BEST1 autosomal dominant loss-of-function mutations surprisingly behave in a dominant-negative manner, whereas gain-of-function mutations exhibit a strong dominant effect that necessitates CRISPR/Cas9-mediated suppression of the endogenous mutant allele in gene therapy.
Six- to twelve-month old infants, who have little linguistic or object experience, classify objects by relying on a invariant representation of global shape known as the shape skeleton.
Endothelial Differentiation Factor 1 (EDF1) plays a critical role in driving mRNA-specific quality control and global transcriptional responses in response to ribosome collisions.
A multidisciplinary platform featured by patient-derived RPEs is established to study the disease-causing mechanisms of BEST1 mutations, and demonstrates gene-supplemented rescue of the mutation-caused deficiency in Ca2+-dependent Cl- current in human RPE.
Jessica E Thomas, Gary R Carvalho ... Michael Knapp
Reconstruction of great auk population dynamics suggests that hunting pressure alone could have been responsible for their extinction, demonstrating that even abundant, widespread species can be vulnerable to intense exploitation.
Alexandria N Miller, George Vaisey, Stephen B Long
Cryo-EM structures of the gating cycle of bestrophin reveal the molecular underpinnings of activation and inactivation gating in this calcium-activated chloride channel and reveal a surprisingly wide pore.
The ability of COPI to bind polyubiquitin is a key determinant for SNARE incorporation into intracellular vesicles and for maintenance of a functional Golgi complex.