Search results for "LIOP"

SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes

2021

Abstract Splicing is catalyzed by the spliceosome, a compositionally dynamic complex assembled stepwise on pre-mRNA. We reveal links between splicing machinery components and the intrinsically disordered ciliopathy protein SANS. Pathogenic mutations in SANS/USH1G lead to Usher syndrome—the most common cause of deaf-blindness. Previously, SANS was shown to function only in the cytosol and primary cilia. Here, we have uncovered molecular links between SANS and pre-mRNA splicing catalyzed by the spliceosome in the nucleus. We show that SANS is found in Cajal bodies and nuclear speckles, where it interacts with components of spliceosomal sub-complexes such as SF3B1 and the large splicing cofact…

CiliaCarta: An integrated and validated compendium of ciliary genes

2019

The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliary components remain undiscovered. We generated and rigorously analyzed genomic, proteomic, transcriptomic and evolutionary data and systematically integrated these using Bayesian statistics into a predictive score for ciliary function. This resulted in 285 candidate ciliary genes. We generated independent experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins using multiple cell and animal model systems (mouse…

Assessing agency of university students: validation of the AUS Scale

2016

Fostering agency as a core component of professionalism is seen as a critical task of higher education. However, the tools for assessing university students’ agency, and the pedagogical and relational resources needed for its development, are lacking. The present study describes the theoretical foundations and factor structure of the newly developed Agency of University Students (AUS) Scale, which assesses students’ course-specific agency. In the factor analysis, ten factors emerged. Four of these – Interest and motivation, Self-efficacy, Competence beliefs and Participation activity – are seen to represent individual resources of agency. The other four factors – Equal treatment, Teacher su…

Back to work! : työ ja työelämän tutkimus kutsuvat vapaajakson jälkeen

2019

Ihmistieteellinen kriisi-diagnoosi

2016

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

2015

Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms. Truncating KIAA0586 mutations were identified in two additional patients with JBTS. One mutation, c.428delG (p.Arg143Lysfs*4), is unexpectedly common in the general population and may be a major contributor to JBTS. We demonstrate KIAA0586 protein localization at the basal body in human and mouse p…

Activity of laccase on unbleached and bleached thermomechanical pulp

2003

The introduction of value-added properties to pulp fibres is an attractive proposition. One interesting option is targeted modification of fibre surfaces by enzymatic activation. In this work, the activity of laccase on pulp and pulp fractions from thermomechanical pulp (TMP) and peroxide bleached TMP was studied on the basis of consumption of the co-substrate oxygen in the reaction and by studying the formation of radicals in the pulp material as analysed by electron paramagnetic resonance spectroscopy (EPR). Laccases obtained from Trametes hirsuta and Myceliophthora thermophila were used in the study. Laccases were found to be active on pulp material of unbleached TMP, whereas only fines …

Molecular cloning and functional bacterial expression of a plant glucosidase specifically involved in alkaloid biosynthesis.

2000

Monoterpenoid indole alkaloids are a vast and structurally complex group of plant secondary compounds. In contrast to other groups of plant products which produce many glycosides, indole alkaloids rarely occur as glucosides. Plants of Rauvolfia serpentina accumulate ajmaline as a major alkaloid, whereas cell suspension cultures of Rauvolfia mainly accumulate the glucoalkaloid raucaffricine at levels of 1.6 g/l. Cell cultures do contain a specific glucosidase. known as raucaffricine-O-beta-D-glucosidase (RG), which catalyzes the in vitro formation of vomilenine, a direct intermediate in ajmaline biosynthesis. Here, we describe the molecular cloning and functional expression of this enzyme in…

University as a workplace: searching for meaningful work

2018

Work in academia is changing, and research suggests that not all the changes are desirable. Higher education is developing in a direction heavily criticized, especially in relation to the concepts of neoliberal and academic capitalism. In this article, we explore meaningful work in a university context. Our focus lies on individual lecturers’ positive opportunities to make work meaningful and the university a better place to work for both students and faculty. We examine meaningful work as a relational phenomenon: how meaningfulness is constructed through features such as dialogue, expertise, interaction and sharing of ideas. Our empirical findings are based on analysis of qualitative and q…

Primary Cilium Mediated Retinal Pigment Epithelium Maturation is Retarded in Ciliopathy Patient Cells

2018

Primary cilia are sensory organelles that protrude from the cell membrane. Cilia defects cause ciliopathy disorders with retinal degeneration as a prominent phenotype. Here, we demonstrate that the retinal pigment epithelium (RPE), essential for photoreceptor development and function, requires a functional primary cilium for complete maturation, and RPE maturation defects in ciliopathies precede photoreceptor development. Pharmacologically enhanced ciliogenesis in wildtype induced pluripotent stem cells (iPSCs)-RPE leads to fully-mature and functional cells. Whereas, ciliopathy patient-derived iPSCs-RPE and wildtype iPSC-RPE with a knockdown of ciliary-trafficking protein remain immature, w…