Výsledky vyhledávání - "Ralph D, Hector"

Akademický článek

Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7

Autor: Yu-Ting Huang, Hannah R. Crick, Helena Chaytow, Dinja van der Hoorn, Abrar Alhindi, Ross A. Jones, Ralph D. Hector, Stuart R. Cobb, Thomas H. Gillingwater

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 617-628 (2023)

Neuromuscular junction (NMJ) dysfunction underlies several diseases, including congenital myasthenic syndromes (CMSs) and motor neuron disease (MND). Molecular pathways governing NMJ stability are therefore of interest from both biological and therap

Externí odkaz: https://doaj.org/article/144e9889a3c544119b067184d54902d8

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Akademický článek

A kinome-wide screen identifies a CDKL5-SOX9 regulatory axis in epithelial cell death and kidney injury

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)

Protein kinases have emerged as critical regulators of disease pathogenesis. Here, the authors have utilized kinome-wide screening approaches to reveal a pathogenic role of CDKL5 kinase in acute kidney injury, which is dependent on suppression of a S

Externí odkaz: https://doaj.org/article/f36413dcdc0f4c47bbdac00ac1a34b20

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Akademický článek

High-throughput RNA structure probing reveals critical folding events during early 60S ribosome assembly in yeast

Autor: Elena Burlacu, Fredrik Lackmann, Lisbeth-Carolina Aguilar, Sergey Belikov, Rob van Nues, Christian Trahan, Ralph D. Hector, Nicholas Dominelli-Whiteley, Scott L. Cockroft, Lars Wieslander, Marlene Oeffinger, Sander Granneman

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-14 (2017)

Ribosome biogenesis is a dynamic process that involves the ordered assembly of ribosomal proteins and numerous RNA structural rearrangements. Here the authors apply ChemModSeq, a high-throughput RNA structure probing method, to quantitatively measure

Externí odkaz: https://doaj.org/article/1da14d21505f4421859e388161a68673

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Akademický článek

Improved MECP2 Gene Therapy Extends the Survival of MeCP2-Null Mice without Apparent Toxicity after Intracisternal Delivery

Autor: Sarah E. Sinnett, Ralph D. Hector, Kamal K.E. Gadalla, Clifford Heindel, Daphne Chen, Violeta Zaric, Mark E.S. Bailey, Stuart R. Cobb, Steven J. Gray

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 5, Iss C, Pp 106-115 (2017)

Intravenous administration of adeno-associated virus serotype 9 (AAV9)/hMECP2 has been shown to extend the lifespan of Mecp2−/y mice, but this delivery route induces liver toxicity in wild-type (WT) mice. To reduce peripheral transgene expression,

Externí odkaz: https://doaj.org/article/4e66309230e84338a6ba9fd000c7402a

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Akademický článek

Development of a Novel AAV Gene Therapy Cassette with Improved Safety Features and Efficacy in a Mouse Model of Rett Syndrome

Autor: Kamal K.E. Gadalla, Thishnapha Vudhironarit, Ralph D. Hector, Sarah Sinnett, Noha G. Bahey, Mark E.S. Bailey, Steven J. Gray, Stuart R. Cobb

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 5, Iss C, Pp 180-190 (2017)

Rett syndrome (RTT), caused by loss-of-function mutations in the MECP2 gene, is a neurological disorder characterized by severe impairment of motor and cognitive functions. The aim of this study was to investigate the impact of vector design, dosage,

Externí odkaz: https://doaj.org/article/c7439aa4d23147af8550aac8afe957c5

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Akademický článek

Molecular Characterisation of Equine Herpesvirus 1 Isolates from Cases of Abortion, Respiratory and Neurological Disease in Ireland between 1990 and 2017

Autor: Marie Garvey, Rachel Lyons, Ralph D Hector, Cathal Walsh, Sean Arkins, Ann Cullinane

Publikováno v: Pathogens, Vol 8, Iss 1, p 7 (2019)

Multiple locus typing based on sequencing heterologous regions in 26 open reading frames (ORFs) of equine herpesvirus 1 (EHV-1) strains Ab4 and V592 was used to characterise 272 EHV-1 isolates from 238 outbreaks of abortion, respiratory or neurologic

Externí odkaz: https://doaj.org/article/0fe850dee1f249d4a107ce33709f3866

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Akademický článek

Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.

Autor: Ralph D Hector, Owen Dando, Nicoletta Landsberger, Charlotte Kilstrup-Nielsen, Peter C Kind, Mark E S Bailey, Stuart R Cobb

Publikováno v: PLoS ONE, Vol 11, Iss 6, p e0157758 (2016)

Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5) cause early onset infantile spasms and subsequent severe developmental delay in affected children. Deleterious mutations have been reported to occur throughout the CDKL5 coding reg

Externí odkaz: https://doaj.org/article/9a584d0583cf4017904a95080225be63

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A kinome-wide screen identifies a CDKL5-SOX9 regulatory axis in epithelial cell death and kidney injury

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Kim, J Y, Bai, Y, Jayne, L A, Hector, R, Persaud, A K, Ong, S S, Rojesh, S, Feng, M J H H, Chung, S, Cianciolo, R E, Christman, J W, Campbell, M J, Gardner, D S, Baker, S D, Sparreboom, A, Govindarajan, R, Singh, H, Chen, T, Po, M, Susztak, K, Cobb, S & Pabla, N S 2020, ' A Kinome-wide screen identifies a CDKL5-SOX9 regulatory axis in epithelial cell death and kidney injury ', Nature Communications . https://doi.org/10.1038/s41467-020-15638-6

Renal tubular epithelial cells (RTECs) perform the essential function of maintaining the constancy of body fluid composition and volume. Toxic, inflammatory, or hypoxic-insults to RTECs can cause systemic fluid imbalance, electrolyte abnormalities an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf5c57fa795f052eac079df1d6607f67
https://doaj.org/article/f36413dcdc0f4c47bbdac00ac1a34b20

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Radically truncated MeCP2 rescues Rett syndrome-like neurological defects

Autor: Jim Selfridge, Martha V. Koerner, Stuart Cobb, Ralph D. Hector, Adrian Bird, Kamal K.E. Gadalla, Diana De Sousa, Rebekah Tillotson, Jacky Guy

Publikováno v: Tillotson, R, Selfridge, J, Koerner, M V, Gadalla, K K E, Guy, J, Sousa, D D, Hector, R D, Cobb, S R & Bird, A 2017, ' Radically truncated MeCP2 rescues Rett syndrome-like neurological defects ', Nature, vol. 550, pp. 398-401 . https://doi.org/10.1038/nature24058
Nature

Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett syndrome1. The methyl-CpG-binding protein 2 (MeCP2) protein is an epigenetic reader whose binding to chromatin primarily depends on 5-methylcytosine2, 3. Functiona

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8baa1c6db53ce914041a3565714eceed
https://doi.org/10.1038/nature24058

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Characterisation of Cdkl5 transcript isoforms in rat

Autor: Stuart Cobb, Owen Dando, Peter C. Kind, Tuula E. Ritakari, Ralph D. Hector, Mark E.S. Bailey

Publikováno v: Hector, R D, Dando, O, Ritakari, T E, Kind, P C, Bailey, M E S & Cobb, S R 2017, ' Characterisation of Cdkl5transcript isoforms in rat ', Gene, vol. 603, pp. 21-26 . https://doi.org/10.1016/j.gene.2016.12.001

CDKL5 deficiency is a severe neurological disorder caused by mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5). The predominant human CDKL5 brain isoform is a 9.7 kb transcript comprised of 18 exons with a large 6.6 kb 3′-untran

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a46c06c8a30e957b4bda8b5401c5260
https://doi.org/10.1016/j.gene.2016.12.001

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