Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans. [PDF]
J PhysiolAbstract figure legend Potassium‐selective KV1.2 channels are encoded by the KCNA2 gene and regulate electrical signalling in neurons. KCNA2 genetic variants are associated with epileptic and developmental encephalopathy. We characterized two variants that subtly alter the channel's amino acid composition, p.H310D and p.G318D.
Boon PX +8 more
europepmc +2 more sources
Conkazal-M1 from the MKAVA family of conotoxins: A dual-function protease inhibitor and neuroactive peptide. [PDF]
Protein SciAbstract Marine cone snails produce a diverse array of bioactive peptides, known as conotoxins, in their venom. Given their high target potency and specificity, conotoxins are attractive compounds for the development of precision research tools and pharmacological agents.
Hackney CM +12 more
europepmc +2 more sources
CASPR2 Autoimmune Antibodies Induce Neuronal Hyperactivity in Human Brain Organoids. [PDF]
J NeurochemMaternal antibodies targeting CASPR2 are a known risk factor for neurodevelopmental disorders, yet their impact on early human brain development remains unclear. We modeled this exposure using human neural organoids treated with patient‐derived CASPR2 antibodies up to the age of 6 months.
Oliveira AR +15 more
europepmc +2 more sources
The M-Superfamily of Conotoxins: A Review [PDF]
, 2010 Throughout the world there exist both predator and prey. This distinction is apparent though sometimes misleading. Take for example marine snails of the genus Conus that are present across the oceans of the southern hemisphere [1].
Jacob, Reed B., McDougal, Owen M.
core +2 more sources
Sequence and function of the two P domain potassium channels: implications of an emerging superfamily. [PDF]
, 1998 A new superfamily of K+ channels has emerged in the past 2 years. Notable for possessing two pore-forming P domains in each subunit, members of the superfamily have been recognized through phylogeny from micro-organisms to humans. Four subfamilies of two
Goldstein, SA +3 more
core
Atypical reactive center Kunitz-type inhibitor from the sea anemone Heteractis crispa [PDF]
, 2012 The primary structure of a new Kunitz-type protease inhibitor InhVJ from the sea anemone Heteractis crispa (Radianthus macrodactylus) was determined by protein sequencing and cDNA cloning.
Anastyuk, S. +10 more
core +3 more sources
The Plant Genome, Volume 19, Issue 2, June 2026.Abstract Spot blotch (SB), caused by Bipolaris sorokiniana, is a major yield‐limiting disease of wheat (Triticum aestivum L.) in the warm, humid agroclimatic zones of South Asia. The development of resistant cultivars through molecular approaches offers a sustainable strategy for managing this disease.
Nikita Aggarwal +6 more
wiley +1 more source
A superfamily of small potassium channel subunits: form and function of the MinK-related peptides (MiRPs). [PDF]
, 1998 MinK and MinK-related peptide I (MiRPI) are integral membrane peptides with a single transmembrane span. These peptides are active only when co-assembled with pore-forming K+ channel subunits and yet their role in normal ion channel behaviour is ...
Abbott, GW, Goldstein, SA
core
Proton block of proton-activated TRPV1 current. [PDF]
, 2015 The TRPV1 cation channel is a polymodal nociceptor that is activated by heat and ligands such as capsaicin and is highly sensitive to changes in extracellular pH. In the body core, where temperature is usually stable and capsaicin is normally absent, H(+)
Lee, Bo Hyun, Zheng, Jie
core +1 more source
Ion channels: structural basis for function and disease. [PDF]
, 1996 Ion channels are ubiquitous proteins that mediate nervous and muscular function, rapid transmembrane signaling events, and ionic and fluid balance. The cloning of genes encoding ion channels has led to major strides in understanding the mechanistic basis
Goldstein, SA
core +1 more source