Sodium channelopathies in neurodevelopmental disorders
The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …
Plant cyclophilins: Multifaceted proteins with versatile roles
Cyclophilins constitute a family of ubiquitous proteins that bind cyclosporin A (CsA), an
immunosuppressant drug. Several of these proteins possess peptidyl-prolyl cis-trans …
immunosuppressant drug. Several of these proteins possess peptidyl-prolyl cis-trans …
Structure of the activated human minor spliceosome
INTRODUCTION Precursor messenger RNA (pre-mRNA) splicing, which involves the
removal of noncoding introns and the ligation of the coding exons, is achieved by the …
removal of noncoding introns and the ligation of the coding exons, is achieved by the …
Duplication of 7q34 in pediatric low‐grade astrocytomas detected by high‐density single‐nucleotide polymorphism‐based genotype arrays results in a novel BRAF …
In the present study, DNA from 28 pediatric low‐grade astrocytomas was analyzed using
Illumina HumanHap550K single‐nucleotide polymorphism oligonucleotide arrays. A novel …
Illumina HumanHap550K single‐nucleotide polymorphism oligonucleotide arrays. A novel …
Minor intron splicing is regulated by FUS and affected by ALS‐associated FUS mutants
S Reber, J Stettler, G Filosa, M Colombo, D Jutzi… - The EMBO …, 2016 - embopress.org
Fused in sarcoma (FUS) is a ubiquitously expressed RNA‐binding protein proposed to
function in various RNA metabolic pathways, including transcription regulation, pre‐mRNA …
function in various RNA metabolic pathways, including transcription regulation, pre‐mRNA …
Genes and gene expression modules associated with caloric restriction and aging in the laboratory mouse
WR Swindell - BMC genomics, 2009 - Springer
Background Caloric restriction (CR) counters deleterious effects of aging and, for most
mouse genotypes, increases mean and maximum lifespan. Previous analyses of microarray …
mouse genotypes, increases mean and maximum lifespan. Previous analyses of microarray …
[HTML][HTML] Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms
NJ Daniels, CE Hershberger, X Gu, C Schueger… - Cell reports, 2021 - cell.com
Vertebrates have evolved three paralogs, termed LUC7L, LUC7L2, and LUC7L3, of the
essential yeast U1 small nuclear RNA (snRNA)-associated splicing factor Luc7p. We …
essential yeast U1 small nuclear RNA (snRNA)-associated splicing factor Luc7p. We …
RNA-binding proteins with basic-acidic dipeptide (BAD) domains self-assemble and aggregate in Alzheimer's disease
The U1 small nuclear ribonucleoprotein 70 kDa (U1-70K) and other RNA-binding proteins
(RBPs) are mislocalized to cytoplasmic neurofibrillary Tau aggregates in Alzheimer's …
(RBPs) are mislocalized to cytoplasmic neurofibrillary Tau aggregates in Alzheimer's …
Tyramide signal amplification mass spectrometry (TSA-MS) ratio identifies nuclear speckle proteins
J Dopie, MJ Sweredoski, A Moradian… - Journal of Cell …, 2020 - rupress.org
We present a simple ratio method to infer protein composition within cellular structures using
proximity labeling approaches but compensating for the diffusion of free radicals. We used …
proximity labeling approaches but compensating for the diffusion of free radicals. We used …
A sodium channel gene SCN9A polymorphism that increases nociceptor excitability
M Estacion, TP Harty, JS Choi, L Tyrrell… - Annals of Neurology …, 2009 - Wiley Online Library
Abstract Sodium channel NaV1. 7, encoded by the SCN9A gene, is preferentially expressed
in nociceptive primary sensory neurons, where it amplifies small depolarizations. In studies …
in nociceptive primary sensory neurons, where it amplifies small depolarizations. In studies …