Zobrazeno 1 - 10
of 183
pro vyhledávání: '"Sara E. Mole"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-16 (2024)
Abstract Background Batten disease is a group of rare inherited neurodegenerative diseases. Juvenile CLN3 disease is the most prevalent type, and the most common pathogenic variant shared by most patients is the “1-kb” deletion which removes two
Externí odkaz:
https://doaj.org/article/492e82a243a747a4951570d6952af2f5
Autor:
Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E. Mole, Jayesh Sheth, Andreas Puschmann
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 8, Pp n/a-n/a (2024)
Abstract Background Biallelic variants in the major facilitator superfamily domain containing 8 gene (MFSD8) are associated with distinct clinical presentations that range from typical late‐infantile neuronal ceroid lipofuscinosis type 7 (CLN7 dise
Externí odkaz:
https://doaj.org/article/a5dd1973fd084228a9cd7051f8edf816
Autor:
Marisa Ofrim, Daniel Little, Mina Nazari, Christopher J. Minnis, Michael J. Devine, Sara E. Mole, Paul Gissen, Maëlle Lorvellec
Publikováno v:
Stem Cell Research, Vol 74, Iss , Pp 103291- (2024)
The neuronal ceroid lipofuscinoses (NCLs) are a group of common inherited neurodegenerative disorders of childhood. All forms of NCLs are life-limiting with no curative treatments. Most of the 13 NCL genes encode proteins residing in endolysosomal pa
Externí odkaz:
https://doaj.org/article/a01c66734eac4429ab9d201155c5d0f0
Autor:
Irene Lopez-Fabuel, Marina Garcia-Macia, Costantina Buondelmonte, Olga Burmistrova, Nicolo Bonora, Paula Alonso-Batan, Brenda Morant-Ferrando, Carlos Vicente-Gutierrez, Daniel Jimenez-Blasco, Ruben Quintana-Cabrera, Emilio Fernandez, Jordi Llop, Pedro Ramos-Cabrer, Aseel Sharaireh, Marta Guevara-Ferrer, Lorna Fitzpatrick, Christopher D. Thompton, Tristan R. McKay, Stephan Storch, Diego L. Medina, Sara E. Mole, Peter O. Fedichev, Angeles Almeida, Juan P. Bolaños
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
CLN7 neuronal ceroid lipofuscinosis is an inherited lysosomal storage disease typically with childhood onset of neurodegenerative symptoms. Here the authors report that in a mouse model of CLN7 disease neuronal reactive oxygen species and the activit
Externí odkaz:
https://doaj.org/article/3a651b3190b84e729467d309cc661713
Autor:
Christopher D. Thornton, Stuart Fielding, Kinga Karbowniczek, Alicia Roig-Merino, Alysha E. Burrows, Lorna M. FitzPatrick, Aseel Sharaireh, John P. Tite, Sara E. Mole, Richard P. Harbottle, Lisa J. Caproni, Tristan R. McKay
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 348-358 (2021)
The application of induced pluripotent stem cells (iPSCs) in advanced therapies is increasing at pace, but concerns remain over their clinical safety profile. We report the first-ever application of doggybone DNA (dbDNA) vectors to generate human iPS
Externí odkaz:
https://doaj.org/article/0905fb3e8a9049a1a618396e833ec51d
Autor:
Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y. Wang, Ruth E. Williams
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-19 (2021)
Abstract Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificit
Externí odkaz:
https://doaj.org/article/dca030d850824609987aa2702f2ac2b3
Autor:
Christopher J. Minnis, StJohn Townsend, Julia Petschnigg, Elisa Tinelli, Jürg Bähler, Claire Russell, Sara E. Mole
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Juvenile CLN3 disease is a recessively inherited paediatric neurodegenerative disorder, with most patients homozygous for a 1-kb intragenic deletion in CLN3. The btn1 gene is the Schizosaccharomyces pombe orthologue of CLN3. Here, we have ex
Externí odkaz:
https://doaj.org/article/6527e4bac2b54420a484033fbe621105
Autor:
Christopher J. Minnis, StJohn Townsend, Julia Petschnigg, Elisa Tinelli, Jürg Bähler, Claire Russell, Sara E. Mole
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-3 (2021)
Externí odkaz:
https://doaj.org/article/96da108b24f34e5ca18dd0cb24c426b5
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:
Emily Gardner, Sara E. Mole
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults. They share some similar clinical features and the accumulation of autofluorescent storage material. Since the discovery of
Externí odkaz:
https://doaj.org/article/357329ad0860493bbe827e741e859eeb