Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, Zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM. Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia. Am J Hum Genet. 2013 Jul 24. PMID: 23891471.
From the abstract: "Using a fly model of PCD [primary ciliary dyskinesia], we conclude that ZMYND10 is a cytoplasmic protein required for IDA [inner dynein arm] and ODA [outer dynein arm] assembly and that its variants cause ciliary dysmotility and PCD with laterality defects."
Wednesday, July 31, 2013
Tuesday, July 30, 2013
DIOPT-DIST online software tool updated
The DRSC recently updated the back-end database supporting our ortholog-human gene-human disease search tool, for example to add new GWAS data sets. If it's been a while since you checked a favorite fly gene or genes at DIOPT-DIST, might be time to check again.
Wednesday, July 10, 2013
Flies & cancer research. Recent review.
Tipping M, Perrimon N. Drosophila as a model for context-dependent tumorigenesis. J Cell Physiol. 2013 Jul 9. PMID: 23836429.
From the abstract: "We review the organs and tissues that have been used to model tumor formation, and propose new strategies to maximize the potential of Drosophila in cancer research."
From the abstract: "We review the organs and tissues that have been used to model tumor formation, and propose new strategies to maximize the potential of Drosophila in cancer research."
Dystonia models. Recent review.
Caldwell KA, Shu Y, Roberts NB, Caldwell GA, O'Donnell JM. Invertebrate models of dystonia. Curr Neuropharmacol. 2013 Jan;11(1):16-29. PMID: 23814534; PMCID: PMC3580786.
From the abstract: "Despite the substantial advances resulting from the identification of these loci, the function of many DYT gene products remains unclear. ... [Worm and fly] models are particularly amenable to large-scale genetic screens for modifiers or additional alleles, which are bolstering our understanding of the molecular functions associated with these gene products. Moreover, the use of invertebrate models for the evaluation of DYT genetic loci and their genetic interaction networks has predictive value and can provide a path forward for therapeutic intervention."
From the abstract: "Despite the substantial advances resulting from the identification of these loci, the function of many DYT gene products remains unclear. ... [Worm and fly] models are particularly amenable to large-scale genetic screens for modifiers or additional alleles, which are bolstering our understanding of the molecular functions associated with these gene products. Moreover, the use of invertebrate models for the evaluation of DYT genetic loci and their genetic interaction networks has predictive value and can provide a path forward for therapeutic intervention."
Mycobacterium can infect flies. Recent report.
Oh CT, Moon C, Jeong MS, Kwon SH, Jang J. Drosophila melanogaster model for Mycobacterium abscessus infection. Microbes Infect. 2013 Jul 4. PMID: 23831804.
Wednesday, July 3, 2013
New fly model: αB-crystallin-related cardiomyopathy. Recent report.
Xie HB, Cammarato A, Rajasekaran NS, Zhang H, Suggs JA, Lin HC, Bernstein SI, Benjamin IJ, Golic KG. The NADPH Metabolic Network Regulates Human αB-crystallin Cardiomyopathy and Reductive Stress in Drosophila melanogaster. PLoS Genet. 2013 PMID: 23818860.
Monday, July 1, 2013
RNA binding & neurodegeneration. Recent report.
Ihara R, Matsukawa K, Nagata Y, Kunugi H, Tsuji S, Chihara T, Kuranaga E, Miura M, Wakabayashi T, Hashimoto T, Iwatsubo T. RNA binding mediates neurotoxicity in the transgenic Drosophila model of TDP-43 proteinopathy. Hum Mol Genet. 2013 Jun 25. PMID: 23804749.
From the abstract: "... our results suggest that RNA-binding is key to the neurodegeneration caused by overexpression of TDP-43, and that abnormalities in RNA processing may be crucial to the pathogenesis of TDP-43 proteinopathy."
Also relevant (Update):
Daigle JG, Lanson NA Jr, Smith RB, Casci I, Maltare A, Monaghan J, Nichols CD, Kryndushkin D, Shewmaker F, Pandey UB. RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations. Hum Mol Genet. 2013 Mar 15;22(6):1193-205. PMID: 23257289; PMCID: PMC3578413.
From the abstract: "... our results suggest that RNA-binding is key to the neurodegeneration caused by overexpression of TDP-43, and that abnormalities in RNA processing may be crucial to the pathogenesis of TDP-43 proteinopathy."
Also relevant (Update):
Daigle JG, Lanson NA Jr, Smith RB, Casci I, Maltare A, Monaghan J, Nichols CD, Kryndushkin D, Shewmaker F, Pandey UB. RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations. Hum Mol Genet. 2013 Mar 15;22(6):1193-205. PMID: 23257289; PMCID: PMC3578413.
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