Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Katrin, Junger"'
Autor:
Felix Hoffmann, Sylvia Bolz, Katrin Junger, Franziska Klose, Isabel F. Stehle, Marius Ueffing, Karsten Boldt, Tina Beyer
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
The intraflagellar transport (IFT) machinery is essential for cilia assembly, maintenance, and trans-localization of signaling proteins. The IFT machinery consists of two large multiprotein complexes, one of which is the IFT-B. TTC30A and TTC30B are
Externí odkaz:
https://doaj.org/article/c43ca1c5f6814b369a71ab2c3aec1cfe
Autor:
Siebren Faber, Olivier Mercey, Katrin Junger, Alejandro Garanto, Helen May-Simera, Marius Ueffing, Rob W.J. Collin, Karsten Boldt, Paul Guichard, Virginie Hamel, Ronald Roepman
Publikováno v:
JCI Insight, Vol 8, Iss 10 (2023)
Leber congenital amaurosis (LCA) is a group of inherited retinal diseases characterized by early-onset, rapid loss of photoreceptor cells. Despite the discovery of a growing number of genes associated with this disease, the molecular mechanisms of ph
Externí odkaz:
https://doaj.org/article/a2bc26897c2d4afd9e4c1af09072289e
Autor:
Mariam G. Aslanyan, Cenna Doornbos, Gaurav D. Diwan, Zeinab Anvarian, Tina Beyer, Katrin Junger, Sylvia E. C. van Beersum, Robert B. Russell, Marius Ueffing, Alexander Ludwig, Karsten Boldt, Lotte B. Pedersen, Ronald Roepman
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Establishment and maintenance of the primary cilium as a signaling-competent organelle requires a high degree of fine tuning, which is at least in part achieved by a variety of post-translational modifications. One such modification is ubiquitination
Externí odkaz:
https://doaj.org/article/763fbe7f15ec459a96e34a2a65158816
Autor:
Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T. Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana C. Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada, Heymut Omran
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
The mechanism by which adenosine monophosphate modulates dynein ATPase-mediated ciliary and flagellar beating remains obscure. Here the authors identify an axonemal module including cilia and flagella associated protein 45 that supports adenine nucle
Externí odkaz:
https://doaj.org/article/ab0a6ca10924497e88909fc70b971840
Autor:
Siebren Faber, Stef J. F. Letteboer, Katrin Junger, Rossano Butcher, Trinadh V. Satish Tammana, Sylvia E. C. van Beersum, Marius Ueffing, Rob W. J. Collin, Qin Liu, Karsten Boldt, Ronald Roepman
Publikováno v:
Cells, Vol 12, Iss 2, p 312 (2023)
Mutations in PDE6D impair the function of its cognate protein, phosphodiesterase 6D (PDE6D), in prenylated protein trafficking towards the ciliary membrane, causing the human ciliopathy Joubert Syndrome (JBTS22) and retinal degeneration in mice. In t
Externí odkaz:
https://doaj.org/article/12a6f3da617b4ffea1586043b075c872
Autor:
Tobias Leonhard, Gaurav D. Diwan, Franziska Klose, Isabel F. Stehle, Katrin Junger, Marian Seda, Sylvia Bolz, Franziska Woerz, Robert B. Russell, Karsten Boldt, Dagan Jenkins, Marius Ueffing, Tina Beyer
The mechanisms underlying recessive Mendelian diseases and the interplay between genotype and phenotype still need to be better understood. It is therefore necessary to characterise the functional effects of missense mutations at the protein level. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6cfbd20da5c3c71f7da419122544265
https://doi.org/10.1101/2023.01.18.523235
https://doi.org/10.1101/2023.01.18.523235
Autor:
Siebren Faber, Olivier Mercey, Katrin Junger, Alejandro Garanto, Marius Ueffing, Rob W.J. Collin, Karsten Boldt, Paul Guichard, Virginie Hamel, Ronald Roepman
Leber Congenital Amaurosis (LCA) is a group of Inherited Retinal Diseases (IRDs) characterized by the early onset and rapid loss of photoreceptor cells. Despite the discovery of a growing number of genes associated with this disease, the molecular me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb55cd79bae5c2607ed7efff2ceb9134
https://doi.org/10.1101/2023.01.17.524360
https://doi.org/10.1101/2023.01.17.524360
Autor:
Fubo, Cheng, Wenxu, Zheng, Chang, Liu, Peter Antony, Barbuti, Libo, Yu-Taeger, Nicolas, Casadei, Jeannette, Huebener-Schmid, Jakob, Admard, Karsten, Boldt, Katrin, Junger, Marius, Ueffing, Henry, Houlden, Manu, Sharma, Rejko, Kruger, Kathrin, Grundmann-Hauser, Thomas, Ott, Olaf, Riess
Publikováno v:
Science advances. 8(47)
Evidence from patients with Parkinson's disease (PD) and our previously reported α-synuclein (SNCA) transgenic rat model support the idea that increased SNCA protein is a substantial risk factor of PD pathogenesis. However, little is known about the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1ec6c460c746d06a2cf050bfe8c370a9
https://pubmed.ncbi.nlm.nih.gov/36417521
https://pubmed.ncbi.nlm.nih.gov/36417521
Autor:
Marilena Elpidorou, James A. Poulter, Katarzyna Szymanska, Wia Baron, Katrin Junger, Karsten Boldt, Marius Ueffing, Lydia Green, John H. Livingston, Eammon G. Sheridan, Colin A. Johnson
Publikováno v:
European journal of human genetics : EJHG, 860-864. Nature Publishing Group
STARTPAGE=860;ENDPAGE=864;ISSN=1018-4813;TITLE=European journal of human genetics : EJHG
STARTPAGE=860;ENDPAGE=864;ISSN=1018-4813;TITLE=European journal of human genetics : EJHG
Leukodystrophies are a heterogenous group of genetic disorders, characterised by abnormal development of cerebral white matter. Pelizaeus-Merzbacher disease is caused by mutations in PLP1, encoding major myelin-resident protein required for myelin sh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e59a536c23af23127344e8ded39e3e9
https://eprints.whiterose.ac.uk/184118/1/Elpidorou_et_al-2022-European_Journal_of_Human_Genetics.pdf
https://eprints.whiterose.ac.uk/184118/1/Elpidorou_et_al-2022-European_Journal_of_Human_Genetics.pdf
Autor:
Beyer, Felix Hoffmann, Sylvia Bolz, Katrin Junger, Franziska Klose, Timm Schubert, Franziska Woerz, Karsten Boldt, Marius Ueffing, Tina
Publikováno v:
Genes; Volume 13; Issue 7; Pages: 1191
Intraflagellar transport (IFT) is a microtubule-based system that supports the assembly and maintenance of cilia. The dysfunction of IFT leads to ciliopathies of variable severity. Two of the IFT-B components are the paralogue proteins TTC30A and TTC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::f603628fd9714736160113e092b37aa9