Glutathione-dependent depalmitoylation of phospholemman by peroxiredoxin 6

Autor: Jacqueline Howie, Lindsay B. Tulloch, Elaine Brown, Louise Reilly, Fiona B. Ashford, Jennifer Kennedy, Krzysztof J. Wypijewski, Karen L. Aughton, Jason K.C. Mak, Michael J. Shattock, Niall J. Fraser, William Fuller

Publikováno v: Cell Reports, Vol 43, Iss 2, Pp 113679- (2024)

Summary: Phospholemman (PLM) regulates the cardiac sodium pump: PLM phosphorylation activates the pump whereas PLM palmitoylation inhibits its activity. Here, we show that the anti-oxidant protein peroxiredoxin 6 (Prdx6) interacts with and depalmitoy

Externí odkaz: https://doaj.org/article/dcac5956dc204ac4934750eee8fdf86f

How Functional Genomics Can Keep Pace With VUS Identification

Autor: Corey L. Anderson, Saba Munawar, Louise Reilly, Timothy J. Kamp, Craig T. January, Brian P. Delisle, Lee L. Eckhardt

Publikováno v: Frontiers in Cardiovascular Medicine, Vol 9 (2022)

Over the last two decades, an exponentially expanding number of genetic variants have been identified associated with inherited cardiac conditions. These tremendous gains also present challenges in deciphering the clinical relevance of unclassified v

Externí odkaz: https://doaj.org/article/ae94dfc1a53e416cbf25d2dfb342f9e2

Pediatric Dilated Cardiomyopathy‐Associated LRRC10 (Leucine‐Rich Repeat–Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L‐Type Ca2+ Channels

Autor: Marites T. Woon, Pamela A. Long, Louise Reilly, Jared M. Evans, Alexis M. Keefe, Martin R. Lea, Carl J. Beglinger, Ravi C. Balijepalli, Youngsook Lee, Timothy M. Olson, Timothy J. Kamp

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 7, Iss 3 (2018)

BackgroundGenetic causes of dilated cardiomyopathy (DCM) are incompletely understood. LRRC10 (leucine‐rich repeat–containing 10) is a cardiac‐specific protein of unknown function. Heterozygous mutations in LRRC10 have been suggested to cause DC

Externí odkaz: https://doaj.org/article/52b0263920c94d91858af49967d63279

Skin-targeted inhibition of PPAR β/δ by selective antagonists to treat PPAR β/δ-mediated psoriasis-like skin disease in vivo.

Autor: Katrin Hack, Louise Reilly, Colin Palmer, Kevin D Read, Suzanne Norval, Robert Kime, Kally Booth, John Foerster

Publikováno v: PLoS ONE, Vol 7, Iss 5, p e37097 (2012)

We have previously shown that peroxisome proliferator activating receptor ß/δ (PPAR β/δ is overexpressed in psoriasis. PPAR β/δ is not present in adult epidermis of mice. Targeted expression of PPAR β/δ and activation by a selective synthetic

Externí odkaz: https://doaj.org/article/5e464c15485647c3b214801eaed238d6

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

Autor: Madeline Louise Reilly, Noor ul Ain, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, Wolfgang Högler, Maarten F. C. M. Knapen, Myrthe van den Born, Sophie Saunier, Sadaf Naz, Valérie Cormier‐Daire, Alexandre Benmerah, Outi Makitie

Publikováno v: Journal of Bone and Mineral Research, 37(9), 1642-1652. Wiley-Blackwell
Journal of Bone and Mineral Research
Journal of Bone and Mineral Research, In press, ⟨10.1002/jbmr.4639⟩

Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in severity from lethal to mild phenotypes. This study aimed to underpin the genetic cause of skeletal dysplas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::391d9729cccdcc2a8252045af6208125
https://doi.org/10.1002/jbmr.4639