Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused by defects in primary cilia. Here we identified mutations in TRAF3IP1 (TNF Receptor-Associated Factor Interacting Protein 1) in eight patients from five families with nephronophthisis (NPH) and retinal degeneration, two of the most common manifestations of ciliopathies. TRAF3IP1 encodes IFT54, a subunit of the IFT-B complex required for ciliogenesis. The identified mutations result in mild ciliary defects in patients but also reveal an unexpected role of IFT54 as a negative regulator of microtubule stability via MAP4 (microtubule-associated protein 4). Microtubule defects are associated with altered epithelialization/polarity in renal cells and with ...
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by renal dyspla...
Defects affecting tissues of the anterior segment (AS) of the eye lead to a group of highly debilita...
International audienceNephronophtisis (NPH) is a kidney ciliopathy often associated with extra-renal...
International audienceCiliopathies are a large group of clinically and genetically heterogeneous dis...
Bidirectional protein trafficking within cilia is mediated by the intraflagellar transport (IFT) mac...
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms co...
Ciliopathies are a group of diseases that affect kidney and retina among other organs. Here, we iden...
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use af...
Ciliopathies are a group of diseases that affect kidney and retina among other organs. Here, we iden...
Primary cilia are antenna-like organelles that contain specific proteins, and are crucial for tissue...
Ift88 is a central component of the intraflagellar transport (Ift) complex B, essential for the buil...
AbstractTumor necrosis factor alpha receptor 3 interacting protein 1 (Traf3ip1), also known as MIPT3...
SummaryNephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are autosomal-rece...
Cilia sense and transduce extracellular signals via specific receptors. The intraflagellar transport...
addresses: Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 ...
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by renal dyspla...
Defects affecting tissues of the anterior segment (AS) of the eye lead to a group of highly debilita...
International audienceNephronophtisis (NPH) is a kidney ciliopathy often associated with extra-renal...
International audienceCiliopathies are a large group of clinically and genetically heterogeneous dis...
Bidirectional protein trafficking within cilia is mediated by the intraflagellar transport (IFT) mac...
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms co...
Ciliopathies are a group of diseases that affect kidney and retina among other organs. Here, we iden...
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use af...
Ciliopathies are a group of diseases that affect kidney and retina among other organs. Here, we iden...
Primary cilia are antenna-like organelles that contain specific proteins, and are crucial for tissue...
Ift88 is a central component of the intraflagellar transport (Ift) complex B, essential for the buil...
AbstractTumor necrosis factor alpha receptor 3 interacting protein 1 (Traf3ip1), also known as MIPT3...
SummaryNephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are autosomal-rece...
Cilia sense and transduce extracellular signals via specific receptors. The intraflagellar transport...
addresses: Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 ...
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by renal dyspla...
Defects affecting tissues of the anterior segment (AS) of the eye lead to a group of highly debilita...
International audienceNephronophtisis (NPH) is a kidney ciliopathy often associated with extra-renal...