Zobrazeno 1 - 10
of 211
pro vyhledávání: '"Robert S, Molday"'
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 6 (2024)
Externí odkaz:
https://doaj.org/article/f1839c52564b4545b4c39bc282eef3e1
Autor:
Hanna De Bruyn, Megan Johnson, Madelyn Moretti, Saleh Ahmed, Mircea Mujat, James D. Akula, Tomislav Glavan, Ivana Mihalek, Sigrid Aslaksen, Laurie L. Molday, Robert S. Molday, Bruce A. Berkowitz, Anne B. Fulton
Publikováno v:
Diagnostics, Vol 14, Iss 14, p 1545 (2024)
Stargardt disease (STGD1), associated with biallelic variants in the ABCA4 gene, is the most common heritable macular dystrophy and is currently untreatable. To identify potential treatment targets, we characterized surviving STGD1 photoreceptors. We
Externí odkaz:
https://doaj.org/article/fe319624f71648eeaee5f8a591cb1a63
Autor:
Melita Kaltak, Rocio Blanco-Garavito, Laurie L. Molday, Claire-Marie Dhaenens, Eric E. Souied, Gerard Platenburg, Jim Swildens, Robert S. Molday, Frans P. M. Cremers
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-15 (2023)
Abstract Background ABCA4, the gene implicated in Stargardt disease (STGD1), contains 50 exons, of which 17 contain multiples of three nucleotides. The impact of in-frame exon skipping is yet to be determined. Antisense oligonucleotides (AONs) have b
Externí odkaz:
https://doaj.org/article/cddd2e0c77e44ce5a473e43acb5cf400
Autor:
Jessica Fernandes Scortecci, Laurie L. Molday, Susan B. Curtis, Fabian A. Garces, Pankaj Panwar, Filip Van Petegem, Robert S. Molday
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
ABCA4 is an ATP-binding cassette (ABC) transporter that flips N-retinylidenephosphatidylethanolamine (N-Ret-PE) to the cytoplasmic leaflet of photoreceptor membranes. ABCA4 mutations are associated with loss of vision. Here, structures of ABCA4 with
Externí odkaz:
https://doaj.org/article/c7f6dce4615b4c3fa5bb094bc2251eac
Autor:
Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín-Hernández, Maria J. Guillen Sacoto, Lindsay B. Henderson, Heather McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background ATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8A2 mutations. Meth
Externí odkaz:
https://doaj.org/article/fe013e7e4ed249f6a19b18adfd360c6a
Autor:
Francesco Tadini‐Buoninsegni, Stine A. Mikkelsen, Louise S. Mogensen, Rikke Holm, Robert S. Molday, Jens Peter Andersen
Publikováno v:
Tadini-Buoninsegni, F, Mikkelsen, S, Mogensen, L, Holm, R, Molday, R S & Andersen, J P 2023, ' Electrogenic reaction step and phospholipid translocation pathway of the mammalian P4-ATPase ATP8A2 ', FEBS Letters, vol. 597, no. 4, pp. 495-503 . https://doi.org/10.1002/1873-3468.14459
ATP8A2 is a mammalian P4-ATPase (flippase) that translocates the negatively charged lipid substrate phosphatidylserine from the exoplasmic leaflet to the cytoplasmic leaflet of cellular membranes. Using an electrophysiological method based on solid s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95be0ed70dd1692d08ab046c2b12defe
https://pure.au.dk/portal/da/publications/electrogenic-reaction-step-and-phospholipid-translocation-pathway-of-the-mammalian-p4atpase-atp8a2(000cab4d-9ad0-4048-b947-202201082f54).html
https://pure.au.dk/portal/da/publications/electrogenic-reaction-step-and-phospholipid-translocation-pathway-of-the-mammalian-p4atpase-atp8a2(000cab4d-9ad0-4048-b947-202201082f54).html
Autor:
Rong-Chang, Li, Laurie L, Molday, Chih-Chun, Lin, Xiaozhi, Ren, Alexander, Fleischmann, Robert S, Molday, King-Wai, Yau
Publikováno v:
Proceedings of the National Academy of Sciences. 119
G protein–coupled receptor (GPCR) signaling is ubiquitous. As an archetype of this signaling motif, rod phototransduction has provided many fundamental, quantitative details, including a dogma that one active GPCR molecule activates a substantial n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88a33792e5fc26798a3788486334420a
https://doi.org/10.1073/pnas.2121225119
https://doi.org/10.1073/pnas.2121225119
Publikováno v:
Journal of Biological Chemistry. 299:104614
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee28f3076cb0203327a630035eab903a
https://doi.org/10.1016/j.jbc.2023.104614
https://doi.org/10.1016/j.jbc.2023.104614
Autor:
Jack W Hickmott, Chih-yu Chen, David J Arenillas, Andrea J Korecki, Siu Ling Lam, Laurie L Molday, Russell J Bonaguro, Michelle Zhou, Alice Y Chou, Anthony Mathelier, Sanford L Boye, William W Hauswirth, Robert S Molday, Wyeth W Wasserman, Elizabeth M Simpson
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 3, Iss C (2016)
Current gene therapies predominantly use small, strong, and readily available ubiquitous promoters. However, as the field matures, the availability of small, cell-specific promoters would be greatly beneficial. Here we design seven small promoters fr
Externí odkaz:
https://doaj.org/article/ec3b5f27a8ba4237bd6536d98ddff289
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0147653 (2016)
RS1, also known as retinoschisin, is a disulphide-linked, discoidin domain containing homo-oligomeric protein that plays a crucial role in maintaining the cellular and synaptic organization of the retina. This is highlighted by the finding that over
Externí odkaz:
https://doaj.org/article/aebc90695e7740cd99c6abf46bcb8531