Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation

Authors: Marina Moya-Molina, Birthe Dorgau, Emily Flood, Stef J. F. Letteboer, Esben Lorentzen, Jonathan Coxhead, Graham Smith, Ronald Roepman, Sushma Nagaraja Grellscheid, Lyle Armstrong, Majlinda Lako

Source: Cell Death and Disease, Vol 15, Iss 10, Pp 1-17 (2024)

Subject Terms: Cytology, QH573-671

File Description: electronic resource

Relation: https://doaj.org/toc/2041-4889

Access URL: https://doaj.org/article/6ac21c2cb7924f1387437c17d929f6bd

FAIR+E pathogen data for surveillance and research: lessons from COVID-19

Authors: Aitana Neves, Isabel Cuesta, Erik Hjerde, Terje Klemetsen, David Salgado, Jacques van Helden, Nadim Rahman, Nazeefa Fatima, Nestoras Karathanasis, Pawel Zmora, Wolmar Nyberg Åkerström, Sushma Nagaraja Grellscheid, Zahra Waheed, Niklas Blomberg

Source: Frontiers in Public Health, Vol 11 (2023)

Subject Terms: data sharing and re-use, FAIR (Findable Accessible Interoperable and Reusable) principles, equity, COVID-19, surveillance, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpubh.2023.1289945/full; https://doaj.org/toc/2296-2565

Access URL: https://doaj.org/article/d1e899771f6c4e9c99f8298eee7cfd8c

Particle detection and tracking with DNA

Authors: Ciaran A. J. O’Hare, Vassili G. Matsos, Joseph Newton, Karl Smith, Joel Hochstetter, Ravi Jaiswar, Wunna Kyaw, Aimee McNamara, Zdenka Kuncic, Sushma Nagaraja Grellscheid, Céline Bœhm

Source: European Physical Journal C: Particles and Fields, Vol 82, Iss 4, Pp 1-22 (2022)

Subject Terms: Astrophysics, QB460-466, Nuclear and particle physics. Atomic energy. Radioactivity, QC770-798

File Description: electronic resource

Relation: https://doaj.org/toc/1434-6052

Access URL: https://doaj.org/article/292f516afeb2449aa09c445d3ad23930

Cellular senescence drives age-dependent hepatic steatosis

Authors: Mikolaj Ogrodnik, Satomi Miwa, Tamar Tchkonia, Dina Tiniakos, Caroline L. Wilson, Albert Lahat, Christoper P. Day, Alastair Burt, Allyson Palmer, Quentin M. Anstee, Sushma Nagaraja Grellscheid, Jan H J. Hoeijmakers, Sander Barnhoorn, Derek A. Mann, Thomas G. Bird, Wilbert P. Vermeij, James L. Kirkland, João F. Passos, Thomas von Zglinicki, Diana Jurk

Source: Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/59da7366bd92469288a45b90a4b396f9

An ancient germ cell-specific RNA-binding protein protects the germline from cryptic splice site poisoning

Authors: Ingrid Ehrmann, James H Crichton, Matthew R Gazzara, Katherine James, Yilei Liu, Sushma Nagaraja Grellscheid, Tomaž Curk, Dirk de Rooij, Jannetta S Steyn, Simon Cockell, Ian R Adams, Yoseph Barash, David J Elliott

Source: eLife, Vol 8 (2019)

Subject Terms: RNA, gene expression, alternative splicing, meiosis, spermatogenesis, retrogene, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/39304; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/12240c42201f4f579a3d5b6ca4c05d50

PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects

Authors: Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Elton J. R. Vasconcelos, Yanlong Ji, Marina Moya Molina, Joseph Collin, Rachel Queen, Birthe Dorgau, Avril Watson, Marzena Kurzawa-Akanbi, Ross Laws, Abhijit Saxena, Chia Shyan Beh, Chileleko Siachisumo, Franziska Goertler, Magdalena Karwatka, Tracey Davey, Chris F. Inglehearn, Martin McKibbin, Reinhard Lührmann, David H. Steel, David J. Elliott, Lyle Armstrong, Henning Urlaub, Robin R. Ali, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Sina Mozaffari-Jovin, Majlinda Lako

Source: Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/543dcbabd0154436a3a7c83f1dd4c6bd

Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient‐induced pluripotent stem cell‐derived retinal pigment epithelium cells

Authors: Maria Georgiou, Chunbo Yang, Robert Atkinson, Kuan‐Ting Pan, Adriana Buskin, Marina Moya Molina, Joseph Collin, Jumana Al‐Aama, Franziska Goertler, Sebastian E. J. Ludwig, Tracey Davey, Reinhard Lührmann, Sushma Nagaraja‐Grellscheid, Colin A. Johnson, Robin Ali, Lyle Armstrong, Viktor Korolchuk, Henning Urlaub, Sina Mozaffari‐Jovin, Majlinda Lako

Source: Clinical and Translational Medicine, Vol 12, Iss 3, Pp n/a-n/a (2022)

Subject Terms: aggregate formation, autophagy, human pluripotent stem cells, proteasome, PRPF31, retinal organoids, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2001-1326

Access URL: https://doaj.org/article/d0deada325104e39a8d523ef7fabc4d6

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond

Authors: Chunbo Yang, Maria Georgiou, Robert Atkinson, Joseph Collin, Jumana Al-Aama, Sushma Nagaraja-Grellscheid, Colin Johnson, Robin Ali, Lyle Armstrong, Sina Mozaffari-Jovin, Majlinda Lako

Source: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Subject Terms: retinitis pigmentosa, pre-mRNA processing factor, spliceosome, gene therapy, splicing, animal models, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.700276/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/f68e9ad4e4a948848fba0445af61964a

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

Authors: Adriana Buskin, Lili Zhu, Valeria Chichagova, Basudha Basu, Sina Mozaffari-Jovin, David Dolan, Alastair Droop, Joseph Collin, Revital Bronstein, Sudeep Mehrotra, Michael Farkas, Gerrit Hilgen, Kathryn White, Kuan-Ting Pan, Achim Treumann, Dean Hallam, Katarzyna Bialas, Git Chung, Carla Mellough, Yuchun Ding, Natalio Krasnogor, Stefan Przyborski, Simon Zwolinski, Jumana Al-Aama, Sameer Alharthi, Yaobo Xu, Gabrielle Wheway, Katarzyna Szymanska, Martin McKibbin, Chris F. Inglehearn, David J. Elliott, Susan Lindsay, Robin R. Ali, David H. Steel, Lyle Armstrong, Evelyne Sernagor, Henning Urlaub, Eric Pierce, Reinhard Lührmann, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Majlinda Lako

Source: Nature Communications, Vol 9, Iss 1, Pp 1-19 (2018)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/39722a7de98941cab07e48fc0b8400de