Identification of Intronic Variants in <i>NDUFA3</i> as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing
Year: 2025
Type: article
Language: en
Topic: Mitochondrial Function and Pathology
Authors and affiliations:
raw_author_name: Kohta Nakamura
raw_affiliation_strings: Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan;
Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan
raw_author_name: Yoshihito Kishita
raw_affiliation_strings: Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan;
Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan;
Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan
Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan
raw_author_name: Ayumu Sugiura
raw_affiliation_strings: Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan;
Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan
raw_author_name: Kokoro Ozaki
raw_affiliation_strings: Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan;
Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan;
Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan
Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan
raw_author_name: Yukiko Yatsuka
raw_affiliation_strings: Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan;
Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan
raw_author_name: Naoyuki Matsumoto
raw_affiliation_strings: Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan;
Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan
raw_author_name: Atsuko Okazaki
raw_affiliation_strings: Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan;
Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan
raw_author_name: Holger Prokisch
raw_affiliation_strings: Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany;
School of Medicine, Institute of Human Genetics, Technical University of Munich, Germany;
Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany
School of Medicine, Institute of Human Genetics, Technical University of Munich, Germany
raw_author_name: Koichi Maruyama
raw_affiliation_strings: Department of Pediatric Neurology, Aichi Developmental Disability Center Central Hospital, Aichi, Japan;
Department of Pediatric Neurology, Aichi Developmental Disability Center Central Hospital, Aichi, Japan
raw_author_name: Hiroyasu Iwasa
raw_affiliation_strings: Department of General Medicine, Aichi Developmental Disability Center Central Hospital, Aichi, Japan;
Department of General Medicine, Aichi Developmental Disability Center Central Hospital, Aichi, Japan
raw_author_name: Kei Murayama
raw_affiliation_strings: Department of Metabolism, Chiba Children's Hospital, Chiba, Japan;
Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan;
Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan
Department of Metabolism, Chiba Children's Hospital, Chiba, Japan
raw_author_name: Hiroshi Matsumoto
raw_affiliation_strings: Department of Pediatrics, Saitama Medical University, Saitama, Japan;
Department of Pediatrics, Saitama Medical University, Saitama, Japan
raw_author_name: Akira Ohtake
raw_affiliation_strings: Department of Clinical Genomics, Saitama Medical University, Saitama, Japan; and
Department of Pediatrics, Saitama Medical University, Saitama, Japan;
Department of Pediatrics, Saitama Medical University, Saitama, Japan
raw_author_name: Yuichi Shiraishi
raw_affiliation_strings: Division of Genome Analysis Platform Development, National Cancer Center Research Institute, Tokyo, Japan
raw_author_name: Yasushi Okazaki
raw_affiliation_strings: Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan;
Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan;
Diagnostics and Therapeutics of Intractable Disease, Juntendo University, Tokyo, Japan
Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan