Sarah Catherine Goetz

Journal Article Mol Biol Cell · January 1, 2023 The serine-threonine kinase tau tubulin kinase 2 (TTBK2) is a key regulator of the assembly of primary cilia, which are vital signaling organelles. TTBK2 is also implicated in the stability of the assembled cilium through mechanisms that remain to be defin ... Full text Link to item Cite

Multiple ciliary localization signals control INPP5E ciliary targeting.

Journal Article Elife · September 5, 2022 Primary cilia are sensory membrane protrusions whose dysfunction causes ciliopathies. INPP5E is a ciliary phosphoinositide phosphatase mutated in ciliopathies like Joubert syndrome. INPP5E regulates numerous ciliary functions, but how it accumulates in cil ... Full text Link to item Cite

A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.

Journal Article Proc Natl Acad Sci U S A · April 20, 2021 Cilia biogenesis is a complex, multistep process involving the coordination of multiple cellular trafficking pathways. Despite the importance of ciliogenesis in mediating the cellular response to cues from the microenvironment, we have only a limited under ... Full text Link to item Cite

TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons.

Journal Article Elife · January 14, 2020 Primary cilia are vital signaling organelles that extend from most types of cells, including neurons and glia. These structures are essential for development of many tissues and organs; however, their function in adult tissues, particularly neurons in the ... Full text Link to item Cite

Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability.

Journal Article PLoS Genet · December 2018 Spinocerebellar ataxia type 11 (SCA11) is a rare, dominantly inherited human ataxia characterized by atrophy of Purkinje neurons in the cerebellum. SCA11 is caused by mutations in the gene encoding the Serine/Threonine kinase Tau tubulin kinase 2 (TTBK2) t ... Full text Open Access Link to item Cite

The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.

Journal Article PLoS One · 2017 The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by cilio ... Full text Link to item Cite

The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.

Journal Article Cell · November 9, 2012 The primary cilium has critical roles in human development and disease, but the mechanisms that regulate ciliogenesis are not understood. Here, we show that Tau tubulin kinase 2 (TTBK2) is a dedicated regulator of the initiation of ciliogenesis in vivo. We ... Full text Link to item Cite

The primary cilium: a signalling centre during vertebrate development.

Journal Article Nat Rev Genet · May 2010 The primary cilium has recently stepped into the spotlight, as a flood of data show that this organelle has crucial roles in vertebrate development and human genetic diseases. Cilia are required for the response to developmental signals, and evidence is ac ... Full text Link to item Cite

The primary cilium as a Hedgehog signal transduction machine.

Journal Article Methods Cell Biol · 2009 The Hedgehog (Hh) signal transduction pathway is essential for the development and patterning of numerous organ systems, and has important roles in a variety of human cancers. Genetic screens for mouse embryonic patterning mutants first showed a connection ... Full text Link to item Cite

SHP-2 is required for the maintenance of cardiac progenitors.

Journal Article Development · November 2007 The isolation and culturing of cardiac progenitor cells has demonstrated that growth factor signaling is required to maintain cardiac cell survival and proliferation. In this study, we demonstrate in Xenopus that SHP-2 activity is required for the maintena ... Full text Link to item Cite

Cardiac progenitors and the embryonic cell cycle.

Journal Article Cell Cycle · August 15, 2007 Despite the critical importance of proper cell cycle regulation in establishing the correct morphology of organs and tissues during development, relatively little is known about how cell proliferation is regulated in a tissue-specific manner. The control o ... Full text Link to item Cite

TBX5 is required for embryonic cardiac cell cycle progression.

Journal Article Development · July 2006 Despite the critical importance of TBX5 in normal development and disease, relatively little is known about the mechanisms by which TBX5 functions in the embryonic heart. Our present studies demonstrate that TBX5 is necessary to control the length of the e ... Full text Link to item Cite

Tbx5 and Tbx20 act synergistically to control vertebrate heart morphogenesis.

Journal Article Development · February 2005 Members of the T-box family of proteins play a fundamental role in patterning the developing vertebrate heart; however, the precise cellular requirements for any one family member and the mechanism by which individual T-box genes function remains largely u ... Full text Link to item Cite