Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C

Autor: Nazgol Motamed-Gorji, Youssef Khalil, Cristina Gonzalez-Robles, Shamsher Khan, Philippa Mills, Hector Garcia-Moreno, Heather Ging, Ambreen Tariq, Peter T. Clayton, Paola Giunti

Publikováno v: Antioxidants, Vol 13, Iss 5, p 561 (2024)

Ataxia is a common neurological feature of Niemann–Pick disease type C (NPC). In this disease, unesterified cholesterol accumulates in lysosomes of the central nervous system and hepatic cells. Oxidation by reactive oxygen species produces oxystero

Externí odkaz: https://doaj.org/article/0efdb0f636d045a4a21de458aecaca0b

New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases

Autor: Heywood, Justyna Spiewak, Ivan Doykov, Apostolos Papandreou, Jenny Hällqvist, Philippa Mills, Peter T. Clayton, Paul Gissen, Kevin Mills, Wendy E.

Publikováno v: International Journal of Molecular Sciences; Volume 24; Issue 12; Pages: 10177

Dried blood spots (DBSs) biomarkers are convenient for monitoring for specific lysosomal storage diseases (LSDs), but they could have relevance for other LSDs. To determine the specificity and utility of glycosphingolipidoses biomarkers against other

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::83df7b1e7fdc10f67b191b0104f8406b

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Autor: Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-16 (2016)

Karin Tuschl, Philippa Mills and colleagues report mutations in the manganese (Mn) transporter gene SLC39A14in childhood-onset parkinsonism-dystonia. Using functional recapitulation, the authors also show that slc39A14 loss-of-function in zebrafish c

Externí odkaz: https://doaj.org/article/122cc65e3ed24026b35cd38223a5fe6b

Obesity-Associated GNAS Mutations and the Melanocortin Pathway

Autor: Aliki Perdikari, Jacek Mokrosinski, Tabitha Randell, I. Sadaf Farooqi, Sharon Lim, Fleur Talbot, Rebecca Bounds, Melanie Kershaw, Deepthi Jyothish, Edson Mendes de Oliveira, Tim Cheetham, Antoinette McAulay, Vikram Ayinampudi, Elizabeth C Crowne, Inês Barroso, Peter T Clayton, Praveen Partha, Cristina Matei, Sanjay Gupta, Louise C Wilson, Elana Henning, Keogh Jm, Rachel Ahmed, Natalia Wasiluk

Publikováno v: New England Journal of Medicine. 385:1581-1592

Background GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which mediates G protein-coupled receptor (GPCR) signaling. GNAS mutations cause developmental delay, short stature, and skeletal abnormalities in a syndrome called Albri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::255b2c7cc5235878185fe46e905905d4
https://doi.org/10.1056/nejmoa2103329

Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation

Autor: Youssef Khalil, Sara Carrino, Fujun Lin, Anna Ferlin, Heena V. Lad, Francesca Mazzacuva, Sara Falcone, Natalie Rivers, Gareth Banks, Danilo Concas, Carlos Aguilar, Andrew R. Haynes, Andy Blease, Thomas Nicol, Raya Al-Shawi, Wendy Heywood, Paul Potter, Kevin Mills, Daniel P. Gale, Peter T. Clayton

Publikováno v: International Journal of Molecular Sciences, Vol 23, Iss 987, p 987 (2022)
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 23; Issue 2; Pages: 987

Peroxisomal fatty acid α-oxidation is an essential pathway for the degradation of β-carbon methylated fatty acids such as phytanic acid. One enzyme in this pathway is 2-hydroxyacyl CoA lyase (HACL1), which is responsible for the cleavage of 2-hydro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01c88189b3e683c3cbd3ecd5300ea290
https://www.mdpi.com/1422-0067/23/2/987