Results 1 to 10 of about 6,880,999 (291)

H3.3K27M mutant proteins reprogram epigenome by sequestering the PRC2 complex to poised enhancers. [PDF]

Elife, 2018
Expression of histone H3.3K27M mutant proteins in human diffuse intrinsic pontine glioma (DIPG) results in a global reduction of tri-methylation of H3K27 (H3K27me3), and paradoxically, H3K27me3 peaks remain at hundreds of genomic loci, a dichotomous ...
Fang D, Gan H, Cheng L, Lee JH, Zhou H, Sarkaria JN, Daniels DJ, Zhang Z.   +7 more
europepmc   +2 more sources

ALS mutant FUS proteins are recruited into stress granules in induced pluripotent stem cell-derived motoneurons [PDF]

Disease Models & Mechanisms, 2015
Patient-derived induced pluripotent stem cells (iPSCs) provide an opportunity to study human diseases mainly in those cases for which no suitable model systems are available.
J. Lenzi, R. De Santis, Valeria de Turris, M. Morlando, Pietro Laneve, A. Calvo, V. Caliendo, A. Chiò, A. Rosa, I. Bozzoni   +9 more
semanticscholar   +2 more sources

Methionine Mistranslation Bypasses the Restraint of the Genetic Code to Generate Mutant Proteins with Distinct Activities. [PDF]

PLoS Genet, 2015
Although mistranslation is commonly believed to be deleterious, recent evidence indicates that mistranslation can be actively regulated and be beneficial in stress response.
Wang X, Pan T.
europepmc   +2 more sources

Nonsense mediated decay resistant mutations are a source of expressed mutant proteins in colon cancer cell lines with microsatellite instability.

PLoS ONE, 2010
BackgroundFrameshift mutations in microsatellite instability high (MSI-High) colorectal cancers are a potential source of targetable neo-antigens. Many nonsense transcripts are subject to rapid degradation due to nonsense-mediated decay (NMD), but ...
David S Williams, Matthew J Bird, Robert N Jorissen, Yen Lin Yu, Francesca Walker, Hui Hua Zhang, Edouard C Nice, Antony W Burgess   +7 more
doaj   +2 more sources

New therapeutic strategies to treat human cancers expressing mutant p53 proteins

Journal of Experimental & Clinical Cancer Research, 2018
The tumor suppressor p53 plays a critical role to preserve DNA fidelity from diverse insults through the regulation of cell-cycle checkpoints, DNA repair, senescence and apoptosis. The TP53 is the most frequently inactivated gene in human cancers.
Giovanni Blandino, Silvia Di Agostino
doaj   +2 more sources

Impact of HLD6-associated TUBB4A mutant proteins on cell morphogenesis [PDF]

BMC Research Notes
Oligodendroglial cells are a type of glial cell in the central nervous system (CNS) that surround neuronal axons with a specialized cell membrane called the myelin sheath.
Yuki Kasamatsu, Mei Tanaka, Minori Minegishi, Yuki Miyamoto, Junji Yamauchi   +4 more
doaj   +2 more sources

Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome [PDF]

The FEBS Journal, 2012
M. Tada, S. Itoh, A. Ishii-Watabe, Takuo Suzuki, N. Kawasaki   +4 more
semanticscholar   +2 more sources

Expression, purification and characterization of cellobiose dehydrogenase mutants from Phanerochaete chrysosporium in Pichia pastoris KM71H strain [PDF]

Journal of the Serbian Chemical Society, 2020
Production of soluble cellobiose dehydrogenase (CDH) mutant proteins previously evolved on the surface of S. cerevisiae yeast cells was established for use in biosensors and biofuel cells.
Balaž Ana Marija J., Blažić Marija B., Popović Nikolina, Prodanović Olivera L., Ostafe Raluca V., Fischer Rainer, Prodanović Radivoje M.   +6 more
doaj   +1 more source

Macroautophagy and Mitophagy in Neurodegenerative Disorders: Focus on Therapeutic Interventions

Biomedicines, 2021
Macroautophagy, a quality control mechanism, is an evolutionarily conserved pathway of lysosomal degradation of protein aggregates, pathogens, and damaged organelles.
João Duarte Magalhães, Lígia Fão, Rita Vilaça, Sandra Morais Cardoso, Ana Cristina Rego   +4 more
doaj   +1 more source

Proteomics Investigation of the Time Course Responses of RAW264.7 Macrophages to Infections With the Wild-Type and Twin-Arginine Translocation Mutant Strains of Brucella melitensis

Frontiers in Cellular and Infection Microbiology, 2021
Brucella, a notorious intracellular pathogen, causes chronic infections in many mammals, including humans. The twin-arginine translocation (Tat) pathway transports folded proteins across the cytoplasmic membrane; protein substrates translocated by ...
Xin Yan, Sen Hu, Yan Yang, Da Xu, Wenxing Liu, Ganwu Li, Ganwu Li, Wentong Cai, Wentong Cai, Zhigao Bu, Zhigao Bu   +10 more
doaj   +1 more source