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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Dynein, axonemal, assembly factor 1

The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13.[provided by RefSeq, May 2010] (from NCBI)
Top mentioned proteins: DNAI2, ICS, atoh1.2, Actin, Arachidonate 15-Lipoxygenase
Papers on LRRC50
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
Werner et al., M√ľnster, Germany. In Eur Respir J, 2014
Biallelic mutations (19 novel) were found in 17 genes: DNAI1, DNAI2, DNAH5, DNAH11, CCDC103, ARMC4, KTU/DNAAF2, LRRC50/DNAAF1, LRRC6, DYX1C1, ZMYND10, CCDC39, CCDC40, CCDC164, HYDIN, RSPH4A and RSPH1.
[Molecular genetic mechanisms of teratozoospermia].
Wang et al., Changchun, China. In Zhonghua Nan Ke Xue, 2013
Aiming to provide some evidence for the pathogenesis of teratozoospermia, this paper reviews the relevant literature in the past five years addressing such special teratozoospermia as globozoospermia, nuclear vacuoles, decapitated spermatozoa, excessive residual cytoplasm, dysplasia of the fibrous sheath, and primary ciliary dyskinesia, and elaborates on the molecular genetic mechanisms of DPY19L2, AR, PRM1, GBA2, PCI, CREM, TH2A, TH2B, ODF1, Cntrob, OAZ-t, HOOK1, SPEM1, GAT1, PRSS21, 15-LOX, Sptrx, AKAP3, AKAP4, DNAI1, DNAH5, RSPH4A, TXNDC3, CCDC39, LRRC6, LRRC50, KTU and so on.
Mutations in LRRC50 predispose zebrafish and humans to seminomas.
Giles et al., Utrecht, Netherlands. In Plos Genet, 2013
Zebrafish carrying a heterozygous nonsense mutation in Leucine-Rich Repeat Containing protein 50 (lrrc50 also called dnaaf1), associated previously with ciliary function, are found to be highly susceptible to the formation of seminomas.
The role of hair cells, cilia and ciliary motility in otolith formation in the zebrafish otic vesicle.
Whitfield et al., Sheffield, United Kingdom. In Development, 2012
In mutants with defective cilia (iguana) or ciliary motility (lrrc50), otoliths are frequently ectopic, untethered or fused.
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
Mitchell et al., London, United Kingdom. In Nat Genet, 2012
Altered abundance of dynein subunits in mutant cytoplasm suggests that DNAAF3 (PF22) acts at a similar stage as other preassembly proteins, for example, DNAAF2 (also known as PF13 or KTU) and DNAAF1 (also known as ODA7 or LRRC50), in the dynein preassembly pathway.
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
Omran et al., Freiburg, Germany. In Am J Hum Genet, 2009
LRRC50 plays a role in assembly of distinct dynein-arm complexes
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
Amselem et al., Paris, France. In Am J Hum Genet, 2009
LRRC50, a member of the leucine-rich-repeat superfamily, has a key role in cytoplasmic preassembly of dynein arms
LRRC50, a conserved ciliary protein implicated in polycystic kidney disease.
van Eeden et al., Utrecht, Netherlands. In J Am Soc Nephrol, 2008
It is proposed that LRRC50 to be a novel candidate gene for human cystic kidney disease, involved in regulation of microtubule-based cilia and actin-based brush border microvilli
Zebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants.
Burdine et al., Princeton, United States. In Dev Biol, 2008
To begin to understand the molecular mechanisms involved in cyst formation, we have cloned the swt mutation and find that it encodes a novel leucine rich repeat containing protein (LRRC50), which is thought to function in correct dynein assembly in cilia.
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