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Sara E. Mole

Affiliations: 
MRC LMCB University College London, London, United Kingdom 
Area:
genetic disease, neurodegeneration, lysosomes, Batten disease, Chediak-Higashi Syndrome
Website:
http://www.ucl.ac.uk/lmcb/research-groups/mole.htm
Google:
"Sara Mole"
Cross-listing: Batten Disease Tree

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Parents

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Children

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Rebecca L. Haines grad student 2005-2009 UCL
Sandra Codlin post-doc 2002-2009 UCL

Collaborators

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Fred Chang collaborator 2005- UCL
Jerry Hyams collaborator 2001-2005 UCL
Yannick Gachet collaborator 2002-2005 UCL
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Publications

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Zhang HY, Minnis C, Gustavsson E, et al. (2024) CLN3 transcript complexity revealed by long-read RNA sequencing analysis. Bmc Medical Genomics. 17: 244
Ofrim M, Little D, Nazari M, et al. (2023) Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations. Stem Cell Research. 74: 103291
Relton EL, Roth NJ, Yasa S, et al. (2023) The Batten disease protein CLN3 is important for stress granules dynamics and translational activity. The Journal of Biological Chemistry. 104649
Lopez-Fabuel I, Garcia-Macia M, Buondelmonte C, et al. (2022) Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis. Nature Communications. 13: 536
Gardner E, Mole SE. (2021) The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses. Frontiers in Neurology. 12: 754045
Soldati C, Lopez-Fabuel I, Wanderlingh LG, et al. (2021) Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype. Embo Molecular Medicine. e13742
Minnis CJ, Townsend S, Petschnigg J, et al. (2021) Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease. Scientific Reports. 11: 6332
Lourenço CM, Pessoa A, Mendes CC, et al. (2020) 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
Kleine Holthaus SM, Aristorena M, Maswood R, et al. (2020) Gene therapy targeting the inner retina rescues the retinal phenotype in a mouse model of CLN3 Batten disease. Human Gene Therapy
Rahim AA, Russell C, Mole SE. (2020) Special edition: The NCLs/Batten disease. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 165824
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