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https://www.readbyqxmd.com/read/25907786/vocal-development-in-dystonic-rats
#1
Tobias Riede, Yu Zhao, Mark S LeDoux
Vocal production, which requires the generation and integration of laryngeal and respiratory motor patterns, can be impaired in dystonia, a disorder believed due to dysfunction of sensorimotor pathways in the central nervous system. Herein, we analyze vocal and respiratory abnormalities in the dystonic (dt) rat, a well-characterized model of generalized dystonia. The dt rat is a recessive mutant with haploinsufficiency of Atcay which encodes the neuronally restricted protein caytaxin. Olivocerebellar functional abnormalities are central to the dt rat's truncal and appendicular dystonia and could also contribute to vocal and respiratory abnormalities in this model system...
April 2015: Physiological Reports
https://www.readbyqxmd.com/read/25654231/predicted-trans-acting-sirnas-in-the-human-brain
#2
Xiaoshuang Liu, Guangxin Zhang, Changqing Zhang, Jin Wang
Endogenous small non-coding RNAs play pivotal roles in regulating gene expression in eukaryotes. Many studies have investigated the function and molecular mechanism of microRNAs in the development and disease of various organisms via mRNA repression of protein-coding genes. Recent findings indicate microRNAs might trigger the generation of trans-acting small interfering RNAs (ta-siRNAs). The interaction among different types of small RNA molecules reveals an even more complicated and elaborate pattern of RNA regulation during gene expression than previously thought...
2015: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/24727095/alterations-in-cerebellar-physiology-are-associated-with-a-stiff-legged-gait-in-atcay-ji-hes-mice
#3
Katiuska Luna-Cancalon, Kristine M Sikora, Samuel S Pappas, Vikrant Singh, Heike Wulff, Henry L Paulson, Margit Burmeister, Vikram G Shakkottai
Recent evidence suggests that dystonia, a movement disorder characterized by sustained involuntary muscle contractions, can be associated with cerebellar abnormalities. The basis for how functional changes in the cerebellum can cause dystonia is poorly understood. Here we identify alterations in physiology in Atcay(ji-hes) mice which in addition to ataxia, have an abnormal gait with hind limb extension and toe walking, reminiscent of human dystonic gait. No morphological abnormalities in the brain accompany the dystonia, but partial cerebellectomy causes resolution of the stiff-legged gait, suggesting that cerebellar dysfunction contributes to the dystonic gait of Atcay(ji-hes) mice...
July 2014: Neurobiology of Disease
https://www.readbyqxmd.com/read/24416201/identification-of-novel-molecular-markers-for-prognosis-estimation-of-acute-myeloid-leukemia-over-expression-of-pdcd7-fis1-and-ang2-may-indicate-poor-prognosis-in-pretreatment-patients-with-acute-myeloid-leukemia
#4
Yiming Tian, Zoufang Huang, Zhixiang Wang, Changxin Yin, Lanlan Zhou, Lingxiu Zhang, Kaikai Huang, Hongsheng Zhou, Xuejie Jiang, Jinming Li, Libin Liao, Mo Yang, Fanyi Meng
Numerous factors impact on the prognosis of acute myeloid leukemia (AML), among which molecular genetic abnormalities are developed increasingly, however, accurate prediction for newly diagnosed AML patients remains unsatisfied. For further improving the prognosis evaluation system, we investigated the transcripts levels of PDCD7, FIS1, FAM3A, CA6, APP, KLRF1, ATCAY, GGT5 and Ang2 in 97 AML patients and 30 non-malignant controls, and validated using the published microarray data from 225 cytogenetically normal AML (CN-AML) patients treated according to the German AMLCG-1999 protocol...
2014: PloS One
https://www.readbyqxmd.com/read/23610052/clinical-comparison-of-overlapping-deletions-of-19p13-3
#5
Hiba Risheg, Romela Pasion, Stephanie Sacharow, Virginia Proud, LaDonna Immken, Stuart Schwartz, Jim H Tepperberg, Peter Papenhausen, Tiong Y Tan, Joris Andrieux, Ghislaine Plessis, David J Amor, Elisabeth A Keitges
We present three patients with overlapping interstitial deletions of 19p13.3 identified by high resolution SNP microarray analysis. All three had a similar phenotype characterized by intellectual disability or developmental delay, structural heart abnormalities, large head relative to height and weight or macrocephaly, and minor facial anomalies. Deletion sizes ranged from 792 Kb to 1.0 Mb and included a common region arr [hg19] 19p13.3 (3,814,392-4,136,989), containing eight genes: ZFR2, ATCAY, NMRK2, DAPK3, EEF2, PIAS4, ZBTB7A, MAP2K2, and two non-coding RNA's MIR637 and SNORDU37...
May 2013: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/23520151/clinical-comparison-of-overlapping-deletions-of-19p13-3
#6
Hiba Risheg, Romela Pasion, Stephanie Sacharow, Virginia Proud, Ladonna Immken, Stuart Schwartz, Jim H Tepperberg, Peter Papenhausen, Tiong Y Tan, Joris Andrieux, Ghislaine Plessis, David J Amor, Elisabeth A Keitges
We present three patients with overlapping interstitial deletions of 19p13.3 identified by high resolution SNP microarray analysis. All three had a similar phenotype characterized by intellectual disability or developmental delay, structural heart abnormalities, large head relative to height and weight or macrocephaly, and minor facial anomalies. Deletion sizes ranged from 792 Kb to 1.0 Mb and included a common region arr [hg19] 19p13.3 (3,814,392-4,136,989), containing eight genes: ZFR2, ATCAY, NMRK2, DAPK3, EEF2, PIAS4, ZBTB7A, MAP2K2, and two non-coding RNA's MIR637 and SNORDU37...
March 20, 2013: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/23226316/expression-of-caytaxin-protein-in-cayman-ataxia-mouse-models-correlates-with-phenotype-severity
#7
Kristine M Sikora, LaGina M Nosavanh, Prameela Kantheti, Margit Burmeister, Michael Hortsch
Caytaxin is a highly-conserved protein, which is encoded by the Atcay/ATCAY gene. Mutations in Atcay/ATCAY have been identified as causative of cerebellar disorders such as the rare hereditary disease Cayman ataxia in humans, generalized dystonia in the dystonic (dt) rat, and marked motor defects in three ataxic mouse lines. While several lines of evidence suggest that Caytaxin plays a critical role in maintaining nervous system processes, the physiological function of Caytaxin has not been fully characterized...
2012: PloS One
https://www.readbyqxmd.com/read/19436707/multipotent-genetic-suppression-of-retrotransposon-induced-mutations-by-nxf1-through-fine-tuning-of-alternative-splicing
#8
Dorothy Concepcion, Lisbeth Flores-García, Bruce A Hamilton
Cellular gene expression machinery has coevolved with molecular parasites, such as viruses and transposons, which rely on host cells for their expression and reproduction. We previously reported that a wild-derived allele of mouse Nxf1 (Tap), a key component of the host mRNA nuclear export machinery, suppresses two endogenous retrovirus-induced mutations and shows suggestive evidence of positive selection. Here we show that Nxf1(CAST) suppresses a specific and frequent class of intracisternal A particle (IAP)-induced mutations, including Ap3d1(mh2J), a model for Hermansky-Pudlak syndrome, and Atcay(hes), an orthologous gene model for Cayman ataxia, among others...
May 2009: PLoS Genetics
https://www.readbyqxmd.com/read/18628984/nerve-growth-factor-stimulates-interaction-of-cayman-ataxia-protein-bnip-h-caytaxin-with-peptidyl-prolyl-isomerase-pin1-in-differentiating-neurons
#9
Jan Paul Buschdorf, Li Li Chew, Unice Jim Kim Soh, Yih-Cherng Liou, Boon Chuan Low
Mutations in ATCAY that encodes the brain-specific protein BNIP-H (or Caytaxin) lead to Cayman cerebellar ataxia. BNIP-H binds to glutaminase, a neurotransmitter-producing enzyme, and affects its activity and intracellular localization. Here we describe the identification and characterization of the binding between BNIP-H and Pin1, a peptidyl-prolyl cis/trans isomerase. BNIP-H interacted with Pin1 after nerve growth factor-stimulation and they co-localized in the neurites and cytosol of differentiating pheochromocytoma PC12 cells and the embryonic carcinoma P19 cells...
2008: PloS One
https://www.readbyqxmd.com/read/18557972/elimination-of-setx-syne1-and-atcay-as-the-cause-of-cerebellar-abiotrophy-in-australian-kelpies
#10
J R Shearman, V M Lau, A N Wilton
No abstract text is available yet for this article.
October 2008: Animal Genetics
https://www.readbyqxmd.com/read/17092653/caytaxin-deficiency-disrupts-signaling-pathways-in-cerebellar-cortex
#11
J Xiao, S Gong, M S Ledoux
The genetically dystonic (dt) rat, an autosomal recessive model of generalized dystonia, harbors an insertional mutation in Atcay. As a result, dt rats are deficient in Atcay transcript and the neuronally-restricted protein caytaxin. Previous electrophysiological and biochemical studies have defined olivocerebellar pathways, particularly the climbing fiber projection to Purkinje cells, as sites of significant functional abnormality in dt rats. In normal rats, Atcay transcript is abundantly expressed in the granular and Purkinje cell layers of cerebellar cortex...
January 19, 2007: Neuroscience
https://www.readbyqxmd.com/read/16899818/brain-specific-bnip-2-homology-protein-caytaxin-relocalises-glutaminase-to-neurite-terminals-and-reduces-glutamate-levels
#12
Jan Paul Buschdorf, Li Li Chew, Bin Zhang, Qiong Cao, Feng-Yi Liang, Yih-Cherng Liou, Yi Ting Zhou, Boon Chuan Low
Human Cayman ataxia and mouse or rat dystonia are linked to mutations in the genes ATCAY (Atcay) that encode BNIP-H or Caytaxin, a brain-specific member of the BNIP-2 family. To explore its possible role(s) in neuronal function, we used protein precipitation and matrix-assisted laser desorption/ionisation mass spectrometry and identified kidney-type glutaminase (KGA) as a novel partner of BNIP-H. KGA converts glutamine to glutamate, which could serve as an important source of neurotransmitter. Co-immunoprecipitation with specific BNIP-H antibody confirmed that endogenous BNIP-H and KGA form a physiological complex in the brain, whereas binding studies showed that they interact with each other directly...
August 15, 2006: Journal of Cell Science
https://www.readbyqxmd.com/read/16246457/caytaxin-deficiency-causes-generalized-dystonia-in-rats
#13
COMPARATIVE STUDY
Jianfeng Xiao, Mark S Ledoux
The genetically dystonic rat (SD-dt:JFL) is an autosomal recessive model of generalized dystonia. Without cerebellectomy, the dt rat dies prior to Postnatal Day 40. The dt locus was mapped to a 4.2 Mb region on Chr 7q11 and candidate genes were screened with semi-quantitative RT-PCR. Then, Southern blotting and genomic DNA sequencing identified the 3'-long terminal repeat portion of an intracisternal A particle element inserted into Intron 1 of Atcay, the gene which encodes caytaxin. Northern and Western blotting and quantitative real-time RT-PCR defined the Atcay allele in dt rats (Atcay(dt)) as hypomorphic...
November 30, 2005: Brain Research. Molecular Brain Research
https://www.readbyqxmd.com/read/15221784/characterization-of-a-mutagenic-b1-retrotransposon-insertion-in-the-jittery-mouse
#14
Nicolas Gilbert, Jamee M Bomar, Margit Burmeister, John V Moran
B1 elements are an abundant class of short interspersed elements (SINEs) in the mouse genome and mobilize by a process known as retrotransposition. Here, we report the characterization of a mutagenic B1 insertion into exon 4 of the Atcay gene, which was previously shown to be responsible for the jittery mouse. Mutations in the human ortholog of this gene, ATCAY, are responsible for Cayman ataxia. The B1 insertion is approximately 150-bp long, ends in a 45-50-bp polyadenylic acid (poly A) tail, is flanked by a perfect 13-bp target-site duplication, and is inserted into a sequence that resembles a LINE-1 endonuclease consensus cleavage site...
July 2004: Human Mutation
https://www.readbyqxmd.com/read/14556008/mutations-in-a-novel-gene-encoding-a-cral-trio-domain-cause-human-cayman-ataxia-and-ataxia-dystonia-in-the-jittery-mouse
#15
Jamee M Bomar, Paul J Benke, Eric L Slattery, Radhika Puttagunta, Larry P Taylor, Eunju Seong, Arne Nystuen, Weidong Chen, Roger L Albin, Paresh D Patel, Rick A Kittles, Val C Sheffield, Margit Burmeister
Cayman ataxia is a recessive congenital ataxia restricted to one area of Grand Cayman Island. Comparative mapping suggested that the locus on 19p13.3 associated with Cayman ataxia might be homologous to the locus on mouse chromosome 10 associated with the recessive ataxic mouse mutant jittery. Screening genes in the region of overlap identified mutations in a novel predicted gene in three mouse jittery alleles, including the first mouse mutation caused by an Alu-related (B1 element) insertion. We found two mutations exclusively in all individuals with Cayman ataxia...
November 2003: Nature Genetics
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