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Exploring the Spectrum of Kidney Ciliopathies [PDF]
Diagnostics, 2020 Ciliopathies are a group of multi-organ diseases caused by the disruption of the primary cilium. This event leads to a variety of kidney disorders, including nephronophthisis, renal cystic dysplasia, and renal cell carcinoma (RCC).
Matteo Santoni +2 more
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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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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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Ciliopathies in pediatric endocrinology [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2023 Ciliopathies are a group of disorders that involve many organs and systems. In this review, we consider the role of the cilium in multiorgan pathology with a focus on endocrinological aspects.
Ilenia Cicolini +2 more
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Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies [PDF]
Genome BiologyBackground Recent advances in sequencing technologies have increasingly enabled the identification of genetic causes for human monogenic diseases. However, systematic understanding remains limited due to the rarity, genetic heterogeneity, and complex ...
Ellen M. Aarts +11 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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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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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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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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EBioMedicine, 2021 Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht +3 more
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