Biallelic mutations in FDXR cause neurodegeneration associated with inflammation
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Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.
The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of DNA damage by homologous recombination (HR). Here we have shown that an RFWD3 mutation within the WD40 domain is connected to the genetic disease Fanconi anemia (FA). An individual presented with congenital abnormalities characteristic of FA. Cells from the patient carrying the compound heterozygous mutation...
متن کاملBiallelic mutations in BRCA1 cause a new Fanconi anemia subtype.
UNLABELLED Deficiency in BRCA-dependent DNA interstrand crosslink (ICL) repair is intimately connected to breast cancer susceptibility and to the rare developmental syndrome Fanconi anemia. Bona fide Fanconi anemia proteins, BRCA2 (FANCD1), PALB2 (FANCN), and BRIP1 (FANCJ), interact with BRCA1 during ICL repair. However, the lack of detailed phenotypic and cellular characterization of a patient...
متن کاملBiallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.
BACKGROUND Cardiomyopathies are usually inherited and predominantly affect adults, but they can also present in childhood. Although our understanding of the molecular basis of pediatric cardiomyopathy has improved, the underlying mechanism remains elusive in a substantial proportion of cases. OBJECTIVES This study aimed to identify new genes involved in pediatric cardiomyopathy. METHODS The...
متن کاملBiallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial matrix and has roles in inflammation and infection processes, mitochondrial ribosome biogenesis, and regulation of apoptosis and nuclear transcrip...
متن کاملBiallelic DICER1 mutations in sporadic pleuropulmonary blastoma Running title Biallelic DICER1 mutations in sporadic PPB
Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan; Laboratory of Sequence Data Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan; Division of Pediatric Hematology and Oncology, Ibaraki Children’s Hospital, Mito, Ibaraki, Japan; Department of Hematology/Oncology, Saitama Children’s Medical Center, Saitama, Saitama,...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2018
ISSN: 1434-5161,1435-232X
DOI: 10.1038/s10038-018-0515-y