Browse by UCL people
Group by: Type | Date
Number of items: 46.
Article
Beesley, C;
Guerreiro, RJ;
Bras, JT;
Williams, RE;
Taratuto, AL;
Eltze, C;
Mole, SE;
(2017)
CLN8 disease caused by large genomic deletions.
Molecular Genetics & Genomic Medicine
, 5
(1)
pp. 85-91.
10.1002/mgg3.263.
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Berkovic, SF;
Oliver, KL;
Canafoglia, L;
Krieger, P;
Damiano, JA;
Hildebrand, MS;
Morbin, M;
... Carpenter, S; + view all
(2019)
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Brain
, 142
(1)
pp. 59-69.
10.1093/brain/awy297.
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Berkovic, SF;
Staropoli, JF;
Carpenter, S;
Oliver, KL;
Kmoch, S;
Anderson, GW;
Damiano, JA;
... ANCL Gene Discovery Consortium, .; + view all
(2016)
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Neurology
, 87
(6)
pp. 579-584.
10.1212/WNL.0000000000002943.
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Bond, ME;
Brown, R;
Rallis, C;
Bahler, J;
Mole, SE;
(2015)
A central role for TOR signalling in a yeast model for juvenile CLN3 disease.
Microbial Cell
, 2
(12)
pp. 466-480.
10.15698/mic2015.12.241.
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Bras, J;
Verloes, A;
Schneider, SA;
Mole, SE;
Guerreiro, RJ;
(2012)
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
Human Molecular Genetics
, 21
(12)
2646 - 2650.
10.1093/hmg/dds089.
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Butz, ES;
Chandrachud, U;
Mole, SE;
Cotman, SL;
(2020)
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
, 1866
(9)
, Article 165571. 10.1016/j.bbadis.2019.165571.
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Clemente-Ramos, JÁ;
Mole, SE;
(2026)
Using CMAC Staining for Vacuole Characterization in Yeast.
Methods in Molecular Biology
, 2976
pp. 175-188.
10.1007/978-1-0716-4844-5_13.
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Cooper, JD;
Mole, SE;
(2020)
Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research?
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
, 1866
(9)
, Article 165681. 10.1016/j.bbadis.2020.165681.
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Danyukova, T;
Ariunbat, K;
Thelen, M;
Brocke-Ahmadinejad, N;
Mole, SE;
Storch, S;
(2018)
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.
Human Molecular Genetics
, 27
(10)
pp. 1711-1722.
10.1093/hmg/ddy076.
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Dobloug, Sigurd;
Kjellstroem, Ulrika;
Anderson, Glenn;
Gardner, Emily;
Mole, Sara E;
Sheth, Jayesh;
Puschmann, Andreas;
(2024)
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.
Molecular Genetics and Genomic Medicine
, 12
(8)
, Article e2505. 10.1002/mgg3.2505.
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Faller, KM;
Bras, J;
Sharpe, SJ;
Anderson, GW;
Darwent, L;
Kun-Rodrigues, C;
Alroy, J;
... Guerreiro, RJ; + view all
(2016)
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?
Journal of Neuroscience Research
, 94
(4)
pp. 339-347.
10.1002/jnr.23710.
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Fietz, M;
AlSayed, M;
Burke, D;
Cohen-Pfeffer, J;
Cooper, JD;
Dvořáková, L;
Giugliani, R;
... Miller, N; + view all
(2016)
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Molecular Genetics and Metabolism
, 119
(1-2)
pp. 160-167.
10.1016/j.ymgme.2016.07.011.
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Gardner, E;
Mole, SE;
(2021)
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
Frontiers in Neurology
, 12
, Article 754045. 10.3389/fneur.2021.754045.
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Gardner, E;
Bailey, M;
Schulz, A;
Aristorena, M;
Miller, N;
Mole, SE;
(2019)
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Human Mutation
, 40
(11)
pp. 1924-1938.
10.1002/humu.23860.
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Guerreiro, RJ;
Brown, R;
Dian, D;
de Goede, C;
Bras, J;
Mole, SE;
(2016)
Mutation of TBCK causes a rare recessive developmental disorder.
Neurology: Genetics
, 2
(3)
, Article e76. 10.1212/NXG.0000000000000076.
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Henke, Larissa;
Ghorbani, Ali;
Mole, Sara E;
(2025)
The use of nanocarriers in treating Batten disease: A systematic review.
International Journal of Pharmaceutics
, 670
, Article 125094. 10.1016/j.ijpharm.2024.125094.
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Holthaus, S-MK;
Herranz-Martin, S;
Massaro, G;
Aristorena, M;
Hoke, J;
Hughes, MP;
Maswood, R;
... Ali, RR; + view all
(2019)
Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease.
Human Molecular Genetics
, 28
(23)
pp. 3867-3879.
10.1093/hmg/ddz210.
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Iwan, Katharina;
Patel, Nina;
Heslegrave, Amanda;
Borisova, Mina;
Lee, Laura;
Bower, Rebecca;
Mole, Sara E;
... Heywood, Wendy E; + view all
(2021)
Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment.
F1000Research
, 10
, Article 614. 10.12688/f1000research.54556.2.
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Iwan, K;
Clayton, R;
Mills, P;
Csanyi, B;
Gissen, P;
Mole, SE;
Palmer, DN;
... Heywood, WE; + view all
(2021)
Urine Proteomics Analysis of Patients with Neuronal Ceroid Lipofuscinoses.
iScience
, 4
(2)
, Article 102020. 10.1016/j.isci.2020.102020.
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Kleine Holthaus, S-M;
Aristorena, M;
Maswood, R;
Semenyuk, O;
Hoke, J;
Hare, A;
Smith, AJ;
... Ali, RR; + view all
(2020)
Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease.
Human Gene Therapy
, 31
(13-14)
pp. 709-718.
10.1089/hum.2020.038.
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Kleine Holthaus, S-M;
Ribeiro, J;
Abelleira-Hervas, L;
Pearson, RA;
Duran, Y;
Georgiadis, A;
Sampson, RD;
... Ali, RR; + view all
(2018)
Prevention of Photoreceptor Cell Loss in a Cln6nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells.
Molecular Therapy
, 26
(5)
pp. 1343-1353.
10.1016/j.ymthe.2018.02.027.
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Kohan, R;
Mole, SE;
Cotman, SL;
(2015)
Special issue: Molecular basis of NCL.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
, 1852
(10 Pt B)
pp. 2235-2236.
10.1016/j.bbadis.2015.06.023.
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Liu, W;
Kleine-Holthaus, S-M;
Herranz-Martin, S;
Aristorena, M;
Mole, SE;
Smith, AJ;
Ali, RR;
(2020)
Experimental gene therapies for the NCLs.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
, 1866
(9)
, Article 165772. 10.1016/j.bbadis.2020.165772.
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Lopez-Fabuel, Irene;
Garcia-Macia, Marina;
Buondelmonte, Costantina;
Burmistrova, Olga;
Bonora, Nicolo;
Alonso-Batan, Paula;
Morant-Ferrando, Brenda;
... Bolaños, Juan P; + view all
(2022)
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
Nature Communications
, 13
, Article 536. 10.1038/s41467-022-28191-1.
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Lourenço, CM;
Pessoa, A;
Mendes, CC;
Rivera-Nieto, C;
Vergara, D;
Troncoso, M;
Gardner, E;
... Mole, SE; + view all
(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
10.1111/jpc.15250.
(In press).
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Marotta, D;
Tinelli, E;
Mole, SE;
(2017)
NCLs and ER: A stressful relationship.
Biochim Biophys Acta
, 1863
(6)
pp. 1273-1281.
10.1016/j.bbadis.2017.04.003.
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McShane, Annie;
Mole, Sara E;
(2022)
Sex bias and omission exists in Batten disease research: Systematic review of the use of animal disease models.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
, 1868
(11)
, Article 166489. 10.1016/j.bbadis.2022.166489.
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Minnis, Christopher J;
Townsend, StJohn;
Petschnigg, Julia;
Tinelli, Elisa;
Baehler, Juerg;
Russell, Claire;
Mole, Sara E;
(2021)
Author Correction: Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease.
[Corrigendum].
Scientific Reports
, 11
(1)
, Article 14198. 10.1038/s41598-021-93446-8.
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Minnis, CJ;
Townsend, S;
Petschnigg, J;
Tinelli, E;
Bähler, J;
Russell, C;
Mole, SE;
(2021)
Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease.
Scientific Reports
, 11
, Article 6332. 10.1038/s41598-021-85471-4.
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Mole, Sara E;
Gissen, Paul;
Nordstrom, Shannon;
Wait, Suzanne;
Allen, Loise;
Antonini, Mathilda;
Brownnutt, Liz;
... Nightingale, Joanna; + view all
(2025)
Evidence of the impact of CLN2 and CLN3
Batten disease on families in the United
Kingdom.
Orphanet Journal of Rare Diseases
, 20
, Article 223. 10.1186/s13023-025-03747-8.
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Mole, SE;
Gardner, E;
Mason, HL;
(2025)
How can real-world data, registries, and databases address the challenges of rare diseases?
Medical Writing
, 34
(1)
pp. 46-50.
10.56012/kwle5627.
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Mole, SE;
(2017)
The value of a comprehensive natural history in late infantile CLN5 disease.
Developmental Medicine and Child Neurology
, 59
(8)
pp. 777-778.
10.1111/dmcn.13472.
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Mole, SE;
Anderson, G;
Band, HA;
Berkovic, SF;
Cooper, JD;
Kleine Holthaus, S-M;
McKay, TR;
... Smith, AJ; + view all
(2019)
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.
[Review].
Lancet Neurology
, 18
(1)
pp. 107-116.
10.1016/S1474-4422(18)30368-5.
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MOLE, SE;
IGGO, RD;
LANE, DP;
(1989)
Using the polymerase chain-reaction to modify expression plasmids for epitope mapping.
Nucleic Acids Researc
, 17
(8)
3319 - 3319.
10.1093/nar/17.8.3319.
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Mole, SE;
Schulz, A;
Badoe, E;
Berkovic, SF;
de Los Reyes, EC;
Dulz, S;
Gissen, P;
... Williams, RE; + view all
(2021)
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
Orphanet Journal of Rare Diseases
, 16
(1)
p. 185.
10.1186/s13023-021-01813-5.
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Ofrim, Marisa;
Little, Daniel;
Nazari, Mina;
Minnis, Christopher J;
Devine, Michael J;
Mole, Sara E;
Gissen, Paul;
(2023)
Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations.
Stem Cell Research
, 74
, Article 103291. 10.1016/j.scr.2023.103291.
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Rahim, AA;
Russell, C;
Mole, SE;
(2020)
Special edition: The NCLs/Batten disease.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
, 1866
(9)
, Article 165824. 10.1016/j.bbadis.2020.165824.
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Relton, EL;
Roth, NJ;
Yasa, S;
Kaleem, A;
Hermey, G;
Minnis, CJ;
Mole, SE;
... Locker, N; + view all
(2023)
The Batten disease protein CLN3 is important for stress granules dynamics and translational activity.
Journal of Biological Chemistry
, 299
(5)
, Article 104649. 10.1016/j.jbc.2023.104649.
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Smith, KR;
Damiano, J;
Franceschetti, S;
Carpenter, S;
Canafoglia, L;
Morbin, M;
Rossi, G;
... Berkovic, SF; + view all
(2012)
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
The American Journal of Human Genetics
, 90
(6)
1102 - 1107.
10.1016/j.ajhg.2012.04.021.
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Soldati, C;
Lopez-Fabuel, I;
Wanderlingh, LG;
Garcia-Macia, M;
Monfregola, J;
Esposito, A;
Napolitano, G;
... Medina, DL; + view all
(2021)
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
EMBO Molecular Medicine
10.15252/emmm.202013742.
(In press).
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Thornton, CD;
Fielding, S;
Karbowniczek, K;
Roig-Merino, A;
Burrows, AE;
FitzPatrick, LM;
Sharaireh, A;
... McKay, TR; + view all
(2021)
Safe and stable generation of induced pluripotent stem cells using doggybone DNA vectors.
Molecular Therapy: Methods & Clinical Development
, 23
pp. 348-358.
10.1016/j.omtm.2021.09.018.
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Zhang, Hao-Yu;
Minnis, Christopher;
Gustavsson, Emil;
Ryten, Mina;
Mole, Sara E;
(2024)
CLN3 transcript complexity revealed by long-read RNA sequencing analysis.
BMC Medical Genomics
, 17
, Article 244. 10.1186/s12920-024-02017-z.
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Proceedings paper
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Kleine Holthaus, S-M;
Smith, AJ;
Mole, SE;
Ali, RR;
(2018)
Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses.
In:
Retinal Degenerative Diseases.
(pp. pp. 91-99).
Springer: Cham, Switzerland.
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Thesis
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Brown, RE;
(2016)
Identification of genetic interactions in a S. pombe yeast model for juvenile CLN3 disease.
Doctoral thesis , UCL (University College London).
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Marotta, D;
(2015)
Defining the role of the Golgi apparatus in juvenile NCL (Batten disease).
Doctoral thesis , UCL (University College London).
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Vieira, MCD;
(2015)
Towards therapy for Batten disease.
Doctoral thesis , UCL (University College London).
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