Sara Mole
University College London
H-index: 55
Europe-United Kingdom
Top articles of Sara Mole
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations | Stem Cell Research | Marisa Ofrim Daniel Little Mina Nazari Christopher J Minnis Michael J Devine | 2024/2/1 |
Five questions on improving diversity, equity and inclusion in UK bioscience research or “How can UK bioscience be changed so that those from marginalised groups can thrive?” | BBA advances | Anna L Cox Sara E Mole | 2024/1/1 |
CLN3 transcript complexity revealed by long-read RNA sequencing analysis | bioRxiv | Hao-Yu Zhang Christopher Minnis Emil K Gustavsson Mina Ryten Sara E Mole | 2023 |
The Batten disease protein CLN3 is important for stress granules dynamics and translational activity | Journal of biological chemistry | Emily L Relton Nicolas J Roth Seda Yasa Abuzar Kaleem Guido Hermey | 2023/5/1 |
Sex bias and omission exists in Batten disease research: Systematic review of the use of animal disease models | Annie McShane Sara E Mole | 2022/11/1 | |
Neuronal Ceroid Lipofuscinoses | Dragos A Nita Sara E Mole Berge A Minassian | 2016/9 | |
CLN7 mutation causes aberrant redistribution of protein isoforms and contributes to Batten disease pathobiology | bioRxiv | Aseel M Sharaireh Marta Guevara-Ferrer Saul Herranz-Martin Marina Garcia-Macia Alexander Phillips | 2022/4/21 |
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis | Nature Communications | Irene Lopez-Fabuel Marina Garcia-Macia Costantina Buondelmonte Olga Burmistrova Nicolo Bonora | 2022/1/27 |
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients | Orphanet journal of rare diseases | Sara E Mole Angela Schulz Eben Badoe Samuel F Berkovic Emily C de Los Reyes | 2021/12 |
Author Correction: Global network analysis in Schizosaccharomycespombe reveals three distinct consequences of the common 1-kb deletion causing juvenile … | Scientific Reports | Christopher J Minnis StJohn Townsend Julia Petschnigg Elisa Tinelli Jürg Bähler | 2021/7/5 |
Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment | F1000Research | Katharina Iwan Nina Patel Amanda Heslegrave Mina Borisova Laura Lee | 2021 |
The genetic basis of phenotypic heterogeneity in the neuronal ceroid lipofuscinoses | Emily Gardner Sara E Mole | 2021/10/18 | |
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world | Journal of Paediatrics and Child Health | Charles M Lourenço Andre Pessoa Carmen C Mendes Carolina Rivera‐Nieto Diane Vergara | 2021/4 |
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype | EMBO molecular medicine | Chiara Soldati Irene Lopez‐Fabuel Luca G Wanderlingh Marina Garcia‐Macia Jlenia Monfregola | 2021/10/7 |
Mitochondrial ROS contribute to neuronal ceroid lipofuscinosis pathogenesis | Marina Garcia-Macia Irene Lopez-Fabuel Constantina Buondelmonte Nicolo Bonora Brenda Morant Ferrando | 2021/3/18 | |
Prenatal Diagnosis of Disorders of Lipid Metabolism | James E Davison Steven E. Humphries Bryan G. Winchester Sara E Mole | 2021/7/26 | |
Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease | Scientific reports | Christopher J Minnis StJohn Townsend Julia Petschnigg Elisa Tinelli Jürg Bähler | 2021/3/18 |
Safe and stable generation of induced pluripotent stem cells using doggybone DNA vectors | Molecular Therapy-Methods & Clinical Development | Christopher D Thornton Stuart Fielding Kinga Karbowniczek Alicia Roig-Merino Alysha E Burrows | 2021/12/10 |
Aberrant upregulation of glycolysis mediates CLN7 neuronal ceroid lipofuscinosis | Marina García-Macia Irene López-Fabuel Constantina Buondelmonte Olga Burmistrova Nicoló Bonora | 2021/7/20 | |
Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses | Iscience | Katharina Iwan Robert Clayton Philippa Mills Barbara Csanyi Paul Gissen | 2021/2/19 |
Co-Authors
