Results 1 to 10 of about 12,422 (262)

Post-Translational Modifications in Cilia and Ciliopathies. [PDF]

Adv Sci (Weinh)
Cilia are microtubule‐based organelles that extend from the surface of most vertebrate cells, and they play important roles in diverse cellular processes during embryonic development and tissue homeostasis.
Ran J, Zhou J.
europepmc   +3 more sources

PATJ deficiency leads to cystic kidney disease and related ciliopathies. [PDF]

HGG Adv
Summary: Cystic kidney disease and related ciliopathies are caused by pathogenic variants in genes that commonly result in ciliary dysfunction. For a substantial number of individuals affected by those cilia-related diseases, the causative gene remains ...
Epting D, Braun DA, Decker E, Ott E, Eisenberger T, Bachmann N, Nedvetsky P, Krahn MP, Hildebrandt F, Bergmann C.   +9 more
europepmc   +2 more sources

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture. [PDF]

Nat Commun
Cilia are essential organelles, and variants in genes governing ciliary function result in ciliopathic diseases. The Ciliogenesis and PLANar polarity Effectors (CPLANE) protein complex is essential for ciliogenesis, and all but one subunit of the CPLANE ...
Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martínez-Gil N, Valverde D, Solarat C, Buel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner TP, Toriyama M, Marcotte EM, Drew K, Roberson EC, Jackson PK, Reiter JF, Tizzano EF, Wallingford JB.   +29 more
europepmc   +2 more sources

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa

Orphanet Journal of Rare Diseases, 2019
Background To evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the constriction of hyperautofluorescent rings in fundus autofluorescence (FAF) images and the ...
Vitor K. L. Takahashi, Christine L. Xu, Júlia T. Takiuti, Mary Ben L. Apatoff, Jimmy K. Duong, Vinit B. Mahajan, Stephen H. Tsang   +6 more
doaj   +2 more sources

HSD17B4 deficiency causes dysregulation of primary cilia and is alleviated by acetyl-CoA. [PDF]

Nat Commun
Primary cilia are dynamic sensory organelles orchestrating key signaling pathways, and disruption of primary ciliogenesis is implicated in a spectrum of genetic disorders. The peroxisomal bifunctional enzyme HSD17B4 is pivotal for peroxisomal β-oxidation
Bae JE, Jang S, Kim JB, Park NY, Jo DS, Hyung H, Kim P, Kim MS, Ryu HY, Lee HS, Lee DS, Baes M, Ryoo ZY, Cho DH.   +13 more
europepmc   +2 more sources

Ciliopathy-Associated Protein Kinase ICK Requires Its Non-Catalytic Carboxyl-Terminal Domain for Regulation of Ciliogenesis [PDF]

Cells, 2019
Loss-of-function mutations in the human ICK (intestinal cell kinase) gene cause dysfunctional primary cilia and perinatal lethality which are associated with human ciliopathies.
Yoon Seon Oh, Eric J. Wang, Casey D. Gailey, David L. Brautigan, Benjamin L. Allen, Zheng Fu   +5 more
doaj   +2 more sources

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes [PDF]

Nature Cell Biology, 2015
Gabrielle Wheway, Miriam Schmidts, Dorus A Mans   +2 more
exaly   +2 more sources

Identification and bioinformatics analysis of cilia-associated gene families in <i>Euplotes amieti</i> (Ciliophora, Hypotrichia). [PDF]

Front Microbiol
IntroductionCiliates serve as pivotal model organisms for investigating the protein composition and regulatory mechanisms underlying cellular processes. This study systematically explores the structural and functional characteristics of cilia-associated ...
Shen L, Xiong X, Xu Z, Liu Y, Sheng Y, Sheng X.   +5 more
europepmc   +2 more sources

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

Frontiers in Genetics, 2022
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating ...
Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Maciej R. Krawczyński, Machteld M. Oud, Machteld M. Oud   +18 more
doaj   +1 more source

Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome

Frontiers in Genetics, 2022
Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis.
Tamara D. S. Rusterholz, Tamara D. S. Rusterholz, Claudia Hofmann, Claudia Hofmann, Ruxandra Bachmann-Gagescu, Ruxandra Bachmann-Gagescu   +5 more
doaj   +1 more source