Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Philippa B, Mills"'
Autor:
Leandro R Soria, Sonam Gurung, Giulia De Sabbata, Dany P Perocheau, Angela De Angelis, Gemma Bruno, Elena Polishchuk, Debora Paris, Paola Cuomo, Andrea Motta, Michael Orford, Youssef Khalil, Simon Eaton, Philippa B Mills, Simon N Waddington, Carmine Settembre, Andrés F Muro, Julien Baruteau, Nicola Brunetti‐Pierri
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 2, Pp 1-14 (2020)
Abstract Urea cycle disorders (UCD) are inherited defects in clearance of waste nitrogen with high morbidity and mortality. Novel and more effective therapies for UCD are needed. Studies in mice with constitutive activation of autophagy unravelled Be
Externí odkaz:
https://doaj.org/article/19085dda865a4f648e70bb866bfbf0bc
Autor:
Wendy E. Heywood, Katharina Iwan, Kevin Mills, Nina Patel, Sara E. Mole, Philippa B. Mills, Henrik Zetterberg, Amanda Heslegrave, Mina Borisova, Laura Lee, Paul Gissen, Rebecca Bower
Publikováno v:
F1000Research, Vol 10 (2022)
Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the first CLN2 enzyme replacement therapy (ERT) cerliponase alfa (Brineura) was approved by the FDA and EMA. The CLN2
Externí odkaz:
https://doaj.org/article/0387b5166bb341ce82bd0f0611c802a9
Autor:
Julien Baruteau, Dany P. Perocheau, Joanna Hanley, Maëlle Lorvellec, Eridan Rocha-Ferreira, Rajvinder Karda, Joanne Ng, Natalie Suff, Juan Antinao Diaz, Ahad A. Rahim, Michael P. Hughes, Blerida Banushi, Helen Prunty, Mariya Hristova, Deborah A. Ridout, Alex Virasami, Simon Heales, Stewen J. Howe, Suzanne M. K. Buckley, Philippa B. Mills, Paul Gissen, Simon N. Waddington
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Patients with mutations in the ASL gene present with argininosuccinic aciduria characterised by hyperammonaemia and cognitive impairment. Here, the authors show that cerebral disease involves neuronal nitrosative/oxidative stress that is not induced
Externí odkaz:
https://doaj.org/article/bccd48b998f7466b8b4e37f6409acdb2
Autor:
Apostolos, Papandreou, Ivan, Doykov, Justyna, Spiewak, Nikita, Komarov, Stephanie, Habermann, Manju A, Kurian, Philippa B, Mills, Kevin, Mills, Paul, Gissen, Wendy E, Heywood
Publikováno v:
Developmental Medicine & Child Neurology. 64:1539-1546
Using Niemann-Pick type C disease (NPC) as a paradigm, we aimed to improve biomarker discovery in patients with neurometabolic disorders.Using a multiplexed liquid chromatography tandem mass spectrometry dried bloodspot assay, we developed a selectiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::013262ef2dd027cdaa789e9800ea4e78
https://doi.org/10.1111/dmcn.15334
https://doi.org/10.1111/dmcn.15334
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
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)
Many micronutrients or cofactors derived from micronutrients are highly reactive, hence their role in catalysis of reactions by enzymes. The concentration of cofactors has to be kept low to avoid unwanted reactions while allowing them to bind to the
Externí odkaz:
https://doaj.org/article/e3b37cace0284917bf6c4078ccc2ab61
Autor:
Sonam Gurung, Oskar V. Timmermand, Dany Perocheau, Ana Luisa Gil-Martinez, Magdalena Minnion, Loukia Touramanidou, Sherry Fang, Martina Messina, Youssef Khalil, Abigail R. Barber, Richard S. Edwards, Patrick F. Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G.V. Martini, Philippa B. Mills, Simon N. Waddington, Paul Gissen, Simon Eaton, Mina Ryten, Martin Feelisch, Andrea Frassetto, Timothy H. Witney, Julien Baruteau
Argininosuccinate lyase (ASL) is a key enzyme integral to the hepatic urea cycle which is required for ammonia detoxification, and the citrulline-nitric oxide (NO) cycle for NO production. ASL deficient patients present with argininosuccinic aciduria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8192b71655c57665732e2f7516f7ad84
https://doi.org/10.1101/2022.10.19.512931
https://doi.org/10.1101/2022.10.19.512931
Autor:
Natalie Keller, Reza Boostani, Brunhilde Wirth, Ehsan Ghayoor Karimiani, Natalia Mendoza-Ferreira, Henry Houlden, Mert Karakaya, Reza Maroofian, Viorica Chelban, Paria Najarzadeh Torbati, Youssef Khalil, Philippa B. Mills, Holger Thiele
Publikováno v:
Neuromuscular Disorders. 30:583-589
PDXK encodes for a pyridoxal kinase, which converts inactive B6 vitamers to the active cofactor pyridoxal 5'-phosphate (PLP). Recently, biallelic pathogenic variants in PDXK were shown to cause axonal Charcot-Marie-Tooth disease with optic atrophy th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e2edb5749ee681df9fe2ccad01279de
https://doi.org/10.1016/j.nmd.2020.04.004
https://doi.org/10.1016/j.nmd.2020.04.004
Publikováno v:
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd956ca062b447f20c71cda1b8c02f97
https://doi.org/10.1007/978-3-030-67727-5_38
https://doi.org/10.1007/978-3-030-67727-5_38
Autor:
Katharina Iwan, Nina Patel, Amanda Heslegrave, Mina Borisova, Laura Lee, Rebecca Bower, Sara E. Mole, Philippa B. Mills, Henrik Zetterberg, Kevin Mills, Paul Gissen, Wendy E. Heywood
Publikováno v:
F1000Research
Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the first CLN2 enzyme replacement therapy (ERT) cerliponase alfa (Brineura) was approved by the FDA and EMA. The CLN2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf380446fe4c880cc45348892e9e2f10
http://europepmc.org/articles/PMC8777495
http://europepmc.org/articles/PMC8777495