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Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Lee, Richard G; Balasubramaniam, Shanti; Stentenbach, Maike; Kralj, Tom; McCubbin, Tim; Padman, Benjamin; Smith, Janine; Riley, Lisa G; Priyadarshi, Archana; Peng, Liuyu; Nuske, Madison R; Webster, Richard; Peacock, Ken; Roberts, Philip; Stark, Zornitza; Lemire, Gabrielle; Ito, Yoko A; Boycott, Kym M; Geraghty, Michael T; van Klinken, Jan Bert; Ferdinandusse, Sacha; Zhou, Ying; Walsh, Rebecca; Marcellin, Esteban; Thorburn, David R; Rosciolli, Tony; Fletcher, Janice; Rackham, Oliver; Vaz, Frédéric M; Reid, Gavin E; Filipovska, Aleksandra.
Afiliação
  • Lee RG; Telethon Kids Institute, Northern Entrance, Perth Children's Hospital, Nedlands, WA 6009, Australia.
  • Balasubramaniam S; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia.
  • Stentenbach M; ARC Centre of Excellence in Synthetic Biology, Centre for Medical Research, The University of Western Australia, QEII Medical Centre, Nedlands, WA 6009, Australia.
  • Kralj T; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • McCubbin T; Discipline of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia.
  • Padman B; Telethon Kids Institute, Northern Entrance, Perth Children's Hospital, Nedlands, WA 6009, Australia.
  • Smith J; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia.
  • Riley LG; ARC Centre of Excellence in Synthetic Biology, Centre for Medical Research, The University of Western Australia, QEII Medical Centre, Nedlands, WA 6009, Australia.
  • Priyadarshi A; School of Chemistry, The University of Melbourne, Parkville, VIC 3010, Australia.
  • Peng L; Australian Institute for Bioengineering and Nanotechnology, and Queensland Node of Metabolomics Australia,The University of Queensland, St Lucia, QLD 4072, Australia.
  • Nuske MR; Centre for Microscopy, Characterisation and Analysis, The University of WA, Perth, WA 6009, Australia.
  • Webster R; Discipline of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia.
  • Peacock K; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Roberts P; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW 2145, Australia.
  • Stark Z; Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW 2145, Australia.
  • Lemire G; Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW 2145, Australia.
  • Ito YA; Neonatal Intensive Care Unit, Westmead Hospital, Sydney, NSW 2145, Australia.
  • Boycott KM; School of Chemistry, The University of Melbourne, Parkville, VIC 3010, Australia.
  • Geraghty MT; Department of Paediatrics, University of Melbourne, VIC 3052, Australia.
  • van Klinken JB; Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Ferdinandusse S; General Paediatric Medicine, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Zhou Y; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Walsh R; University of Melbourne, Parkville, VIC 3052, Australia.
  • Marcellin E; Australian Genomics, Melbourne, VIC 3052, Australia.
  • Thorburn DR; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia.
  • Rosciolli T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Fletcher J; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Vaz FM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Reid GE; Metabolics and Newborn Screening, Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Filipovska A; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, 1105 AZ Amsterdam, The Netherlands.
Hum Mol Genet ; 31(21): 3597-3612, 2022 10 28.
Article em En | MEDLINE | ID: mdl-35147173
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Doenças Mitocondriais Tipo de estudo: Prognostic_studies Limite: Animals Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Doenças Mitocondriais Tipo de estudo: Prognostic_studies Limite: Animals Idioma: En Ano de publicação: 2022 Tipo de documento: Article