Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Laurie L Molday"'
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:
Frontiers in Molecular Neuroscience, Vol 7 (2014)
RD3 is an evolutionarily conserved 23 kDa protein expressed in rod and cone photoreceptor cells. Mutations in the gene encoding RD3 resulting in unstable non-functional C-terminal truncated proteins are responsible for early onset photoreceptor degen
Externí odkaz:
https://doaj.org/article/5c42a73163854d3abeb340e47c476eac
Autor:
Victor L Jensen, Nathan J Bialas, Sharon L Bishop-Hurley, Laurie L Molday, Katarzyna Kida, Phuong Anh T Nguyen, Oliver E Blacque, Robert S Molday, Michel R Leroux, Donald L Riddle
Publikováno v:
PLoS Genetics, Vol 6, Iss 11, p e1001199 (2010)
In harsh conditions, Caenorhabditis elegans arrests development to enter a non-aging, resistant diapause state called the dauer larva. Olfactory sensation modulates the TGF-β and insulin signaling pathways to control this developmental decision. Fou
Externí odkaz:
https://doaj.org/article/e4c850b44c1e4997a0d8aa6f79af6285
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:
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
Publikováno v:
Human Gene Therapy. 30:1361-1370
Autosomal recessive Stargardt disease is the most common inherited macular degeneration in humans. It is caused by mutations in the retina-specific ATP binding cassette transporter A4 (ABCA4) that ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c5f0b20c8b42fcc2be7995866029345
https://doi.org/10.1089/hum.2019.132
https://doi.org/10.1089/hum.2019.132
Publikováno v:
Liou, A Y, Molday, L L, Wang, J, Andersen, J P & Molday, R S 2019, ' Identification and functional analyses of disease-associated P4-ATPase phospholipid flippase variants in red blood cells ', Journal of Biological Chemistry, vol. 294, no. 17, pp. 6809-6821 . https://doi.org/10.1074/jbc.RA118.007270
ATP-dependent phospholipid flippase activity crucial for generating lipid asymmetry was first detected in red blood cell (RBC) membranes, but the P4-ATPases responsible have not been directly determined. Using affinity-based MS, we show that ATP11C i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a2bfb8cb9c731a72eec1c4ff2c57f1e
https://doi.org/10.1074/jbc.ra118.007270
https://doi.org/10.1074/jbc.ra118.007270