Stuart R Cobb
Overview
Explore the profile of Stuart R Cobb including associated specialties, affiliations and a list of published articles.
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30
Citations
707
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Recent Articles
1.
Gold W, Percy A, Neul J, Cobb S, Pozzo-Miller L, Issar J, et al.
Nat Rev Dis Primers
. 2024 Nov;
10(1):84.
PMID: 39511247
Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects predominantly females. In most cases, RTT is associated with pathogenic variants in MECP2. MeCP2, the protein product of MECP2,...
2.
Huang Y, Crick H, Chaytow H, van der Hoorn D, Alhindi A, Jones R, et al.
Mol Ther Nucleic Acids
. 2023 Aug;
33:617-628.
PMID: 37637210
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...
3.
Kim J, Bai Y, Jayne L, Hector R, Persaud A, Ong S, et al.
Nat Commun
. 2020 Apr;
11(1):1924.
PMID: 32317630
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,...
4.
5.
Hector R, Kalscheuer V, Hennig F, Leonard H, Downs J, Clarke A, et al.
Neurol Genet
. 2017 Dec;
3(6):e200.
PMID: 29264392
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...
6.
Tillotson R, Selfridge J, Koerner M, Gadalla K, Guy J, De Sousa D, et al.
Nature
. 2017 Oct;
550(7676):398-401.
PMID: 29019980
Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett syndrome. The methyl-CpG-binding protein 2 (MeCP2) protein is an epigenetic reader whose binding to chromatin primarily depends on...
7.
Bahey N, Gadalla K, McGonigal R, Bailey M, Edgar J, Cobb S
Neuroscience
. 2017 Jul;
358:261-268.
PMID: 28687309
Rett syndrome (RTT) is a neurological disorder characterized by motor and cognitive impairment, autonomic dysfunction and a loss of purposeful hand skills. In the majority of cases, typical RTT is...
8.
Gadalla K, Vudhironarit T, Hector R, Sinnett S, Bahey N, Bailey M, et al.
Mol Ther Methods Clin Dev
. 2017 May;
5:180-190.
PMID: 28497075
Rett syndrome (RTT), caused by loss-of-function mutations in the gene, is a neurological disorder characterized by severe impairment of motor and cognitive functions. The aim of this study was to...
9.
Sinnett S, Hector R, Gadalla K, Heindel C, Chen D, Zaric V, et al.
Mol Ther Methods Clin Dev
. 2017 May;
5:106-115.
PMID: 28497072
Intravenous administration of adeno-associated virus serotype 9 (AAV9)/ has been shown to extend the lifespan of mice, but this delivery route induces liver toxicity in wild-type (WT) mice. To reduce...
10.
Hector R, Dando O, Ritakari T, Kind P, Bailey M, Cobb S
Gene
. 2016 Dec;
603:21-26.
PMID: 27940108
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 9.7kb transcript comprised of...