TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

NJ Lambacher, AL Bruel, TJP Van Dam… - Nature cell …, 2016 - nature.com
The transition zone (TZ) ciliary subcompartment is thought to control cilium composition and
signalling by facilitating a protein diffusion barrier at the ciliary base. TZ defects cause …

[HTML][HTML] CiliaCarta: An integrated and validated compendium of ciliary genes

…, KA Wunderlich, S Rix, GW Dougherty, NJ Lambacher… - PloS one, 2019 - journals.plos.org
The cilium is an essential organelle at the surface of mammalian cells whose dysfunction
causes a wide range of genetic diseases collectively called ciliopathies. The current rate at …

[HTML][HTML] KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

…, A Alhashem, B Tabarki, Q Lu, NJ Lambacher… - Genome biology, 2015 - Springer
Background Joubert syndrome (JBTS) and related disorders are defined by cerebellar
malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The …

[HTML][HTML] The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

PW Chrystal, NJ Lambacher, LP Doucette… - Nature …, 2022 - nature.com
Motile and non-motile cilia are associated with mutually-exclusive genetic disorders. Motile
cilia propel sperm or extracellular fluids, and their dysfunction causes primary ciliary …

Role for intraflagellar transport in building a functional transition zone

VL Jensen, NJ Lambacher, C Li, S Mohan… - EMBO …, 2018 - embopress.org
Genetic disorders caused by cilia dysfunction, termed ciliopathies, frequently involve the
intraflagellar transport ( IFT ) system. Mutations in IFT subunits—including IFT ‐dynein motor …

Caenorhabditis elegans telomere-binding proteins TEBP-1 and TEBP-2 adapt the Myb module to dimerize and bind telomeric DNA

S Padmanaban, NJ Lambacher… - Proceedings of the …, 2024 - National Acad Sciences
Protecting chromosome ends from misrecognition as double-stranded (ds) DNA breaks is
fundamental to eukaryotic viability. The protein complex shelterin prevents a DNA damage …

Primary Cilium Formation and Ciliary Protein Trafficking Is Regulated by the Atypical MAP Kinase MAPK15 in Caenorhabditis elegans and Human Cells

A Kazatskaya, S Kuhns, NJ Lambacher, JE Kennedy… - Genetics, 2017 - academic.oup.com
… Nils J Lambacher , Nils J Lambacher … Anna Kazatskaya, Stefanie Kuhns, Nils J Lambacher,
Julie E Kennedy, Andrea G Brear, Gavin J McManus, Piali Sengupta, Oliver E Blacque, …

Fluorescence interference-contrast microscopy on oxidized silicon using a monomolecular dye layer

A Lambacher, P Fromherz - Applied Physics A, 1996 - Springer
… The Fresnel coefficients of reflection and transmission at an interface between media of
refractive index n, and nj as a function of the angles 0~ and 0j with respect to the normal in those …

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…, BP Pedersen, S Padmanaban, NJ Lambacher… - …, 2024 - National Acad Sciences
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Kindlin-2 cooperates with talin to activate integrins and induces cell spreading by directly binding paxillin

…, E Rognoni, M Veelders, M Bharadwaj, A Lambacher… - Elife, 2016 - elifesciences.org
10.7554/eLife.10130.001 Integrins require an activation step prior to ligand binding and
signaling. How talin and kindlin contribute to these events in non-hematopoietic cells is poorly …