Sara E. Mole
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 67 publications
Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration.
Journal: Human gene therapy
Published: December 29, 2025
Using CMAC Staining for Vacuole Characterization in Yeast.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: October 13, 2025
Natural history and variants in neuronal ceroid lipofuscinoses: Uncoupling genotype and phenotype.
Journal: Developmental medicine and child neurology
Published: July 01, 2025
CLN7 protein functions at the interface between endolysosomes and stress granules to promote cell survival.
Journal: Cell death & disease
Published: April 24, 2025
Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.
Journal: Orphanet journal of rare diseases
Published: April 22, 2025
The use of nanocarriers in treating Batten disease: A systematic review.
Journal: International journal of pharmaceutics
Published: September 12, 2024
Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom.
Journal: Orphanet journal of rare diseases
Published: June 20, 2024
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.
Journal: Molecular genetics & genomic medicine
Published: May 16, 2024
CLN3 transcript complexity revealed by long-read RNA sequencing analysis.
Journal: BMC medical genomics
Published: January 16, 2024
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?"
Journal: BBA advances
Published: September 11, 2023
Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations.
Journal: Stem cell research
Published: August 26, 2023
The Batten disease protein CLN3 is important for stress granules dynamics and translational activity.
Journal: The Journal of biological chemistry
Published: January 24, 2023
Last Updated: 09/26/2026