Tamara Caspary
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View article: ARL13B-Cerulean rescues <i>Arl13b</i>-null mouse from embryonic lethality and reveals a role for ARL13B in spermatogenesis
ARL13B-Cerulean rescues <i>Arl13b</i>-null mouse from embryonic lethality and reveals a role for ARL13B in spermatogenesis Open
ARL13B is a regulatory GTPase enriched in cilia, making it a popular marker for this organelle. Arl13b hnn/hnn mice lack ARL13B expression, die during midgestation, and exhibit defects in ciliogenesis. The R26Arl13b-Fucci2aR biosensor mous…
View article: <i>In vivo</i> genetic labeling of primary cilia in developing astrocytes
<i>In vivo</i> genetic labeling of primary cilia in developing astrocytes Open
Astrocyte cilia are largely understudied due to the lack of available tools. Astrocyte research advanced with the establishment of Aldh1l1-Cre ERT2 , an inducible Cre line that specifically targets the astrocyte lineage. Here, we develop a…
View article: Primary cilia shape postnatal astrocyte development through Sonic Hedgehog signaling
Primary cilia shape postnatal astrocyte development through Sonic Hedgehog signaling Open
Primary cilia function as specialized signaling centers that regulate many cellular processes including neuron and glia development. Astrocytes possess cilia, but the function of cilia in astrocyte development remains largely unexplored. C…
View article: A prioritization tool for cilia-associated genes and their <i>in vivo</i> resources unveils new avenues for ciliopathy research
A prioritization tool for cilia-associated genes and their <i>in vivo</i> resources unveils new avenues for ciliopathy research Open
Defects in ciliary signaling or mutations in proteins that localize to primary cilia lead to a class of human diseases known as ciliopathies. Approximately 10% of mammalian genes encode cilia-associated proteins, and a major gap in the cil…
View article: GRK2 kinases in the primary cilium initiate SMOOTHENED-PKA signaling in the Hedgehog cascade
GRK2 kinases in the primary cilium initiate SMOOTHENED-PKA signaling in the Hedgehog cascade Open
During Hedgehog (Hh) signal transduction in development and disease, the atypical G protein-coupled receptor (GPCR) SMOOTHENED (SMO) communicates with GLI transcription factors by binding the protein kinase A catalytic subunit (PKA-C) and …
View article: Postnatal Dynamic Ciliary ARL13B and ADCY3 Localization in the Mouse Brain
Postnatal Dynamic Ciliary ARL13B and ADCY3 Localization in the Mouse Brain Open
Primary cilia are hair-like structures found on nearly all mammalian cell types, including cells in the developing and adult brain. A diverse set of receptors and signaling proteins localize within cilia to regulate many physiological and …
View article: Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia
Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia Open
ADP-ribosylation factor-like protein 13B (ARL13B), a regulatory GTPase and guanine exchange factor (GEF), enriches in primary cilia and promotes tumorigenesis in part by regulating Smoothened (SMO), GLI, and Sonic Hedgehog (SHH) signaling.…
View article: Uncovering cilia function in glial development
Uncovering cilia function in glial development Open
SUMMARY Primary cilia play critical roles in regulating signaling pathways that underlie several developmental processes. In the nervous system, cilia are known to regulate signals that guide neuron development. Cilia dysregulation is impl…
View article: GRK2 Kinases in the Primary Cilium Initiate SMOOTHENED-PKA Signaling in the Hedgehog Cascade
GRK2 Kinases in the Primary Cilium Initiate SMOOTHENED-PKA Signaling in the Hedgehog Cascade Open
During Hedgehog (Hh) signal transduction in development and disease, the atypical G protein-coupled receptor (GPCR) SMOOTHENED (SMO) communicates with GLI transcription factors by binding the protein kinase A catalytic subunit (PKA-C) and …
View article: Ciliary ARL13B inhibits developmental kidney cystogenesis in mouse
Ciliary ARL13B inhibits developmental kidney cystogenesis in mouse Open
ARL13B is a small GTPase enriched in cilia. Deletion of Arl13b in mouse kidney results in renal cysts and an associated absence of primary cilia. Similarly, ablation of cilia leads to kidney cysts. To investigate whether ARL13B functions f…
View article: Cilia bent out of shape over dysfunctional astrocyte mitochondria
Cilia bent out of shape over dysfunctional astrocyte mitochondria Open
Mitochondrial dysfunction in astrocytes drives neurodegenerative brain pathology. In this issue, Ignatenko et al. (2022. J. Cell. Biol.https://doi.org/10.1083/jcb.202203019) discover a novel connection between cilia and mitochondria in ast…
View article: Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant SMO and GLI into Glioma Primary Cilia
Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant SMO and GLI into Glioma Primary Cilia Open
ADP-ribosylation factor-like protein 13B (ARL13B), a regulatory GTPase and guanine exchange factor (GEF) enriches in primary cilia and promotes tumorigenesis in part by regulating Smoothened (SMO), GLI, and Sonic hedgehog (SHH) signaling. …
View article: Phylogenetic profiling and cellular analyses of ARL16 reveal roles in traffic of IFT140 and INPP5E
Phylogenetic profiling and cellular analyses of ARL16 reveal roles in traffic of IFT140 and INPP5E Open
The ARF family of regulatory GTPases is ancient, with 16 members predicted to have been present in the last eukaryotic common ancestor. Our phylogenetic profiling of paralogs in diverse species identified four family members whose presence…
View article: The ARF GAPs ELMOD1 and ELMOD3 act at the Golgi and Cilia to Regulate Ciliogenesis and Ciliary Protein Traffic
The ARF GAPs ELMOD1 and ELMOD3 act at the Golgi and Cilia to Regulate Ciliogenesis and Ciliary Protein Traffic Open
ELMODs are a family of three mammalian paralogs that display GTPase activating protein (GAP) activity towards a uniquely broad array of ADP-ribosylation factor (ARF) family GTPases that includes ARF-like (ARL) proteins. ELMODs are ubiquito…
View article: Smoothened and ARL13B are critical in mouse for superior cerebellar peduncle targeting
Smoothened and ARL13B are critical in mouse for superior cerebellar peduncle targeting Open
Patients with the ciliopathy Joubert syndrome present with physical anomalies, intellectual disability, and a hindbrain malformation described as the “molar tooth sign” due to its appearance on an MRI. This radiological abnormality results…
View article: Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care Open
By direct evaluation of 3q29 deletion study subjects, we document common features of the syndrome, including a high burden of neurodevelopmental and neuropsychiatric phenotypes. Evidence-based recommendations for evaluation, referral, and …
View article: Smoothened and ARL13B are critical in mouse for superior cerebellar peduncle targeting
Smoothened and ARL13B are critical in mouse for superior cerebellar peduncle targeting Open
Patients with the ciliopathy Joubert syndrome present with physical anomalies, intellectual disability, and a hindbrain malformation described as the “molar tooth sign” due to its appearance on an MRI. This radiological abnormality results…
View article: “Roles for ELMOD2 and Rootletin in Ciliogenesis”
“Roles for ELMOD2 and Rootletin in Ciliogenesis” Open
ELMOD2 is a GTPase activating protein (GAP) with uniquely broad specificity for ARF family GTPases. We previously showed that it acts with ARL2 in mitochondrial fusion and microtubule stability and with ARF6 during cytokinesis. Mouse embry…
View article: Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation
Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation Open
The construction of cerebral cortex begins with the formation of radial glia. Once formed, polarized radial glial cells divide either symmetrically or asymmetrically to balance appropriate production of progenitor cells and neurons. Upon b…
View article: Arl13b in Primary Cilia Regulates the Migration and Placement of Interneurons in the Developing Cerebral Cortex
Arl13b in Primary Cilia Regulates the Migration and Placement of Interneurons in the Developing Cerebral Cortex Open
Coordinated migration and placement of interneurons and projection neurons lead to functional connectivity in the cerebral cortex; defective neuronal migration and the resultant connectivity changes underlie the cognitive defects in a spec…
View article: Metabolic effects of the schizophrenia-associated 3q29 deletion are sex-specific and uncoupled from behavioral phenotypes
Metabolic effects of the schizophrenia-associated 3q29 deletion are sex-specific and uncoupled from behavioral phenotypes Open
SUMMARY The 1.6 Mb 3q29 deletion is associated with developmental and psychiatric phenotypes. Reduced birthweight and a high prevalence of feeding disorders in patients suggest underlying metabolic dysregulation. We investigated 3q29 delet…
View article: ARF family GTPases with links to cilia
ARF family GTPases with links to cilia Open
The ADP-ribosylation factor (ARF) superfamily of regulatory GTPases, including both the ARF and ARF-like (ARL) proteins, control a multitude of cellular functions, including aspects of vesicular traffic, lipid metabolism, mitochondrial arc…
View article: ARL13B regulates Sonic hedgehog signaling from outside primary cilia
ARL13B regulates Sonic hedgehog signaling from outside primary cilia Open
ARL13B is a regulatory GTPase highly enriched in cilia. Complete loss of Arl13b disrupts cilia architecture, protein trafficking and Sonic hedgehog signaling. To determine whether ARL13B is required within cilia, we knocked in a cilia-excl…
View article: Signaling in the primary cilium through the lens of the Hedgehog pathway
Signaling in the primary cilium through the lens of the Hedgehog pathway Open
Cilia are microtubule‐based, cell‐surface projections whose machinery is evolutionarily conserved. In vertebrates, cilia are observed on almost every cell type and are either motile or immotile. Immotile sensory, or primary cilia, are resp…