Search results for "LIOP"
showing 10 items of 1268 documents
RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry
2018
Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their proteins remains unclear. Here we show that knockdown (KD) of RPGR, RPGRIP1 or RPGRIP1L in hTERT-RPE1 cells results in abnormal actin cytoskeleton organization. The actin cytoskeleton rearrangement is regulated by the small GTPase RhoA via the planar cell polarity (PCP) pathway. RhoA activity was upregulated in the absence of RPGR, RPGRIP1 or RPGRIP1L proteins. In RPGR, RPGRIP1 or RPGRIP1L KD cells, we observed increased levels of DVl2 and DVl3 pr…
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice
2019
Purpose Bardet-Biedl syndrome (BBS) is an archetypical ciliopathy caused by defective ciliary trafficking and consequent function. Insights gained from BBS mouse models are applicable to other syndromic and nonsyndromic retinal diseases. This progressive characterization of the visual phenotype in three BBS mouse models sets a baseline for testing therapeutic interventions. Methods Longitudinal acquisition of electroretinograms, optical coherence tomography scans, and visual acuity using the optomotor reflex in Bbs6/Mkks, Bbs8/Ttc8, and Bbs5 knockout mice. Gene and protein expression analysis in vivo and in vitro. Results Complete loss of BBS5, BBS6, or BBS8 leads to different rates of reti…
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly
2015
Deafblindness is part of several genetic disorders. We investigated a consanguineous Egyptian family with two siblings affected by congenital hearing loss and retinal degeneration, initially diagnosed as Usher syndrome type 1. At teenage, severe enamel dysplasia, developmental delay, and microcephaly became apparent. Genome-wide homozygosity mapping and whole-exome sequencing detected a homozygous missense mutation, c.1238G>T (p.Gly413Val), affecting a highly conserved residue of peroxisomal biogenesis factor 6, PEX6. Biochemical profiling of the siblings revealed abnormal and borderline plasma phytanic acid concentration, and cerebral imaging revealed white matter disease in both. We show …
Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells
2018
SUMMARY Primary cilia are sensory organelles that protrude from the cell membrane. Defects in the primary cilium 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 that RPE maturation defects in ciliopathies precede photoreceptor degeneration. Pharmacologically enhanced ciliogenesis in wild-type induced pluripotent stem cells (iPSC)-RPE leads to fully mature and functional cells. In contrast, ciliopathy patient-derived iPSC-RPE and iPSC-RPE with a knockdown of ciliary-trafficking pr…
SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins.
2019
The human Usher syndrome (USH) is a retinal ciliopathy, characterized by profound congenital deafness, variable vestibular dysfunction and pre-pubertal onset of retinitis pigmentosa. In the effected sensory cells, USH protein networks are assumed to function in ciliary transport processes. The USH1G protein SANS is a scaffold of the ciliary/periciliary USH protein network of photoreceptor cells. Moreover, SANS is associated with microtubules, the transport routes for protein delivery toward the cilium. To enlighten the role of SANS in ciliary transport processes, we aimed to identify transport related proteins associated with SANS. The intraflagellar transport (IFT) system is a conserved me…
University Teachers’ Conceptions of Their Role as Developers of Technology-Rich Learning Environments
2017
This phenomenographic study examines how a diverse group of university teachers conceptualised their role as developers of technology-rich learning environments at one university in Finland. The research findings illustrate a variety of conceptions. Five qualitatively different ways of understanding teachers’ roles regarding the development of technology-rich learning environments were found: 1) innovator, 2) early adopter, 3) adaptive, 4) sceptic and 5) late adopter. In order to connect the whole set of interconnected roles to a theory of change, Everett Rogers’ innovation diffusion theory was exploited in the last phase of analysis. Finally, hierarchically structured categories were creat…
Jyväskylän yliopiston kampus, Seminaarinmäki : Jyväskylä, Alvar Aalto 1951-1971 & Arto Sipinen 1970-1974
2017
Taloustieteilijöiden harjoittelijavaihdosta poikkitieteelliseen johtajuuteen : AIESEC Jyväskylä 1969-2009
2014
Pro gradu -työni on toimeksiantona tehty AIESEC Jyväskylän 40-vuotishistoria. Järjestön historiaa tarkastellaan arkistolähteiden ja alumnien haastattelujen pohjalta. AIESEC perustettiin 1948 rauhanaatteen pohjalle luomaan ymmärrystä kulttuurien välille kansainvälisen harjoitteluvaihdon avulla. AIESEC Jyväskylä perustettiin 1969 osaksi Jyväskylän yliopiston taloustieteiden ainejärjestöä Pörssi ry:tä, ja sen toiminta oli suunnattu taloustieteilijöille. Toiminta koostui harjoittelupaikkojen hankinnasta paikallisiin yrityksiin, ulkomailta tulleiden harjoittelijoiden vastaanottamisesta ja kesäohjelman järjestämisestä saapuville harjoittelijoille. Heikosti kansainvälistyneessä Keski-Suomessa järj…
IT-tiedekunnasta vuosina 1970-2016 valmistuneiden työurat
2017
Affektiivisia yhteisöjä analysoimassa : Kulttuurintutkimuksen kesäkoulu 10.–12.8.2022
2022
Raportti kulttuurintutkimuksen kesäkoulusta Affective Communities 10.–12.8.2022. publishedVersion Non peer reviewed