Items where authors include "Azzouz, M."

Article

Castelli, L.M., Lin, Y.-H., Sanchez-Martinez, A. et al. (19 more authors) (2023) A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins. Science Translational Medicine, 15 (685). ISSN 1946-6234

Hudák, A., Roach, M., Pusztai, D. et al. (5 more authors) (2023) Syndecan-4 mediates the cellular entry of adeno-associated virus 9. International Journal of Molecular Sciences, 24 (4). 3141. ISSN 1661-6596

Almaghrabi, S., Lovewell, T., Azzouz, M. et al. (1 more author) (2023) Characterisation of APS-1 experimental models is crucial for development of novel therapies. BioMed Research International, 2023. pp. 1-12. ISSN 2314-6133

Scarrott, J.M. orcid.org/0000-0002-6046-7687, Alves-Cruzeiro, J., Marchi, P.M. et al. (7 more authors) (2023) Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47 displays motor dysfunction, aberrant brain morphology and ATG9A mislocalization. Brain Communications, 5 (1). fcac335.

Bauer, C.S., Webster, C.P., Shaw, A.C. et al. (12 more authors) (2022) Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation. Frontiers in Cellular Neuroscience, 16. 1061559. ISSN 1662-5102

Marchi, P.M. orcid.org/0000-0002-8893-3790, Marrone, L., Brasseur, L. et al. (19 more authors) (2022) C9ORF72-derived poly-GA DPRs undergo endocytic uptake in iAstrocytes and spread to motor neurons. Life Science Alliance, 5 (9). e202101276. ISSN 2575-1077

Marrone, L., Marchi, P.M. orcid.org/0000-0002-8893-3790, Webster, C.P. orcid.org/0000-0003-4197-2036 et al. (11 more authors) (2022) SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction. Human Molecular Genetics, 31 (16). pp. 2693-2710. ISSN 0964-6906

Karyka, E., Berrueta Ramirez, N., Webster, C.P. orcid.org/0000-0003-4197-2036 et al. (11 more authors) (2022) SMN-deficient cells exhibit increased ribosomal DNA damage. Life Science Alliance, 5 (8). e202101145. ISSN 2575-1077

Han, Y., King, M., Tikhomirov, E. et al. (8 more authors) (2022) Towards 3D bioprinted spinal cord organoids. International Journal of Molecular Sciences, 23 (10). 5788. ISSN 1661-6596

Schmidt, N.A., Giblin, J., MacLachlan, T.K. et al. (9 more authors) (2022) Current global regulatory landscape for biodistribution & shedding assessment of rAAV gene therapies & recommendations of the IMI ARDAT consortium on future directions. Cell and Gene Therapy Insights, 8 (3). pp. 377-394. ISSN 2059-7800

Marrone, L., Marchi, P.M. orcid.org/0000-0002-8893-3790 and Azzouz, M. orcid.org/0000-0001-6564-5967 (2022) Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders. Expert Opinion on Biological Therapy, 22 (9). pp. 1163-1176. ISSN 1471-2598

Benson, B.C., Shaw, P.J. orcid.org/0000-0002-8925-2567, Azzouz, M. orcid.org/0000-0001-6564-5967 et al. (2 more authors) (2021) Proteinopathies as hallmarks of impaired gene expression, proteostasis and mitochondrial function in amyotrophic lateral sclerosis. Frontiers in Neuroscience, 15. 783624.

Castelli, L.M., Cutillo, L., Souza, C.D.S. et al. (14 more authors) (2021) SRSF1-dependent inhibition of C9ORF72-repeat RNA nuclear export : genome-wide mechanisms for neuroprotection in amyotrophic lateral sclerosis. Molecular Neurodegeneration, 16 (1). 53.

Gatto, N., Dos Santos Souza, C., Shaw, A.C. et al. (12 more authors) (2021) Directly converted astrocytes retain the ageing features of the donor fibroblasts and elucidate the astrocytic contribution to human CNS health and disease. Aging Cell, 20 (1). e13281. ISSN 1474-9718

Crooks, L., Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Heath, P.R. et al. (8 more authors) (2020) Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing. BMC Genetics, 21 (1). 111.

Franklin, J.P., Azzouz, M. and Shaw, P.J. orcid.org/0000-0002-8925-2567 (2020) SOD1-targeting therapies for neurodegenerative diseases : a review of current findings and future potential. Expert Opinion on Orphan Drugs, 8 (10). pp. 379-392. ISSN 2167-8707

Almaghrabi, S., Azzouz, M. and Tazi Ahnini, R. (2020) AAV9‐mediated AIRE gene delivery clears circulating antibodies and tissue T‐cell infiltration in a mouse model of autoimmune polyglandular syndrome type‐1. Clinical & Translational Immunology, 9. e1166. ISSN 2050-0068

Alves-Cruzeiro, J., Webster, C.P. and Azzouz, M. orcid.org/0000-0001-6564-5967 (2019) The hybrid AAVP tool gets an upgrade. Proceedings of the National Academy of Sciences, 116 (37). pp. 18162-18164. ISSN 0027-8424

Iannitti, T., Scarrott, J., Likhite, S. et al. (12 more authors) (2018) Translating SOD1 gene silencing towards the clinic: A highly efficacious, off-target free and biomarker-supported strategy for familial ALS. Molecular Therapy : Nucleic Acids, 12. pp. 75-88. ISSN 2162-2531

Lovewell, T., McDonagh, A., Messenger, A. et al. (2 more authors) (2018) Meta-analysis of autoimmune regulator-regulated genes in human and murine models: a novel human model provides insights on the role of autoimmune regulator in regulating STAT1 and STAT1-regulated genes. Frontiers in Immunology, 9. 1380. ISSN 1664-3224

Alrafiah, A., Karyka, E., Coldicott, I. et al. (4 more authors) (2018) Plastin 3 Promotes Motor Neuron Axonal Growth and Extends Survival in a Mouse Model of Spinal Muscular Atrophy. Molecular Therapy - Methods and Clinical Development, 9. pp. 81-89. ISSN 2329-0501

Castelli, L.M., Lin, Y.H., Ferraiuolo, L. et al. (6 more authors) (2018) SRSF1-dependent nuclear export of C9ORF72 repeat-transcripts: targeting toxic gain-of-functions induced by protein sequestration as a selective therapeutic strategy for neuroprotection. Therapeutic Targets for Neurological Diseases, 4. e1619. ISSN 2376-0478

Chandran, J.S., Sharp, P.S., Karyka, E. et al. (6 more authors) (2017) Site specific modification of adeno-associated virus enables both fluorescent imaging of viral particles and characterization of the capsid interactome. Scientific Reports, 7. 14766. ISSN 2045-2322

Walker, C., Herranz-Martin, S., Karyka, E. et al. (19 more authors) (2017) C9orf72 Expansion Disrupts ATM-mediated Chromosomal Break Repair. Nature Neuroscience, 20 (9). pp. 1225-1235. ISSN 1097-6256

Hautbergue, G.M. orcid.org/0000-0002-1621-261X, Castelli, L.M., Ferraiuolo, L. et al. (23 more authors) (2017) SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits. Nature Communications, 8. 16063 (2017).

Herranz-Martin, S., Chandran, J. orcid.org/0000-0002-3486-8583, Lewis, K. et al. (12 more authors) (2017) Viral delivery of C9ORF72 hexanucleotide repeat expansions in mice lead to repeat length dependent neuropathology and behavioral deficits. Disease Models and Mechanisms. ISSN 1754-8403

Stopford, M.J., Higginbottom, A., Hautbergue, G.M. et al. (14 more authors) (2017) C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten. Human Molecular Genetics, 26 (6). pp. 1133-1145. ISSN 0964-6906

Lukashchuk, V., Lewis, K., Coldicott, I. et al. (2 more authors) (2016) AAV9-mediated central nervous system-targeted gene delivery via cisterna magna route in mice. Molecular Therapy — Methods & Clinical Development, 2016 (3). 15055.

Alsomali, N., Seytanoglu, A., Valori, C. et al. (6 more authors) (2016) Deficiency in the mRNA export mediator Gle1 impairs Schwann cell development in the zebrafish embryo. Neuroscience, 322. pp. 287-297. ISSN 0306-4522

Lukashchuk, V., Lewis, K.E., Coldicott, I. et al. (2 more authors) (2016) AAV9-mediated central nervous system-targeted gene delivery via cisterna magna route in mice. Molecular Therapy - Methods and Clinical Development, 3. 15055. ISSN 2329-0501

Powis, R.A, Karyka, E., Boyd, P. et al. (13 more authors) (2016) Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy. JCI Insight, 1 (11). e87908. ISSN 2379-3708

Sharp, P.S., Shaw, K., Boorman, L. et al. (4 more authors) (2015) Comparison of stimulus-evoked cerebral hemodynamics in the awake mouse and under a novel anesthetic regime. Scientific Reports, 5. ISSN 2045-2322

Sharp, P., Shaw, K., Boorman, L. et al. (4 more authors) (2015) Comparison of stimulus-evoked cerebral hemodynamics in the awake mouse and under a novel anesthetic regime. Scientific Reports, 5. 12621 . ISSN 2045-2322

Tian, X., Nyberg, S., Sharp, P.S. et al. (8 more authors) (2015) LRP-1-mediated intracellular antibody delivery to the Central Nervous System. Scientific Reports, 5. 11990. ISSN 2045-2322

Lovewell, T.R.J., McDonagh, A.J., Messenger, A.G. et al. (2 more authors) (2015) The AIRE-230Y Polymorphism Affects AIRE Transcriptional Activity: Potential Influence on AIRE Function in the Thymus. PLoS ONE, 10 (5). e0127476. ISSN 1932-6203

Scarrott, J.M., Herranz-Martín, S., Alrafiah, A.R. et al. (2 more authors) (2015) Current developments in gene therapy for amyotrophic lateral sclerosis. Expert Opinion on Biological Therapy.

Little, D., Valori, C.F., Mutsaers, C.A. et al. (7 more authors) (2015) PTEN Depletion Decreases Disease Severity and Modestly Prolongs Survival in a Mouse Model of Spinal Muscular Atrophy. Molecular Therapy, 23 (2). 270 - 277.

Bennett, E.J., Mead, R.J., Azzouz, M. et al. (2 more authors) (2014) Early Detection of Motor Dysfunction in the SOD1(G93A) Mouse Model of Amyotrophic Lateral Sclerosis (ALS) Using Home Cage Running Wheels. PLOS ONE, 9 (9). e107918. ISSN 1932-6203

Yang, D-J., Wang, X-L., Ismail, A. et al. (10 more authors) (2014) PTEN regulates AMPA receptor-mediated cell viability in iPS-derived motor neurons. Cell Death and Disease, 5. e1096. ISSN 2041-4889

Kirby, J., Ning, K., Ferraiuolo, L. et al. (10 more authors) (2011) Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis. Brain, 134 (2). pp. 506-517. ISSN 0006-8950

Book Section

Chandran, J.S., Scarrott, J.M., Shaw, P.J. orcid.org/0000-0002-8925-2567 et al. (1 more author) (2017) Gene Therapy in the Nervous System: Failures and Successes. In: Personalised Medicine. Advances in Experimental Medicine and Biology (1007). , pp. 241-257. ISBN 978-3-319-60731-3

Proceedings Paper

Iannitti, T., Scarrot, J.M., Coldicott, I.R.P. et al. (4 more authors) (2016) Gene Therapy for Familial ALS Using AAV9 Mediated Silencing of Mutant SOD1. In: Human Gene Therapy. British Society for Gene and Cell Therapy Annual Conference, 15th April 2016, University College London Institute of Child Health. Mary Ann Liebert Inc , A12-A12.

Chandran, J., Sharp, P., Collins, M. orcid.org/0000-0002-7656-4975 et al. (1 more author) (2016) Site specific labelling of adeno-associated virus identifies targets for enhancing viral transduction efficiency. In: Human Gene Therapy. British Society for Gene and Cell Therapy Annual Conference, 15 Jun 2016, London, UK. Mary Ann Liebert , A14-A14.