Author

T. Kitzler

2 papers indexed here

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Open access Oct 2026

Expanding the Phenotypic Spectrum of TXNDC15-Related Ciliopathies to Include Joubert Syndrome.

Biallelic loss-of-function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)-resident thioredoxin-domain protein required for ciliary transition zone integrity. Many ciliopathy genes show a spectrum of severity, producing a cl...

Z. Sentell, Rob Geraghty, Juliana E. Arcila-Galvis et al. · American Journal of Medical... · 0 citations

Open access Sep 2026

SPEF1 mediates assembly of central pair microtubule complexes in cilia of Tetrahymena.

SPEF1 is a conserved calponin-homology domain protein that decorates the seam of central pair microtubules in the distal segment of motile cilia. Here, we show that in the ciliate Tetrahymena, loss of SPEF1 disrupts the central pair throughout the middle segment, which comprises most of the cilium, producing gaps in th...

Mayukh Guha, Krishna Kumar Vasudevan, Yu-Yang Jiang et al. · Journal of Cell Science · 0 citations