Kwanghyuk Lee

TL;DR: The findings uncover an unexpected molecular link between a vesicular transport protein and a syndrome of autoimmunity manifested by lung and joint disease.

TL;DR: It is reported that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J), and it is shown that C IB2 is a new member of the vertebrate Usher interactome.

TL;DR: Together with the previous identification of mutations in HARS2, encoding mitochondrial histidyl-tRNA synthetase, mutations in CLPP expose dysfunction of mitochondrial protein homeostasis as a cause of Perrault syndrome.

TL;DR: RNA in situ hybridization in mice revealed that Esrrb is expressed during inner-ear development, whereas immunohistochemical analysis showed that ESRRB is present postnatally in the cochlea, indicating that E SRRB is essential for inner- ear development and function.

TL;DR: The data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carn itine intake, loss, transport, or synthesis may beImportant in a larger fraction of nondys Morphic autism cases; and that the carnItine pathway may provide a novel target for therapy or prevention of autism.