Results 1 to 10 of about 11,057 (243)
CPLANE Complex and Ciliopathies
Biomolecules, 2022 Primary cilia are non-motile organelles associated with the cell cycle, which can be found in most vertebrate cell types. Cilia formation occurs through a process called ciliogenesis, which involves several mechanisms including planar cell polarity (PCP)
Jesús Eduardo Martín-Salazar +1 more
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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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Post‐Translational Modifications in Cilia and Ciliopathies [PDF]
Advanced ScienceCilia 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.
Jie Ran, Jun Zhou
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Cilia, ciliopathies and hedgehog-related forebrain developmental disorders
Neurobiology of Disease, 2021 Development of the forebrain critically depends on the Sonic Hedgehog (Shh) signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in holoprosencephaly, a condition defined as a defect in the formation of midline ...
Abraham Andreu-Cervera +2 more
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Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project [PDF]
Frontiers in Genetics, 2019 Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance in the body is demonstrated by the occurrence of a diverse range of developmental disorders that arise from defects ...
Gabrielle Wheway, Hannah M. Mitchison
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Metabolic reprogramming in polycystic kidney disease and other renal ciliopathies [PDF]
EMBO Molecular MedicinePrimary cilia are solitary organelles formed by a microtubule-based skeleton protruding in a single copy on the surface of most cells. Alterations in their function cause a plethora of human conditions collectively called the ciliopathies.
Sara Clerici, Alessandra Boletta
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Molecular MedicinePrimary cilia are sensory organelles that extend from the cellular membrane and are found in a wide range of cell types. Cilia possess a plethora of vital components that enable the detection and transmission of several signaling pathways, including Wnt ...
Xiaonan Liu +5 more
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Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies [PDF]
DiagnosticsCiliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and
Katia Margiotti +10 more
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Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications [PDF]
Advanced ScienceHDAC6 is integral to the regulation of primary cilia, which are specialized structures that serve as crucial signaling hubs for cellular communication and environmental response.
Zhiyi Wang +5 more
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Senior–Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management [PDF]
BiomoleculesSenior–Loken syndrome (SLSN) is a group of rare autosomal recessive disorders caused by dysfunction of the primary cilium, primarily affecting the kidneys (typically leading to nephronophthisis) and eyes (typically leading to retinal degeneration ...
Di Zhou +4 more
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