Tamara Caspary

Transcriptomics of independent CRISPR-edited cell lines reveal ciliary-specific ARL13B dependent changes

The paper uses CRISPR-edited cell lines to identify genes whose expression changes with loss and restoration of ciliary ARL13B.

Ciliary ARL13B drives renal cystogenesis via its GEF activity

This study identifies ciliary ARL13B's GEF activity as a driver of Pkd1-dependent renal cystogenesis in mice.

Ciliary ARL13B is essential for body weight regulation in mice

This study shows that ciliary ARL13B in the nervous system is essential for body weight regulation in mice, as its disruption leads to obesity and metabolic dysfunction.

ARL13B-Cerulean rescues Arl13b-null mouse from embryonic lethality and reveals a role for ARL13B in spermatogenesis

This paper shows that expressing ARL13B-Cerulean rescues Arl13b-null mice from embryonic lethality but not fertility, indicating ARL13B's role in spermatogenesis.

In vivo genetic labeling of primary cilia in developing astrocytes.

The paper develops and evaluates genetic models to label astrocyte cilia in the developing prefrontal cortex using Aldh1l1-CreERT2 and cilia reporters, showing that tamoxifen dosage affects labeling efficiency.

Primary cilia shape postnatal astrocyte development through Sonic Hedgehog signaling

This study shows that astrocyte cilia regulate Sonic Hedgehog signaling during astrocyte development, affecting proliferation and morphology.

Ciliary ARL13B inhibits developmental kidney cystogenesis in mouse

This study shows that ARL13B in cilia inhibits kidney cyst formation in mice, and this function is independent of its role as a GEF for ARL3.

Smoothened and ARL13B are critical in mouse for superior cerebellar peduncle targeting

The paper investigates the role of ARL13B in cerebellar development using mouse models, showing its critical role in cerebellar vermis hypoplasia and superior cerebellar peduncle targeting, likely through Hedgehog signaling.

Convergent and distributed effects of the schizophrenia-associated 3q29 deletion on the human neural transcriptome

This study investigates the molecular effects of the 3q29 deletion on the human neural transcriptome, identifying convergent and distributed impacts across gene clusters and pathways related to psychiatric disorders.

Comprehensive phenotyping of 3q29 deletion syndrome: recommendations for clinical care

This study evaluates 32 individuals with 3q29 deletion syndrome to identify common medical and neurodevelopmental features and provides clinical care recommendations.

Metabolic effects of the schizophrenia-associated 3q29 deletion are sex-specific and uncoupled from behavioral phenotypes

This study shows that the 3q29 deletion causes sex-specific metabolic changes in mice, which are not linked to behavioral issues, and that a high-fat diet can improve weight in females without worsening behavior.

Arl13b regulates Sonic Hedgehog signaling from outside primary cilia

This study shows that ARL13B's function outside cilia is critical for Sonic Hedgehog signaling, while its role within cilia is dispensable for Shh transduction.

Ciliary phosphatidylinositol phosphatase Inpp5e plays positive and negative regulatory roles in Shh signaling

The paper identifies Inpp5e's dual role in Shh signaling by showing it regulates GliA and GliR timing, affecting neural tube patterning.

Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion

This study creates a CRISPR-engineered mouse model of the 3q29 deletion, showing behavioral and growth deficits, and demonstrates that these effects are not solely due to Dlg1 haploinsufficiency.