Cancer-causing BRCA2 missense mutations disrupt an intracellular protein assembly mechanism to disable genome maintenance
نویسندگان
چکیده
منابع مشابه
Genetic diagnosis of cancer: diagnosis of mutations in BRCA1 and BRCA2 in breast cancer
During the last two decays the tremendous success in molecular biology and genetics which has surprised the entire world. So that today the sequencing of whole genome has been possible for each human individual to estimate its being affected with cardiovascular and cancer diseases. However, these achievements have some important limitations and deep ethical issues which might be ignored. Geneti...
متن کاملStructural and functional analyses of disease-causing missense mutations in Bloom syndrome protein
Bloom syndrome (BS) is an autosomal recessive disorder characterized by genomic instability and the early development of many types of cancer. Missense mutations have been identified in the BLM gene (encoding a RecQ helicase) in affected individuals, but the molecular mechanism and the structural basis of the effects of these mutations remain to be elucidated. We analysed five disease-causing m...
متن کاملDisease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein.
PHEX is homologous to the M13 zinc metallopeptidases, a class of type II membrane glycoproteins. Although more than 140 mutations in the PHEX gene have been identified in patients with X-linked hypophosphatemia (XLH), the most prevalent form of inherited rickets, the molecular consequences of disease-causing PHEX mutations have not yet been investigated. We examined the effect of PHEX missense ...
متن کاملParkinson-causing α-synuclein missense mutations shift native tetramers to monomers as a mechanism for disease initiation
Citation Dettmer, Ulf, Andrew J. Newman, Frank Soldner, Eric S. Luth, Nora C. Kim, Victoria E. von Saucken, John B. Sanderson, Rudolf Jaenisch, Tim Bartels, and Dennis Selkoe. 2015. “Parkinson-causing α-synuclein missense mutations shift native tetramers to monomers as a mechanism for disease initiation.” Nature Communications 6 (1): 7314. doi:10.1038/ncomms8314. http://dx.doi.org/10.1038/ncomm...
متن کاملParkinson-causing a-synuclein missense mutations shift native tetramers to monomers as a mechanism for disease initiation
b-Sheet-rich a-synuclein (aS) aggregates characterize Parkinson’s disease (PD). aS was long believed to be a natively unfolded monomer, but recent work suggests it also occurs in a-helix-rich tetramers. Crosslinking traps principally tetrameric aS in intact normal neurons, but not after cell lysis, suggesting a dynamic equilibrium. Here we show that freshly biopsied normal human brain contains ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 2021
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/gkab308