A Genome-Scale RNA–Interference Screen Identifies RRAS Signaling as a Pathologic Feature of Huntington’s Disease게놈 규모의 RNA-간섭 스크린은 헌팅턴병의 병리학적 특징으로 RRAS 신호를 식별합니다Research Article Published on 2012-11-292022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] Activation addition Amino acid amino-terminus Analysis Author cascade caused Cell cellular cellular processe cellular processes component disease disorder Drosophila dysfunction effective ENCODE enzyme excitotoxicity farnesyltransferase FNTA found functional Glutamate Glutamine huntingtin Huntington's disease identify implicated in addition to increase in inhibitor Interaction Intervention involved Localization loss-of-function mammalian mechanism mechanisms mitochondrial mitochondrial dysfunction motor dysfunction mouse model mutant Mutation observé occur pathogenic pathway Pathways pharmacological PIN1 PLK1 Protein proteolysis RAF1 reduce reduced reducing repeated RNA interference RRAS Screen Signaling signaling pathway small molecule solubility suppress suppressed suppressor Therapeutic benefit These data Toxicity was performed [DOI] 10.1371/journal.pgen.1003042 PMC 바로가기 [Article Type] Research Article
Reduced Lentivirus Susceptibility in Sheep with TMEM154 MutationsTMEM154 돌연변이가 있는 양의 렌티바이러스 감수성 감소Research Article Published on 2012-01-262022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] 95% CI Affect affecting age allele Analysis analyzed Author biological function Case-control cause caused coding region Cohort disease domain E35 exceeded expressed Extracellular FIVE form forms frameshift full-length genetic risk factor genetic risk factors Genetic variation Genome-wide association study genome-wide significance Genotype Glutamate greater Haplotype haplotypes help homozygous host immune system identify incurable Infected infected case infected cases Infection isoform lentivirus lysine mechanism Missense multi multiple tissues mutant mutant virus Mutation nine odds of infection Older P -value peptide Pneumonia position predicted primates PROTECT Protein Reinfection Relative risk remained repeated respiratory Retroviral infection risk of infection Sanger sequencing sheep signal peptide single SNP susceptible target The United States TMEM154 transmembrane protein uninfected uninfected control United States Variation were used with infection [DOI] 10.1371/journal.pgen.1002467 PMC 바로가기 [Article Type] Research Article