换一批COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.
第一作者：
Micol,Falabella
第一单位：
Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK. m.falabella@ucl.ac.uk.
作者：
Micol,Falabella [1]
;
Sandra,Lopez Calcerrada [2]
;
Jana,Aref [3]
;
Jiaze,Gao [3]
;
William L,Macken [4]
;
Chiara,Pizzamiglio [4]
;
Renata,Kabiljo [3]
;
Anna Lucia,Francavilla [5]
;
Pauline,Gaignard [6]
;
Antoine,Pouzet [7]
;
Jonathan,Levy [7]
;
Giulia,Barcia [8]
;
Jamie K,Leighton [9]
;
Efstathia,Chronopoulou [10]
;
Germaine,Pierre [10]
;
Riza,Köksal Özgül [11]
;
Ali,Dursun [11]
;
Rebecca,Halligan [12]
;
Helen,Mundy [12]
;
Javeria,Raza Alvi [13]
;
Tipu,Sultan [13]
;
William James,Craigen [14]
;
Lisa,Emrick [14]
;
Jill A,Rosenfeld [15]
;
Gehad,Elmakkawy [16]
;
JiHye,Kim [17]
;
Joseph J,Gleeson [18]
;
Aboulfazl,Rad [19]
;
Gabriela,Oprea [20]
;
Maqbool,Hussain [21]
;
Khalil Ur,Rehman [22]
;
Sadia,Riaz [23]
;
Robert W,Taylor [24]
;
Vincent,Procaccio [25]
;
Maha S,Zaki [26]
;
Erika,Fernandez-Vizarra [27]
;
Ciro Leonardo,Pierri [5]
;
Michael G,Hanna [4]
;
Henry,Houlden [3]
;
Reza,Maroofian [3]
;
Cristina,Ugalde [28]
;
Jan-Willem,Taanman [29]
;
Robert D S,Pitceathly [30]
作者单位：
Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK. m.falabella@ucl.ac.uk.
[1]
Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.
[2]
Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK.
[3]
Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK.;NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.
[4]
Laboratory of Biochemistry, Structural and Molecular Biology, Department of Pharmacy - Pharmaceutical Sciences, University of Bari "Aldo Moro", Via E, Orabona 4, Bari, Italy.
[5]
Service de Biochimie, CHU Bicêtre, AP-HP, Université Paris-Saclay, Centre de Référence des Maladies Mitochondriales, Filière Filnemus, Le Kremlin-Bicêtre, France.;Laboratoire de Biologie Médicale Multisite SeqOIA-FMG2025, Paris, France.;UMR-S 1180, CARPAT, Inserm/Université Paris-Saclay, Orsay, France.
[6]
Laboratoire de Biologie Médicale Multisite SeqOIA-FMG2025, Paris, France.;Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.
[7]
Service de Médecine Génomique des Maladies Rares, APHP Centre, Hôpital Necker-Enfants Malades, Paris, France.;Université Paris Cité, Imagine Institute, INSERM, Paris, France.
[8]
Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
[9]
Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
[10]
Institute of Child Health, Department of Pediatric Metabolism, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
[11]
Department of Paediatric Inherited Metabolic Diseases, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
[12]
Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore, Pakistan.
[13]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[14]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Baylor Genetics, Houston, TX, USA.
[15]
Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
[16]
3billion Inc., Seoul, South Korea.
[17]
Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.;Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA.
[18]
Arcensus Diagnostics, Rostock, Germany.;Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, Iran.
[19]
Arcensus Diagnostics, Rostock, Germany.
[20]
FCPS Paediatrics, Children Hospital PIMS, Islamabad, Pakistan.
[21]
Town Women and Children Hospital, Peshawar, Pakistan.
[22]
PCPS Paediatrics and Neonatology, Children Hospital PIMS Islamabad, Islamabad, Pakistan.
[23]
Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.;NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
[24]
University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, University Hospital of Angers, Angers, France; Department of Genetics, University Hospital of Angers, Angers, France.
[25]
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
[26]
Department of Biochemistry and Molecular and Cellular Biology, Faculty of Health and Sport Sciences, University of Zaragoza, Huesca, Spain.
[27]
Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.;Centro de Investigaciones Biológicas Margarita Salas (CIB-CSIC), Madrid, Spain.
[28]
Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, UK.
[29]
Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK. r.pitceathly@ucl.ac.uk.;NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. r.pitceathly@ucl.ac.uk.
[30]
DOI
10.1038/s41467-026-73455-9
PMID
42218136
发布时间
2026-05-30
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