Molecular pathophysiology of human MICU1 deficiency-Reference-Cited by-同舟云学术

Molecular pathophysiology of human MICU1 deficiency

Published:2021-02-22 Issue:6 Volume:47 Page:840-855
ISSN:0305-1846
Container-title:Neuropathology and Applied Neurobiology
language:en
Short-container-title:Neuropathol Appl Neurobiol

Author:

Kohlschmidt Nicolai¹,Elbracht Miriam²,Czech Artur³,Häusler Martin⁴,Phan Vietxuan³,Töpf Ana⁵,Huang Kai‐Ting⁶,Bartok Adam⁶^ORCID,Eggermann Katja²,Zippel Stephanie⁷,Eggermann Thomas²,Freier Erik³^ORCID,Groß Claudia¹,Lochmüller Hanns⁸⁹¹⁰¹¹,Horvath Rita¹²,Hajnóczky György⁶,Weis Joachim¹³,Roos Andreas¹⁴^ORCID

Affiliation:

1. Institute of Clinical Genetics and Tumour Genetics Bonn Germany

2. Institute of Human Genetics RWTH Aachen University Hospital Aachen Germany

3. Leibniz‐Institut für Analytische Wissenschaften ‐ ISAS ‐ e.V Dortmund Germany

4. Division of Neuropediatrics and Social Pediatrics Department of Pediatrics RWTH Aachen University Hospital Aachen Germany

5. Institute of Genetic Medicine International Centre for Life, Central Parkway Newcastle upon Tyne UK

6. MitoCare Center Department of Pathology, Anatomy and Cell Biology Thomas Jefferson University Philadelphia PA USA

7. Centre for Social Pediatrics Mechernich Mechernich Germany

8. Department of Neuropediatrics and Muscle Disorders Medical Center ‐ University of Freiburg Faculty of Medicine Freiburg Germany

9. Centro Nacional de Análisis Genómico Center for Genomic Regulation Barcelona Institute of Science and Technology Barcelona Spain

10. Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa ON Canada

11. Division of Neurology Department of Medicine The Ottawa Hospital Ottawa Ontario Canada

12. Department of Clinical Neuroscience University of Cambridge Cambridge UK

13. Institute of Neuropathology RWTH Aachen University Hospital Aachen Germany

14. Department of Neuropediatrics Centre for Neuromuscular Disorders in Children University Hospital Essen University of Duisburg‐Essen Essen Germany

Funder

Wellcome Trust

Medical Research Council

European Regional Development Fund

Center for Scientific Review

European Research Council

Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen

Newton Fund

Bundesministerium für Bildung und Forschung

French Muscular Dystrophy Association

Publisher

Wiley

Subject

Physiology (medical),Clinical Neurology,Neurology,Histology,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12694

Reference56 articles.

1. Mitochondrial Dysfunction in Neurodegenerative Diseases

2. MICU1 Controls Both the Threshold and Cooperative Activation of the Mitochondrial Ca2+ Uniporter

3. MICU1 Is an Essential Gatekeeper for MCU-Mediated Mitochondrial Ca2+ Uptake that Regulates Cell Survival

4. MICU1 encodes a mitochondrial EF hand protein required for Ca2+ uptake

5. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

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