Tuesday, December 17, 2013
Neurofibromatosis and fly studies.
Walker JA, Gouzi JY, Long JB, Huang S, Maher RC, Xia H, Khalil K, Ray A, Van Vactor D, Bernards R, Bernards A. Genetic and Functional Studies Implicate Synaptic Overgrowth and Ring Gland cAMP/PKA Signaling Defects in the Drosophila melanogaster Neurofibromatosis-1 Growth Deficiency. PLoS Genet. 2013 Nov;9(11):e1003958. PMID: 24278035; PMCID: PMC3836801.
Drosophila models of diabetes.
He BZ, Ludwig MZ, Dickerson DA, Barse L, Arun B, Vilhjálmsson BJ, Park SY, Tamarina NA, Selleck SB, Wittkopp PJ, Bell GI, Kreitman M. Effect of Genetic Variation in a Drosophila Model of Diabetes-Associated Misfolded Human Proinsulin. Genetics. 2013 Nov 26. PMID: 24281155.
Park SY, Ludwig MZ, Tamarina NA, He BZ, Carl SH, Dickerson DA, Barse L, Arun B, Williams CL, Miles CM, Philipson LH, Steiner DF, Bell GI, Kreitman M. Genetic Complexity in a Drosophila Model of Diabetes-Associated Misfolded Human Proinsulin. Genetics. 2013 Nov 26. PMID: 24281154.
These studies utilize the Drosophila Genome Reference Panel from the MacKay lab.
DGRP information page at the MacKay lab
DGRP search page
Nature paper describing the resource
Park SY, Ludwig MZ, Tamarina NA, He BZ, Carl SH, Dickerson DA, Barse L, Arun B, Williams CL, Miles CM, Philipson LH, Steiner DF, Bell GI, Kreitman M. Genetic Complexity in a Drosophila Model of Diabetes-Associated Misfolded Human Proinsulin. Genetics. 2013 Nov 26. PMID: 24281154.
These studies utilize the Drosophila Genome Reference Panel from the MacKay lab.
DGRP information page at the MacKay lab
DGRP search page
Nature paper describing the resource
Hippo pathway and cancer.
Michaloglou C, Lehmann W, Martin T, Delaunay C, Hueber A, Barys L, Niu H, Billy E, Wartmann M, Ito M, Wilson CJ, Digan ME, Bauer A, Voshol H, Christofori G, Sellers WR, Hofmann F, Schmelzle T. The tyrosine phosphatase PTPN14 is a negative regulator of YAP activity. PLoS One. 2013 Apr 16;8(4):e61916. PMID: 23613971; PMCID: PMC3628344.
Fly heart diease model. Impaired Traponin-T.
Cozhimuttam Viswanathan M, Kaushik G, Engler AJ, Lehman WJ, Cammarato A. A Drosophila Melanogaster Model of Diastolic Dysfunction and Cardiomyopathy Based on Impaired Troponin-T Function. Circ Res. 2013 Nov 12. PMID: 24221941.
Flies & Neurodegeration. Database, recent reports and review.
Na D, Rouf M, O Kane CJ, Rubinsztein DC, Gsponer J. NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases. BMC Med Genomics. 2013 Nov 14;6(1):52. PMID: 24229347; PMCID: PMC3833180.
Vos M, Lovisa B, Geens A, Morais VA, Wagnières G, van den Bergh H, Ginggen A, De Strooper B, Tardy Y, Verstreken P. Near-Infrared 808 nm Light Boosts Complex IV-Dependent Respiration and Rescues a Parkinson-Related pink1 Model. PLoS One. 2013 Nov 11;8(11):e78562. PMID: 24244323; PMCID: PMC3823844.
Riemensperger T, Issa AR, Pech U, Coulom H, Nguyễn MV, Cassar M, Jacquet M, Fiala A, Birman S. A single dopamine pathway underlies progressive locomotor deficits in a Drosophila model of Parkinson disease. Cell Rep. 2013 Nov 27;5(4):952-60. PMID: 24239353.
Moran MT, Tare M, Kango-Singh M, Singh A. Homeotic Gene teashirt (tsh) Has a Neuroprotective Function in Amyloid-Beta 42 Mediated Neurodegeneration. PLoS One. 2013 Nov 25;8(11):e80829. PMID: 24282556; PMCID: PMC3840013.
Prüßing K, Voigt A, Schulz JB. Drosophila melanogaster as a model organism for Alzheimer's disease. Mol Neurodegener. 2013 Nov 22;8(1):35. PMID: 24267573.
Vos M, Lovisa B, Geens A, Morais VA, Wagnières G, van den Bergh H, Ginggen A, De Strooper B, Tardy Y, Verstreken P. Near-Infrared 808 nm Light Boosts Complex IV-Dependent Respiration and Rescues a Parkinson-Related pink1 Model. PLoS One. 2013 Nov 11;8(11):e78562. PMID: 24244323; PMCID: PMC3823844.
Riemensperger T, Issa AR, Pech U, Coulom H, Nguyễn MV, Cassar M, Jacquet M, Fiala A, Birman S. A single dopamine pathway underlies progressive locomotor deficits in a Drosophila model of Parkinson disease. Cell Rep. 2013 Nov 27;5(4):952-60. PMID: 24239353.
Moran MT, Tare M, Kango-Singh M, Singh A. Homeotic Gene teashirt (tsh) Has a Neuroprotective Function in Amyloid-Beta 42 Mediated Neurodegeneration. PLoS One. 2013 Nov 25;8(11):e80829. PMID: 24282556; PMCID: PMC3840013.
Prüßing K, Voigt A, Schulz JB. Drosophila melanogaster as a model organism for Alzheimer's disease. Mol Neurodegener. 2013 Nov 22;8(1):35. PMID: 24267573.
Friday, November 22, 2013
Hyperlocomotion in flies expressing mutant form of hDAT associated with autism.
Hamilton PJ, Campbell NG, Sharma S, Erreger K, Herborg Hansen F, Saunders C, Belovich AN; NIH ARRA Autism Sequencing Consortium, Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli A. De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. Mol Psychiatry. 2013 Dec;18(12):1315-1323. PMID: 23979605.
From the abstract: "De novo genetic variation is an important class of risk factors for autism spectrum disorder (ASD). Recently, whole-exome sequencing of ASD families has identified a novel de novo missense mutation in the human dopamine (DA) transporter (hDAT) gene, which results in a Thr to Met substitution at site 356 (hDAT T356M). ... In Drosophila melanogaster, the expression of hDAT T356M in DA neurons-lacking Drosophila DAT leads to hyperlocomotion, a trait associated with DA dysfunction and ASD."
Accompanying image: Hamilton PJ, Campbell NG, Sharma S, Erreger K, Hansen FH, Saunders C, Belovich AN, Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli A. Drosophila melanogaster: a novel animal model for the behavioral characterization of autism-associated mutations in the dopamine transporter gene. Mol Psychiatry. 2013 Dec;18(12):1235. PMID: 24253181
From the abstract: "De novo genetic variation is an important class of risk factors for autism spectrum disorder (ASD). Recently, whole-exome sequencing of ASD families has identified a novel de novo missense mutation in the human dopamine (DA) transporter (hDAT) gene, which results in a Thr to Met substitution at site 356 (hDAT T356M). ... In Drosophila melanogaster, the expression of hDAT T356M in DA neurons-lacking Drosophila DAT leads to hyperlocomotion, a trait associated with DA dysfunction and ASD."
Accompanying image: Hamilton PJ, Campbell NG, Sharma S, Erreger K, Hansen FH, Saunders C, Belovich AN, Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli A. Drosophila melanogaster: a novel animal model for the behavioral characterization of autism-associated mutations in the dopamine transporter gene. Mol Psychiatry. 2013 Dec;18(12):1235. PMID: 24253181
Polarity gene Crumbs & A-beta-42-mediated neurodegeneration. Alzhemier's Disease-related fly study.
Steffensmeier AM, Tare M, Puli OR, Modi R, Nainaparampil J, Kango-Singh M, Singh A. Novel Neuroprotective Function of Apical-Basal Polarity Gene Crumbs in Amyloid Beta 42 (Aβ42) Mediated Neurodegeneration. PLoS One. 2013 Nov 18;8(11):e78717. PMID: 24260128.
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