A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Cell Science"
DOI: 10.1242/jcs.259013
Abstract: ABSTRACT Mutations in the PKD2 gene cause autosomal-dominant polycystic kidney disease but the physiological role of polycystin-2, the protein product of PKD2, remains elusive. Polycystin-2 belongs to the transient receptor potential (TRP) family of non-selective… read more here.
Keywords: polycystin protein; channel; polycystin; channel properties ... See more keywords
AMPAR/TARP stoichiometry differentially modulates channel properties
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DOI: 10.7554/elife.53946
Abstract: AMPARs control fast synaptic communication between neurons and their function relies on auxiliary subunits, which importantly modulate channel properties. Although it has been suggested that AMPARs can bind to TARPs with variable stoichiometry, little is… read more here.
Keywords: stoichiometry differentially; channel properties; tarp stoichiometry; ampar tarp ... See more keywords
BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models
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DOI: 10.7554/elife.77953
Abstract: KCNMA1 forms the pore of BK K+ channels, which regulate neuronal and muscle excitability. Recently, genetic screening identified heterozygous KCNMA1 variants in a subset of patients with debilitating paroxysmal non-kinesigenic dyskinesia, presenting with or without… read more here.
Keywords: channel properties; severity three; mice; three kcnma1 ... See more keywords