Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis
Cell Reports, 2018 Ciliopathies are a group of genetic disorders caused by a failure to form functional cilia. Due to a lack of structural information, it is currently poorly understood how ciliopathic mutations affect protein functionality to give rise to the underlying ...
Nimesh Joseph +7 more
doaj +1 more source
Making sense of cilia in disease: The human ciliopathies [PDF]
, 2009 Kate Baker, Philip L. Beales
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Computational Drug Repositioning in Cardiorenal Disease: Opportunities, Challenges, and Approaches
PROTEOMICS, Volume 25, Issue 11-12, June 2025.
Paul Perco +7 more
wiley +1 more source
Characterization of the disease-causing mechanism of KIF3B mutations from ciliopathy patients
Frontiers in Molecular BiosciencesThe heterodimeric kinesin-2 motor (KIF3A/KIF3B with accessory protein KAP3) drives intraflagellar transport, essential for ciliogenesis and ciliary function. Three point mutations in the KIF3B subunit have recently been linked to disease in humans (E250Q
Jessica M. Adams +5 more
doaj +1 more source
Multimerization of Zika Virus-NS5 causes a ciliopathy and forces premature neurogenesis
bioRxiv, 2019 Zika virus (ZikV) is a flavivirus that infects neural tissues, causing congenital microcephaly. ZikV has evolved multiple mechanisms to restrict proliferation and enhance cell death, although the underlying cellular events involved remain unclear.
Murielle Saade +8 more
semanticscholar +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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Frontiers in GeneticsObjectiveCopy number changes at Chromosomal 16p13.11 have been implicated in a variety of human diseases including congenital cardiac abnormalities. The clinical correlation of copy number variants (CNVs) in this region with developmental abnormalities ...
Kun Yu +6 more
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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
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Novel homozygous mutations in TXNDC15 causing Meckel syndrome
Molecular Genetics & Genomic MedicineBackground Meckel syndrome (MKS) is the most severe form of an autosomal recessive ciliopathy and is clinically characterized by occipital encephalocele, severely polycystic kidneys, and postaxial polydactyly (toes).
Tianqin Deng, Yuli Xie
doaj +1 more source
Frontiers in Molecular BiosciencesIntroductionAdvanced genetic strategies have transformed our understanding of the genetic basis and diagnosis of many phenotypes, including rare diseases.
Macarena Gajardo +10 more
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