Immunology, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., De Somer L; Department of Pediatric Rheumatology, University Hospital Leuven, Leuven, Belgium., Martire B; Pediatric Unit, 'Monsignor Dimiccoli' Hospital, Barletta, Italy., Brown J; Department of Pediatrics, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Australia.; Department of Pediatric Endocrinology and Diabetes, Monash Children's Hospital, Monash Health, Clayton, Australia., Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran., Balasubramaniam S; Department of Metabolic Medicine and Rheumatology, Perth Children's Hospital, Perth, Australia., Baynam G; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia.; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Telethon Kids Institute and Division of Pediatrics, School of Health and Medical Sciences, University of Western Australia, Perth, Australia.; Faculty of Medicine, Notre Dame University, Fremantle, Australia., Gurrieri F; Genetica Medica, Università Campus Bio-Medico, Rome, Italy., Pisanti MA; Medical Genetics Unit, 'Antonio Cardarelli' Hospital, Naples, Italy., De Maggio I; Medical Genetics Unit, 'Antonio Cardarelli' Hospital, Naples, Italy., Abboud MR; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Chiesa R; Bone Marrow Transplantation Department, Great Ormond Street Hospital for Children, London, UK., Burren CP; Department of Pediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Bristol Medical School, Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK., Villa A; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan, Italy.; San Raffaele Telethon Institute for Gene Therapy SR-Tiget, IRCCS San Raffaele Scientific Institute, Milan, Italy., Sobacchi C; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan, Italy.; Humanitas Clinical and Research Center, Rozzano, Italy., Picollo A; Consiglio Nazionale delle Ricerche, Istituto di Biofisica (CNR-IBF), Dulbecco Telethon Laboratory, Genoa, Italy. |
| Source: | Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2021 Mar; Vol. 36 (3), pp. 531-545. Date of Electronic Publication: 2020 Nov 29. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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