Browse by UCL people
Group by: Type | Date
Number of items: 18.
Article
Di Donfrancesco, A;
Berlingieri, C;
Giacomello, M;
Frascarelli, C;
Magalhaes Rebelo, AP;
Bindoff, LA;
Reeval, S;
... Brunetti, D; + view all
(2023)
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients.
Frontiers in Pharmacology
, 14
, Article 1220620. 10.3389/fphar.2023.1220620.
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Di Donfrancesco, Alessia;
Massaro, Giulia;
Di Meo, Ivano;
Tiranti, Valeria;
Bottani, Emanuela;
Brunetti, Dario;
(2022)
Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective.
Pharmaceutics
, 14
(6)
, Article 1287. 10.3390/pharmaceutics14061287.
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Geard, AF;
Massaro, G;
Hughes, MP;
Arbuthnot, P;
Waddington, SN;
Rahim, AA;
(2025)
Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy.
Pharmaceutics
, 17
(5)
, Article 650. 10.3390/pharmaceutics17050650.
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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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Howe, Geoffrey;
Bal, Mehtap;
Wasmuth, Matthew;
Massaro, G;
Rahim, Ahad;
Ali, Sadfer;
Rivera, Milena;
... Nesbeth, Darren; + view all
(2024)
An autonucleolytic suspension HEK293F host cell line for high-titre serum-free AAV5 and AAV9 production with reduced levels of DNA impurity.
Molecular Therapy - Methods and Clinical Development
, Article 101317. 10.1016/j.omtm.2024.101317.
(In press).
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Hughes, Michael Paul;
Nelvagal, Hemanth Ramesh;
Coombe-Tennant, Oliver;
Smith, Dave;
Smith, Claire;
Massaro, Giulia;
Poupon-Bejuit, Laura;
... Rahim, Ahad Abdul; + view all
(2023)
A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann–Pick Type C1 Disease.
Cells
, 12
(12)
, Article 1619. 10.3390/cells12121619.
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Hughes, MP;
Smith, DA;
Morris, L;
Fletcher, C;
Colaco, A;
Huebecker, M;
Tordo, J;
... Rahim, AA; + view all
(2018)
AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease.
Human Molecular Genetics
, 27
(17)
pp. 3079-3098.
10.1093/hmg/ddy212.
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Karda, R;
Buckley, SM;
Mattar, CN;
Ng, J;
Massaro, G;
Hughes, MP;
Kurian, MA;
... Rahim, AA; + view all
(2014)
Perinatal systemic gene delivery using adeno-associated viral vectors.
Front Mol Neurosci
, 7
, Article 89. 10.3389/fnmol.2014.00089.
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Massaro, Giulia;
Geard, Amy F;
Nelvagal, Hemanth R;
Gore, Katrina;
Clemo, Nadine K;
Waddington, Simon N;
Rahim, Ahad A;
(2024)
Comparison of different promoters to improve AAV vector-mediated gene therapy for neuronopathic Gaucher disease.
Human Molecular Genetics
, Article ddae081. 10.1093/hmg/ddae081.
(In press).
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Massaro, G;
Geard, AF;
Liu, W;
Coombe-Tennant, O;
Waddington, SN;
Baruteau, J;
Gissen, P;
(2021)
Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development.
Biomolecules
, 11
(4)
, Article 611. 10.3390/biom11040611.
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Massaro, G;
Hughes, MP;
Whaler, SM;
Wallom, K-L;
Priestman, DA;
Platt, FM;
Waddington, SN;
(2020)
Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes.
Human Molecular Genetics
10.1093/hmg/ddz317.
(In press).
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Massaro, G;
Mattar, CNZ;
Wong, AMS;
Sirka, E;
Buckley, SMK;
Herbert, BR;
Karlsson, S;
... Rahim, AA; + view all
(2018)
Fetal gene therapy for neurodegenerative disease of infants.
Nature Medicine
, 24
pp. 1317-1323.
10.1038/s41591-018-0106-7.
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Plotegher, N;
Perocheau, D;
Ferrazza, R;
Massaro, G;
Bhosale, G;
Zambon, F;
Rahim, AA;
... Duchen, MR; + view all
(2020)
Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload.
Cell Death & Differentiation
, 27
pp. 1588-1603.
10.1038/s41418-019-0442-2.
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Poupon-Bejuit, L;
Hughes, MP;
Liu, W;
Geard, A;
Faour-Slika, N;
Whaler, S;
Massaro, G;
(2022)
A GLP1 receptor agonist diabetes drug ameliorates neurodegeneration in a mouse model of infantile neurometabolic disease.
Scientific Reports
, 12
(1)
, Article 13825. 10.1038/s41598-022-17338-1.
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Snowball, A;
Chabrol, E;
Wykes, RC;
Shekh-Ahmad, T;
Cornford, JH;
Lieb, A;
Hughes, MP;
... Schorge, S; + view all
(2019)
Epilepsy Gene Therapy Using an Engineered Potassium Channel.
Journal of Neuroscience
, 39
(16)
pp. 3159-3169.
10.1523/JNEUROSCI.1143-18.2019.
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Vardi, A;
Zigdon, H;
Meshcheriakova, A;
Klein, AD;
Yaacobi, C;
Eilam, R;
Kenwood, BM;
... Futerman, AH; + view all
(2016)
Delineating pathological pathways in a chemically-induced mouse model of Gaucher disease.
The Journal of Pathology
, 239
(4)
pp. 496-509.
10.1002/path.4751.
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Zwi-Dantsis, Limor;
Mohamed, Saira;
Massaro, Giulia;
Moeendarbary, Emad;
(2025)
Adeno-Associated Virus Vectors: Principles, Practices, and Prospects in Gene Therapy.
Viruses
, 17
(2)
, Article 239. 10.3390/v17020239.
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Thesis
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Massaro, Giulia;
(2018)
Intravenously administered gene therapy for neuronopathic Gaucher disease.
Doctoral thesis (Ph.D), UCL (University College London).
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