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Mouse models of ciliopathies: the state of the art [PDF]
Disease Models & Mechanisms, 2012 The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS)
Dominic P. Norris, Daniel T. Grimes
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Golgi Dysfunctions in Ciliopathies
Cells, 2022 The Golgi apparatus (GA) is essential for intracellular sorting, trafficking and the targeting of proteins to specific cellular compartments. Anatomically, the GA spreads all over the cell but is also particularly enriched close to the base of the ...
Justine Masson, Vincent El Ghouzzi
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Primary cilia-associated protein IFT172 in ciliopathies [PDF]
Frontiers in Cell and Developmental Biology, 2023 Cilium is a highly conserved antenna-like structure protruding from the surface of the cell membrane, which is widely distributed on most mammalian cells. Two types of cilia have been described so far which include motile cilia and immotile cilia and the
Nan-Xi Zheng +7 more
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The importance of genomic profiling for differential diagnosis of pediatric lung disease patients with suspected ciliopathies [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2019 Introduction/Objective. Dysfunction of the axonemal structure leads to ciliopathies. Sensory and motile ciliopathies have been associated with numerous pediatric diseases, including respiratory diseases.
Anđelković Marina +7 more
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A centriole's subdistal appendages: contributions to cell division, ciliogenesis and differentiation [PDF]
Open Biology, 2021 The centrosome is a highly conserved structure composed of two centrioles surrounded by pericentriolar material. The mother, and inherently older, centriole has distal and subdistal appendages, whereas the daughter centriole is devoid of these appendage ...
Nicole A. Hall, Heidi Hehnly
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Frontiers in Molecular Biosciences, 2022 Background:ALMS1 is a ubiquitous gene associated with Alström syndrome (ALMS). The main symptoms of ALMS affect multiple organs and tissues, generating at last, multi-organic fibrosis in the lungs, kidneys and liver.
Brais Bea-Mascato +7 more
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Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome
Frontiers in Genetics, 2022 Ciliopathies are a class of inherited severe human disorders that occur due to defective formation or function of cilia. The RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein1-like) gene encodes for a ciliary protein involved in ...
Laura Moreno-Leon +5 more
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Reversal of ciliary mechanisms of disassembly rescues olfactory dysfunction in ciliopathies
JCI Insight, 2022 Ciliopathies are a class of genetic diseases resulting in cilia dysfunction in multiple organ systems, including the olfactory system. Currently, there are no available curative treatments for olfactory dysfunction and other symptoms in ciliopathies. The
Chao Xie +6 more
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ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia
Frontiers in Cell and Developmental Biology, 2021 In this study, we aimed to evaluate the role of ALMS1 in the morphology of primary cilia and regulation of cellular signaling using a knockdown model of the hTERT-RPE1 cell line.
María Álvarez-Satta +12 more
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Ciliary Genes in Renal Cystic Diseases
Cells, 2020 Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal ...
Anna Adamiok-Ostrowska +1 more
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