Rab8a and Rab8b are essential for several apical transport pathways but insufficient for ciliogenesis [PDF]
, 2013 The small GTP-binding protein Rab8 is known to play an essential role in intracellular transport and cilia formation. We have previously demonstrated that Rab8a is required for localising apical markers in various organisms.
A. Harada +10 more
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Joubert Syndrome, A Ciliopathy
Pediatric Neurology Briefs, 2013 Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS development.
openaire +4 more sources
Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics. [PDF]
, 2006 Nansheng Chen +18 more
openalex +1 more source
Medicine, 2011 Primary cilia are hair-like organelles expressed by almost every cell in the body. Although they were first recognized at the end of the 19th century, their functions remained obscure until the last decade. It is increasingly recognized that disorders of cilia structure or function underlie a number of rare human genetic diseases that affect the kidney
Albert C.M. Ong +3 more
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Making sense of cilia in disease: The human ciliopathies [PDF]
, 2009 Kate Baker, Philip L. Beales
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RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies [PDF]
, 2009 Loubna El Zein +7 more
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Dzip1 and Fam92 form a ciliary transition zone complex with cell type specific roles in Drosophila
eLife, 2019 Cilia and flagella are conserved eukaryotic organelles essential for cellular signaling and motility. Cilia dysfunctions cause life-threatening ciliopathies, many of which are due to defects in the transition zone (TZ), a complex structure of the ciliary
Jean-André Lapart +10 more
doaj +1 more source
MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome [PDF]
, 2009 Meral Gunay‐Aygun +14 more
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Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network [PDF]
, 2017 Defects in FAM161A, a protein of unknown function localized at the cilium of retinal photoreceptor cells, cause retinitis pigmentosa, a form of hereditary blindness.
Arsenijevic, Yvan +6 more
core
Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies [PDF]
, 2011 Carlos Murga‐Zamalloa +9 more
openalex +1 more source