Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe
FEBS Open Bio, EarlyView.Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley +1 more source
Conservation Genetics of the Endangered Del Mar Manzanita (Arctostaphylos glandulosasubsp.Crassifolia) Based On Rad Sequencing Data [PDF]
, 2018 Dylan O. Bürge +3 more
openalex +1 more source
The importance of well protected forests for the conservation genetics of West African colobine monkeys. [PDF]
Am J Primatol, 2023 Minhós T +12 more
europepmc +1 more source
DDX3X induces mesenchymal transition of endothelial cells by disrupting BMPR2 signaling
FEBS Open Bio, EarlyView.Elevated DDX3X expression led to downregulation of BMPR2, a key regulator of endothelial homeostasis and function. Our co‐immunoprecipitation assays further demonstrated a molecular interaction between DDX3X and BMPR2. Notably, DDX3X promoted lysosomal degradation of BMPR2, thereby impairing its downstream signaling and facilitating endothelial‐to ...
Yu Zhang +7 more
wiley +1 more source
The Functions of the Multiproduct and Rapidly Evolving \u3cem\u3edec-1\u3c/em\u3e Eggshell Gene Are Conserved Between Evolutionarily Distant Species of Drosophila [PDF]
, 2001 The Drosophila dec-1 gene encodes multiple proteins that are required for female fertility and proper eggshell morphogenesis. Genetic and immunolocalization data suggest that the different DEC-1 proteins are functionally distinct.
Badciong, James Charles +2 more
core +1 more source
Conservation Genetics of the Asian Giant Soft-Shelled Turtle (Pelochelys cantorii) with Novel Microsatellite Multiplexes. [PDF]
Animals (Basel), 2022 Xie M +6 more
europepmc +1 more source
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
FEBS Open Bio, EarlyView.Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Editorial: Population genetics and conservation of aquatic species
Frontiers in Genetics, 2023 Shaokui Yi +3 more
doaj +1 more source
Conservation Genetics of the Critically Endangered Southern River Terrapin (Batagur affinis) in Malaysia: Genetic Diversity and Novel Subspecies Distribution Ranges. [PDF]
Biology (Basel), 2023 Salleh MHM, Esa Y, Pau SN.
europepmc +1 more source
SIRT4 positively regulates autophagy via ULK1, but independently of HDAC6 and OPA1
FEBS Open Bio, EarlyView.Cells expressing SIRT4 (H161Y), a catalytically inactive mutant of the sirtuin SIRT4, fail to upregulate LC3B‐II and exhibit a reduced autophagic flux under stress conditions. Interestingly, SIRT4(H161Y) promotes phosphorylation of ULK1 at S638 and S758 that are associated with inhibition of autophagy initiation.
Isabell Lehmkuhl +13 more
wiley +1 more source