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Progressive loss of motor neurons is the hallmark of the neurodegenerative disease amyotrophic lateral sclerosis (ALS), but the underlying disease mechanisms remain incompletely understood. In this study, we investigate the effects of C21ORF2 mutations, a gene recently linked to ALS, and find that primary cilia are dysfunctional. Human patient-derived mutant C21ORF2 motor neurons have a reduced ciliary frequency and length. We report that C21ORF2 is located at the basal body of the primary...

CONCLUSION: This finding suggests that AIRE mutations may be associated with Caroli's disease, with a risk of death and difficulty in curing.

After insemination, a subpopulation of sperm reaches the oviducts and binds to isthmic epithelial cells to form a "sperm reservoir". Our objective was to explore the role of annexin A5 (ANXA5), a protein that binds with high affinity to phosphatidylserine (PS), in the formation of the sperm reservoir in pigs. Phosphatidylserine was detected on the head of approximately 10 % of boar sperm at ejaculation. Porcine ANXA5 was immunodetected with a strong signal on luminal cilia in the isthmus and in...

CONCLUSION: This discovery of CFAP47 as a newly identified gene associated with PKD, displaying X-linked inheritance, emphasizes the need for further cases to understand the role of CFAP47 in PKD.

The primary cilium is a cellular organelle whose assembly and disassembly are closely linked to the cell cycle. The centriole distal appendage (DA) is essential for the early stages of ciliogenesis by anchoring the mother centriole to the cell surface. Despite the identification of over twelve proteins constituting the DA, including CEP83, CEP89, CEP164, FBF1, and SCLT1, their specific functions in ciliary dynamics are not fully understood. Here, we elucidate the precise role of DA proteins in...