Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

Primary cilium dysfunction underlies the pathogenesis of Bardet-Biedl syndrome (BBS), a
genetic disorder whose symptoms include obesity, retinal degeneration, and nephropathy …

The BBSome is a complex of Bardet-Biedl Syndrome (BBS) proteins that shares common
structural elements with COPI, COPII, and clathrin coats. Here, we show that the BBSome …

This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …

Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell
surfaces to perform diverse biological roles, including whole-cell locomotion; movement of …

Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …

Several studies have linked cilia and Hedgehog signaling, but the precise roles of ciliary
proteins in signal transduction remain enigmatic. Here we describe a mouse mutation …

Nonalcoholic fatty liver disease (NAFLD) is characterized by excess accumulation of fat in
the liver. In some cases, NAFLD is also accompanied by insulin resistance, resulting in …

Our understanding of endocytosis has evolved remarkably in little more than a decade. This
is the result not only of advances in our knowledge of its molecular and biological workings …