Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within-and across-breed studies

K Miyadera, GM Acland, GD Aguirre - Mammalian Genome, 2012 - Springer
Considerable clinical and molecular variations have been known in retinal blinding
diseases in man and also in dogs. Different forms of retinal diseases occur in specific breed …

Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds

M Bunel, G Chaudieu, C Hamel, L Lagoutte, G Manes… - Human Genetics, 2019 - Springer
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders eventually
leading to blindness with different ages of onset, progression and severity. Human RP, first …

Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods

L Jakobsen, K Vanselow, M Skogs, Y Toyoda… - The EMBO …, 2011 - embopress.org
Centrosomes in animal cells are dynamic organelles with a proteinaceous matrix of
pericentriolar material assembled around a pair of centrioles. They organize the microtubule …

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

BL Latour, JC Van De Weghe… - The Journal of …, 2020 - Am Soc Clin Investig
Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a
pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in …

CCDC66 regulates primary cilium length and signaling via interactions with transition zone and axonemal proteins

E Odabasi, D Conkar, J Deretic… - Journal of Cell …, 2023 - journals.biologists.com
The primary cilium is a microtubule-based organelle that serves as a hub for many signaling
pathways. It functions as part of the centrosome or cilium complex, which also contains the …

The ciliopathy protein CCDC66 controls mitotic progression and cytokinesis by promoting microtubule nucleation and organization

U Batman, J Deretic, EN Firat-Karalar - PLoS Biology, 2022 - journals.plos.org
Precise spatiotemporal control of microtubule nucleation and organization is critical for
faithful segregation of cytoplasmic and genetic material during cell division and signaling via …

The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking

D Conkar, E Culfa, E Odabasi… - Journal of cell …, 2017 - journals.biologists.com
Centriolar satellites are membrane-less structures that localize and move around the
centrosome and cilium complex in a microtubule-dependent manner. They play important …

Dog models for blinding inherited retinal dystrophies

SM Petersen-Jones, AM Komáromy - Human gene therapy Clinical …, 2015 - liebertpub.com
Spontaneous canine models exist for several inherited retinal dystrophies. This review will
summarize the models and indicate where they have been used in translational gene …

Microtubule‐associated proteins and emerging links to primary cilium structure, assembly, maintenance, and disassembly

D Conkar, EN Firat‐Karalar - The FEBS journal, 2021 - Wiley Online Library
The primary cilium is a microtubule‐based structure that protrudes from the cell surface in
diverse eukaryotic organisms. It functions as a key signaling center that decodes a variety of …

Recent advances in the understanding of cilia mechanisms and their applications as therapeutic targets

M Saito, W Otsu, K Miyadera… - Frontiers in Molecular …, 2023 - frontiersin.org
The primary cilium is a single immotile microtubule-based organelle that protrudes into the
extracellular space. Malformations and dysfunctions of the cilia have been associated with …