A homozygous splice variant in <scp> <i>ATP5PO</i> </scp> , disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families-Reference-Cited by-同舟云学术

A homozygous splice variant in ATP5PO , disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Published:2022-07-11 Issue: Volume: Page:
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Ganapathi Mythily¹^ORCID,Friocourt Gaelle²,Gueguen Naig³,Friederich Marisa W.⁴⁵,Le Gac Gerald²⁶,Okur Volkan⁷^ORCID,Loaëc Nadège²,Ludwig Thomas²⁶,Ka Chandran²⁶,Tanji Kurenai¹,Marcorelles Pascale⁸,Theodorou Evangelos⁹¹⁰,Lignelli‐Dipple Angela¹¹,Voisset Cécile²,Walker Melissa A.¹²,Briere Lauren C.⁹,Bourhis Amélie⁸,Blondel Marc²,LeDuc Charles⁷^ORCID,Hagen Jacob¹³,Cooper Cathleen¹¹,Muraresku Colleen¹⁴¹⁵,Ferec Claude²,Garenne Armelle¹⁶,Lelez‐Soquet Servane¹⁷,Rogers Cassandra A.⁹,Shen Yufeng¹³,Strode Dana K.⁴,Bizargity Peyman¹⁸¹⁹,Iglesias Alejandro⁷,Goldstein Amy¹⁴¹⁵,High Frances A.¹⁰,Network Undiagnosed Diseases²⁰,Sweetser David A.⁹¹⁰,Ganetzky Rebecca¹⁴¹⁵^ORCID,Van Hove Johan L. K.⁴⁵,Procaccio Vincent³,Le Marechal Cedric²⁶,Chung Wendy K.⁷²¹^ORCID

Affiliation:

1. Department of Pathology & Cell Biology Columbia University Irving Medical Center New York New York USA

2. Univ Brest, Inserm, EFS, UMR1078 France

3. MitoLab, UMR CNRS 6015 ‐ INSERM U1083, MitoVasc Institute, Angers University Hospital Angers France

4. Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Aurora Colorado USA

5. Department of Pathology and Laboratory Medicine Children's Hospital Colorado Aurora Colorado USA

6. CHRU de Brest, Service de Génétique Médicale et Biologie de la Reproduction, Laboratoire de Génétique Moléculaire et Histocompatibilité France

7. Department of Pediatrics Columbia University Irving Medical Center New York New York USA

8. CHRU de Brest, Service d'anatomie cytologie pathologie, CHU et centre de référence des maladies neuromusculaires Brest France

9. Center for Genomic Medicine Massachusetts General Hospital Boston Massachusetts USA

10. Division of Medical Genetics & Metabolism, Department of Pediatrics Massachusetts General Hospital Boston Massachusetts USA

11. Department of Radiology Columbia University Irving Medical Center New York New York USA

12. Division of Neurogenetics, Child Neurology, Department of Neurology Massachusetts General Hospital Boston Massachusetts USA

13. Department of Biomedical Sciences Columbia University Irving Medical Center New York New York USA

14. Department of Pediatrics Perelman School of Medicine Philadelphia Pennsylvania USA

15. Mitochondrial Medicine Frontier Program, Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

16. CHRU de Brest, Service de Pédiatrie France

17. CHRU de Brest, Service de Radiologie France

18. Division of Medical Genetics Cohen Children's Medical Center New York New York USA

19. Donald and Barbara Zucker School of Medicine at Hofstra/Northwell New York New York USA

20. A complete list of the Undiagnosed Diseases Network members appears in the Supplemental Materials

21. Department of Medicine Columbia University Irving Medical Center New York New York USA

Funder

National Institutes of Health

Office of Strategic Coordination

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12526

Reference25 articles.

1. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

2. Mitochondrial Energetics and Therapeutics

3. Permeability transition in human mitochondria persists in the absence of peripheral stalk subunits of ATP synthase

4. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

5. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

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