Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects
…, JE O'brien, LM Sharkey - The Journal of physiology, 2010 - Wiley Online Library
… Janelle O’Brien, a graduate student in Human Genetics, and Lisa Sharkey, a
neuroscientist and postdoctoral fellow, are studying mutations of SCN8A in the Meisler lab.] …
neuroscientist and postdoctoral fellow, are studying mutations of SCN8A in the Meisler lab.] …
Optimising delivery of care in coeliac disease–comparison of the benefits of repeat biopsy and serological follow‐up
LM Sharkey, G Corbett, E Currie, J Lee… - Alimentary …, 2013 - Wiley Online Library
Background The majority of deleterious health consequences of coeliac disease ( CD ) are
most likely to be secondary to intestinal inflammation; hence, mucosal recovery is a desirable …
most likely to be secondary to intestinal inflammation; hence, mucosal recovery is a desirable …
Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice
…, B Beyer, JM Jones, LM Sharkey… - Human molecular …, 2009 - academic.oup.com
In a chemical mutagenesis screen, we identified the novel Scn8a 8J allele of the gene encoding
the neuronal voltage-gated sodium channel Na v 1.6. The missense mutation V929F in …
the neuronal voltage-gated sodium channel Na v 1.6. The missense mutation V929F in …
The relative amount of cRNA coding for γ2 subunits affects stimulation by benzodiazepines in GABAA receptors expressed in Xenopus oocytes
AJ Boileau, R Baur, LM Sharkey, E Sigel… - …, 2002 - Elsevier
Benzodiazepine (BZD) potentiation of GABA-activated Cl − -current (I GABA ) in recombinant
GABA A receptors requires the presence of the γ subunit. When α1, β2 and γ2S cRNA are …
GABA A receptors requires the presence of the γ subunit. When α1, β2 and γ2S cRNA are …
Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly
LM Sharkey, N Safren, AS Pithadia… - Proceedings of the …, 2018 - National Acad Sciences
UBQLN2 is one of a family of proteins implicated in ubiquitin-dependent protein quality
control and integrally tied to human neurodegenerative disease. Whereas wild-type UBQLN2 …
control and integrally tied to human neurodegenerative disease. Whereas wild-type UBQLN2 …
[HTML][HTML] Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity
… Please contact corresponding author Lisa M Sharkey for data or resource requests. …
Sharkey, LM et al. Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly. Proc. …
Sharkey, LM et al. Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly. Proc. …
[HTML][HTML] Modeling UBQLN2-mediated neurodegenerative disease in mice: Shared and divergent properties of wild type and mutant UBQLN2 in phase separation …
LM Sharkey, SS Sandoval-Pistorius, SJ Moore… - Neurobiology of …, 2020 - Elsevier
The ubiquitin-binding proteasomal shuttle protein UBQLN2 is implicated in common
neurodegenerative disorders due to its accumulation in disease-specific aggregates and, when …
neurodegenerative disorders due to its accumulation in disease-specific aggregates and, when …
The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Nav1. 6 disrupts intracellular trafficking
LM Sharkey, X Cheng, V Drews… - Journal of …, 2009 - Soc Neuroscience
The ENU-induced neurological mutant ataxia3 was mapped to distal mouse chromosome
15. Sequencing of the positional candidate gene Scn8a encoding the sodium channel Na v …
15. Sequencing of the positional candidate gene Scn8a encoding the sodium channel Na v …
Intestinal transplantation: an update
LM Sharkey, NK Russell - Current Opinion in Gastroenterology, 2023 - journals.lww.com
… Sharkey, Box 133, Cambridge University Hospitals NHS Foundation Trust, Hills Road,
Cambridge, UK. Tel: +44 1223 254650; e-mail: [email protected] … Woodward JM, Massey …
Cambridge, UK. Tel: +44 1223 254650; e-mail: [email protected] … Woodward JM, Massey …
[HTML][HTML] Interaction of voltage-gated sodium channel Nav1. 6 (SCN8A) with microtubule-associated protein Map1b
JE O'Brien, LM Sharkey, CN Vallianatos, C Han… - Journal of Biological …, 2012 - ASBMB
The mechanism by which voltage-gated sodium channels are trafficked to the surface of
neurons is not well understood. Our previous work implicated the cytoplasmic N terminus of the …
neurons is not well understood. Our previous work implicated the cytoplasmic N terminus of the …