Ralph D. Hector

Neonatal expression of human FMRP isoform corrects cortical deficits and improves behavior in a mouse model of fragile X syndrome

Anna O. Norman, Courtney Scaramella, Dominik Biezonski, Ralph D. Hector et autres

isoform 7 ameliorates cortical dysfunction and behavioral deficits in a murine FXS model and suggests that widespread cortical biodistribution is required for therapeutic benefit.

us, gb (code pays fourni par la source)

Self-regulating gene therapy ameliorates phenotypes and overcomes gene dosage sensitivity in a mouse model of Rett syndrome

Paul D. Ross, Kamal K.E. Gadalla, Sophie R. Thomson, Jim Selfridge et autres

Conventional methods of gene transfer lead to inconsistent transgene expression within cells. This variability can be problematic, particularly in conditions like Rett syndrome (RTT), a neurological disorder caused by mutations in the MECP2 (methyl-CpG binding protein 2) gene, because overexpression of MECP2 …

gb, us (code pays fourni par la source)

Deletions in the CDKL5 5′ untranslated region lead to CDKL5 deficiency disorder

Isabel Haviland, Ralph D. Hector, Lindsay C. Swanson, Aubrie Soucy Verran et autres

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. Deletions affecting the 5' untranslated region (UTR) of CDKL5, which involve the noncoding exon 1 and/or alternatively spliced first …

us, gb, ca, au, it (code pays fourni par la source)

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

Yuting Huang, Hannah R. Crick, Helena Chaytow, Dinja van der Hoorn et autres

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 therapeutic perspectives. Muscle-specific kinase (MuSK) is necessary for the formation and maintenance …

gb, sa (code pays fourni par la source)

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

JY Kim, Yuntao Bai, Laura A. Jayne, Ralph D. Hector et autres

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 and metabolic waste accumulation- manifesting as acute kidney injury (AKI), …

us, gb (code pays fourni par la source)

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

Steven James Gray, Ralph D. Hector, Mark E.S. Bailey, Kamal K.E. Gadalla et autres

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 and delivery route on …

us, fr (code pays fourni par la source)

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

Marie B. Garvey, Rachel Lyons, Ralph D. Hector, Cathal Walsh et autres

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 neurological disease over a 28-year …

ie, gb (code pays fourni par la source)

Use of Augmented Reality in Teaching the Central Dogma of Genetics

Shona A. McQuilken, Jennifer Smith, Ralph D. Hector

The use of augmented reality (AR) in teaching has a number of benefits. In genetics, complex concepts can be difficult to visualise, but AR can be used to bring them to life. It can also enhance understanding by allowing 3D visualisation of …

Equid herpesvirus 8: Complete genome sequence and association with abortion in mares

Marie B. Garvey, Nicolás M. Suárez, Karen Kerr, Ralph D. Hector et autres

Equid herpesvirus 8 (EHV-8), formerly known as asinine herpesvirus 3, is an alphaherpesvirus that is closely related to equid herpesviruses 1 and 9 (EHV-1 and EHV-9). The pathogenesis of EHV-8 is relatively little studied and to date has only been associated with …

ie, gb (code pays fourni par la source)

CDKL5 variants

Ralph D. Hector, Vera M. Kalscheuer, Friederike Hennig, Helen Leonard et autres

Objective: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. Methods: We analyzed all known potentially pathogenic CDKL5 variants …

au (code pays fourni par la source)

Radically truncated MeCP2 rescues Rett syndrome-like neurological defects

Rebekah Tillotson, Jim Selfridge, Martha V. Koerner, Kamal K.E. Gadalla et autres

gb, Égypte (code pays fourni par la source)

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

Elena Burlacu, Fredrik Lackmann, Lisbeth C. Aguilar, Sergey V. Belikov et autres

While the protein composition of various yeast 60S ribosomal subunit assembly intermediates has been studied in detail, little is known about ribosomal RNA (rRNA) structural rearrangements that take place during early 60S assembly steps. Using a high-throughput RNA structure probing method, we …

gb, se, ca (code pays fourni par la source)