Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island
Tài liệu tham khảo
Enaud, 2014, Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?, Orphanet J. Rare Dis., 9, 85, 10.1186/1750-1172-9-85
de Blic, 2004, Pulmonary alveolar proteinosis in children, Paediatr. Respir. Rev., 5, 316, 10.1016/j.prrv.2004.07.001
Mahut, 1996, Pulmonary alveolar proteinosis: experience with eight pediatric cases and a review, Pediatrics, 97, 117
Uchida, 2007, GM-CSF autoantibodies and neutrophil dysfunction in pulmonary alveolar proteinosis, N. Engl. J. Med., 356, 567, 10.1056/NEJMoa062505
Stanley, 1994, Granulocyte/macrophage colony-stimulating factor-deficient mice show no major perturbation of hematopoiesis but develop a characteristic pulmonary pathology, Proc. Natl. Acad. Sci. USA, 91, 5592, 10.1073/pnas.91.12.5592
Dirksen, 1997, Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression, J. Clin. Invest., 100, 2211, 10.1172/JCI119758
Trapnell, 2003, Pulmonary alveolar proteinosis, N. Engl. J. Med., 349, 2527, 10.1056/NEJMra023226
Martinez-Moczygemba, 2008, Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1, J. Exp. Med., 205, 2711, 10.1084/jem.20080759
Halioui-Louhaïchi, 2005, [Pulmonary alveolar proteinosis in two siblings. A case report], Tunis. Med., 83, 488
Nakanishi, 2005, Structural basis for anticodon recognition by methionyl-tRNA synthetase, Nat. Struct. Mol. Biol., 12, 931, 10.1038/nsmb988
Mechulam, 1999, Crystal structure of Escherichia coli methionyl-tRNA synthetase highlights species-specific features, J. Mol. Biol., 294, 1287, 10.1006/jmbi.1999.3339
Schmitt, 1994, Methionyl-tRNA synthetase needs an intact and mobile 332KMSKS336 motif in catalysis of methionyl adenylate formation, J. Mol. Biol., 242, 566, 10.1006/jmbi.1994.1601
Casina, 2011, Role for a conserved structural motif in assembly of a class I aminoacyl-tRNA synthetase active site, Biochemistry, 50, 763, 10.1021/bi101375d
Bonneaud, 1991, A family of low and high copy replicative, integrative and single-stranded S. cerevisiae/E. coli shuttle vectors, Yeast, 7, 609, 10.1002/yea.320070609
Wach, 1994, New heterologous modules for classical or PCR-based gene disruptions in Saccharomyces cerevisiae, Yeast, 10, 1793, 10.1002/yea.320101310
Ho, 1989, Site-directed mutagenesis by overlap extension using the polymerase chain reaction, Gene, 77, 51, 10.1016/0378-1119(89)90358-2
Baruffini, 2010, In vivo analysis of mtDNA replication defects in yeast, Methods, 51, 426, 10.1016/j.ymeth.2010.02.023
Wallen, 2013, To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations, Curr. Opin. Genet. Dev., 23, 302, 10.1016/j.gde.2013.02.002
van Meel, 2013, Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype, BMC Med. Genet., 14, 106, 10.1186/1471-2350-14-106
Gonzalez, 2013, Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2, J. Neurol. Neurosurg. Psychiatry, 84, 1247, 10.1136/jnnp-2013-305049
Novarino, 2014, Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders, Science, 343, 506, 10.1126/science.1247363
Diodato, 2014, VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies, Hum. Mutat., 35, 983, 10.1002/humu.22590