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https://www.readbyqxmd.com/read/29499916/dctn1-f52l-mutation-case-of-perry-syndrome-with-progressive-supranuclear-palsy-like-tauopathy
#1
Hiroyuki Honda, Naokazu Sasagasako, Chang Shen, Masahiro Shijo, Hideomi Hamasaki, Satoshi O Suzuki, Yoshio Tsuboi, Naoki Fujii, Toru Iwaki
INTRODUCTION: Perry syndrome is a rapidly progressive, autosomal dominant parkinsonism characterized by central hypoventilation, depression and severe weight loss. To date, eight DCTN1 mutations have been identified associated with Perry syndrome. A novel F52L DCTN1 mutation case of Perry syndrome is characterized by late-onset parkinsonism and frontotemporal atrophy. METHODS: A Japanese woman suffered from slowly progressing parkinsonism since age 48. At age 59, she developed central hypoventilation, and required breathing assistance...
February 23, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29490687/genetic-ablation-of-dynactin-p150-glued-in-postnatal-neurons-causes-preferential-degeneration-of-spinal-motor-neurons-in-aged-mice
#2
Jia Yu, Chen Lai, Hoon Shim, Chengsong Xie, Lixin Sun, Cai-Xia Long, Jinhui Ding, Yan Li, Huaibin Cai
BACKGROUND: Dynactin p150Glued , the largest subunit of the dynactin macromolecular complex, binds to both microtubules and tubulin dimers through the N-terminal cytoskeleton-associated protein and glycine-rich (CAP-Gly) and basic domains, and serves as an anti-catastrophe factor in stabilizing microtubules in neurons. P150Glued also initiates dynein-mediated axonal retrograde transport. Multiple missense mutations at the CAP-Gly domain of p150Glued are associated with motor neuron diseases and other neurodegenerative disorders, further supporting the importance of microtubule domains (MTBDs) in p150Glued functions...
March 1, 2018: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29327718/epithelioid-fibrous-histiocytoma-molecular-characterization-of-alk-fusion-partners-in-23-cases
#3
Brendan C Dickson, David Swanson, George S Charames, Christopher Dm Fletcher, Jason L Hornick
Epithelioid fibrous histiocytoma is a rare and distinctive cutaneous neoplasm. Most cases harbor ALK rearrangement and show ALK overexpression, which distinguish this neoplasm from conventional cutaneous fibrous histiocytoma and variants. SQSTM1 and VCL have previously been shown to partner with ALK in one case each of epithelioid fibrous histiocytoma. The purpose of this study was to examine a large cohort of epithelioid fibrous histiocytomas by next-generation sequencing to characterize the nature and prevalence of ALK fusion partners...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29273399/behavioral-defects-in-a-dctn1-g71a-transgenic-mouse-model-of-perry-syndrome
#4
Takayasu Mishima, Manami Deshimaru, Takuya Watanabe, Kaori Kubota, Mariko Kinoshita-Kawada, Junichi Yuasa-Kawada, Kotaro Takasaki, Yoshinari Uehara, Shozo Jinno, Katsunori Iwasaki, Yoshio Tsuboi
Perry syndrome is a rare neurodegenerative disease characterized by parkinsonism, depression/apathy, weight loss, and central hypoventilation. Our previously-conducted genome-wide association scan and subsequent studies identified nine mutations in DCTN1, the largest protein subunit of the dynactin complex, in patients with Perry syndrome. These included G71A in the microtubule-binding cytoskeleton-associated protein Gly-rich domain of p150Glued . The dynactin complex is essential for function of the microtubule-based cytoplasmic retrograde motor dynein...
February 14, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29089398/establishing-diagnostic-criteria-for-perry-syndrome
#5
Takayasu Mishima, Shinsuke Fujioka, Hiroyuki Tomiyama, Ichiro Yabe, Ryoichi Kurisaki, Naoki Fujii, Ryuji Neshige, Owen A Ross, Matthew J Farrer, Dennis W Dickson, Zbigniew K Wszolek, Nobutaka Hattori, Yoshio Tsuboi
OBJECTIVE: To establish international diagnostic criteria for Perry syndrome, a disorder characterised by clinical signs of parkinsonism, depression/apathy, weight loss, respiratory symptoms, mutations in the DCTN1 gene and TAR DNA-binding protein 43 (TDP-43) pathology. METHODS: Data from the published literature and newly identified patients were gathered and analysed during and after the International Symposium on Perry syndrome in Tokyo to identify diagnostic criteria for Perry syndrome...
October 31, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28970558/detection-of-known-and-novel-alk-fusion-transcripts-in-lung-cancer-patients-using-next-generation-sequencing-approaches
#6
Julie A Vendrell, Sylvie Taviaux, Benoît Béganton, Sylvain Godreuil, Patricia Audran, David Grand, Estelle Clermont, Isabelle Serre, Vanessa Szablewski, Peter Coopman, Julien Mazières, Valérie Costes, Jean-Louis Pujol, Pierre Brousset, Isabelle Rouquette, Jérôme Solassol
Rearrangements of the anaplastic lymphoma kinase (ALK) gene in non-small cell lung cancer (NSCLC) represent a novel molecular target in a small subset of tumors. Although ALK rearrangements are usually assessed by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH), molecular approaches have recently emerged as relevant alternatives in routine laboratories. Here, we evaluated the use of two different amplicon-based next-generation sequencing (NGS) methods (AmpliSeq and Archer®FusionPlex®) to detect ALK rearrangements, and compared these with IHC and FISH...
October 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28837386/crosstalk-between-translation-and-the-aggresome-autophagy-pathway
#7
Yeonkyoung Park, Joori Park, Yoon Ki Kim
Many neurodegenerative disorders feature the presence of misfolded polypeptide-containing intracellular inclusion bodies biochemically and morphologically analogous to cellular aggresomes. However, it is largely unknown how misfolded polypeptides form aggresomes and are eventually cleared by the aggresome-macroautophagy/autophagy pathway, so-called aggrephagy. Our recent study revealed that when the ubiquitin-proteasome system is impaired, the accumulated misfolded polypeptides are selectively recognized and transported to the aggresome by a CED complex...
August 24, 2017: Autophagy
https://www.readbyqxmd.com/read/28792508/dctn1-gene-analysis-in-chinese-patients-with-sporadic-amyotrophic-lateral-sclerosis
#8
Xiangyi Liu, Lipeng Yang, Lu Tang, Lu Chen, Xiaolu Liu, Dongsheng Fan
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Missense mutations of DCTN1 have been identified as a possible genetic risk factor for ALS. Here, we tested the DCTN1 protein-coding exons in 510 sporadic ALS patients in whom SOD1, TARDBP, FUS, and C9orf72 genes were screened before. Polymerase chain reaction and Sanger sequencing were used for mutation discovery. The results revealed two rare heterozygous missense variants, c.1867C>T (p.R623W) and c.2798C>T (p.A933V). These two patients exhibited spinal disease onset without cognitive impairment, and their onset age and diagnosis delay was within the average range of Chinese ALS patients...
2017: PloS One
https://www.readbyqxmd.com/read/28783747/comprehensive-investigation-of-cask-mutations-and-other-genetic-etiologies-in-41-patients-with-intellectual-disability-and-microcephaly-with-pontine-and-cerebellar-hypoplasia-micpch
#9
Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-Ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa
The CASK gene (Xp11.4) is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH), especially in females. Here, we present a comprehensive investigation of 41 MICPCH patients, analyzed by mutational search of CASK and screening of candidate genes using an SNP array, targeted resequencing and whole-exome sequencing (WES)...
2017: PloS One
https://www.readbyqxmd.com/read/28691208/transcriptomic-profile-analysis-of-mouse-neural-tube-development-by-rna-seq
#10
Juan Yu, Jianbing Mu, Qian Guo, Lihong Yang, Juan Zhang, Zhizhen Liu, Baofeng Yu, Ting Zhang, Jun Xie
The neural tube is the primordium of the central nervous system (CNS) in which its development is not entirely clear. Understanding the cellular and molecular basis of neural tube development could, therefore, provide vital clues to the mechanism of neural tube defects (NTDs). Here, we investigated the gene expression profiles of three different time points (embryonic day (E) 8.5, 9.5 and 10.5) of mouse neural tube by using RNA-seq approach. About 391 differentially expressed genes (DEGs) were screened during mouse neural tube development, including 45 DEGs involved in CNS development, among which Bmp2, Ascl1, Olig2, Lhx1, Wnt7b and Eomes might play the important roles...
September 2017: IUBMB Life
https://www.readbyqxmd.com/read/28690533/dysphagia-in-perry-syndrome-pharyngeal-pressure-in-two-cases
#11
George Umemoto, Yoshio Tsuboi, Hirokazu Furuya, Takayasu Mishima, Shinsuke Fujioka, Naoki Fujii, Hajime Arahata, Miwa Sugahara, Mitsuaki Sakai
BACKGROUND: To investigate the impact of dysphagia in Perry syndrome (PS), an autosomal dominant parkinsonism caused by mutation of DCTN1, which is associated with hypoventilation, depression, and weight loss. CASE PRESENTATION: We used tongue pressure measurements and manofluorography to investigate swallowing function in 2 patients with PS. Case 1, a 60-year-old male showing parkinsonism, and case 2, a 49-year-old male admitted with pneumonia, were diagnosed as having PS based on the DCTN1 gene analysis...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28625595/dctn1-related-neurodegeneration-perry-syndrome-and-beyond
#12
REVIEW
Takuya Konno, Owen A Ross, Hélio A G Teive, Jarosław Sławek, Dennis W Dickson, Zbigniew K Wszolek
Perry syndrome (PS) is a rare hereditary neurodegenerative disease characterized by autosomal dominant parkinsonism, psychiatric symptoms, weight loss, central hypoventilation, and distinct TDP-43 pathology. The mutated causative gene for PS is DCTN1, which encodes the dynactin subunit p150(Glued). Dynactin is a motor protein involved in axonal transport; the p150(Glued) subunit has a critical role in the overall function. Since the discovery of DCTN1 in PS, it has been increasingly recognized that DCTN1 mutations can exhibit more diverse phenotypes than previously thought...
August 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28589942/misfolded-polypeptides-are-selectively-recognized-and-transported-toward-aggresomes-by-a-ced-complex
#13
Joori Park, Yeonkyoung Park, Incheol Ryu, Mi-Hyun Choi, Hyo Jin Lee, Nara Oh, Kyutae Kim, Kyoung Mi Kim, Junho Choe, Cheolju Lee, Ja-Hyun Baik, Yoon Ki Kim
Misfolded polypeptides are rapidly cleared from cells via the ubiquitin-proteasome system (UPS). However, when the UPS is impaired, misfolded polypeptides form small cytoplasmic aggregates, which are sequestered into an aggresome and ultimately degraded by aggrephagy. Despite the relevance of the aggresome to neurodegenerative proteinopathies, the molecular mechanisms underlying aggresome formation remain unclear. Here we show that the CTIF-eEF1A1-DCTN1 (CED) complex functions in the surveillance of either pre-existing or newly synthesized polypeptides by linking two molecular events: selective recognition and aggresomal targeting of misfolded polypeptides...
June 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/28568506/pbb3-imaging-in-parkinsonian-disorders-evidence-for-binding-to-tau-and-other-proteins
#14
Alexandra Perez-Soriano, Julieta E Arena, Katie Dinelle, Qing Miao, Jessamyn McKenzie, Nicole Neilson, Andreas Puschmann, Paul Schaffer, Hitoshi Shinotoh, Jenna Smith-Forrester, Elham Shahinfard, Nasim Vafai, Daryl Wile, Zbigniew Wszolek, Makoto Higuchi, Vesna Sossi, A Jon Stoessl
BACKGROUND AND OBJECTIVES: To study selective regional binding for tau pathology in vivo, using PET with [11 C]PBB3 in PSP patients, and other conditions not typically associated with tauopathy. METHODS: Dynamic PET scans were obtained for 70 minutes after the bolus injection of [11 C]PBB3 in 5 PSP subjects, 1 subject with DCTN1 mutation and PSP phenotype, 3 asymptomatic SNCA duplication carriers, 1 MSA subject, and 6 healthy controls of similar age. Tissue reference Logan analysis was applied to each region of interest using a cerebellar white matter reference region...
July 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28167572/an-oncogenic-alk-fusion-and-an-rras-mutation-in-kras-mutation-negative-pancreatic-ductal-adenocarcinoma
#15
Yoko Shimada, Takashi Kohno, Hideki Ueno, Yoshinori Ino, Hideyuki Hayashi, Takashi Nakaoku, Yasunari Sakamoto, Shunsuke Kondo, Chigusa Morizane, Kazuaki Shimada, Takuji Okusaka, Nobuyoshi Hiraoka
PURPOSE: Oncogenic mutations in the KRAS gene are a well-known driver event, occurring in >95% of pancreatic cancers. The objective of this study was to identify driver oncogene aberrations in pancreatic cancers without the KRAS mutation. METHODS: Whole-exome and transcriptome sequencing was performed on four cases of KRAS mutation-negative pancreatic ductal adenocarcinoma, which were identified in a cohort of 100 cases. RESULTS: One case harbored an oncogenic DCTN1 - ALK fusion...
February 2017: Oncologist
https://www.readbyqxmd.com/read/27874193/alk-oncoproteins-in-atypical-inflammatory-myofibroblastic-tumours-novel-rrbp1-alk-fusions-in-epithelioid-inflammatory-myofibroblastic-sarcoma
#16
REVIEW
Jen-Chieh Lee, Chien-Feng Li, Hsuan-Ying Huang, Mei-Jun Zhu, Adrián Mariño-Enríquez, Chung-Ta Lee, Wen-Bin Ou, Jason L Hornick, Jonathan A Fletcher
ALK oncogenic activation mechanisms were characterized in four conventional spindle-cell inflammatory myofibroblastic tumours (IMT) and five atypical IMT, each of which had ALK genomic perturbations. Constitutively activated ALK oncoproteins were purified by ALK immunoprecipitation and electrophoresis, and were characterized by mass spectrometry. The four conventional IMT had TPM3/4-ALK fusions (two cases) or DCTN1-ALK fusions (two cases), whereas two atypical spindle-cell IMT had TFG-ALK and TPM3-ALK fusion in one case each, and three epithelioid inflammatory myofibroblastic sarcomas had RANBP2-ALK fusions in two cases, and a novel RRBP1-ALK fusion in one case...
February 2017: Journal of Pathology
https://www.readbyqxmd.com/read/27668583/evaluation-of-the-dynactin-1-gene-in-leonbergers-and-labrador-retrievers-with-laryngeal-paralysis
#17
David E Holt, Dorothy C Brown, Paula S Henthorn
OBJECTIVE To sequence exons and splice consensus sites of the dynactin subunit 1 (DCTN1) gene in Leonbergers and Labrador Retrievers with clinical laryngeal paralysis. ANIMALS 5 unrelated Leonbergers with laryngeal paralysis, 2 clinically normal Leonbergers, 7 unrelated Labrador Retrievers with laryngeal paralysis, and 2 clinically normal Labrador Retrievers. PROCEDURES Primers were designed for the entire coding regions of the DCTN1 gene, a noncoding exon at the 5´ end of the gene, and a 900-bp single-nucleotide polymorphism (SNP)-rich region located 17 kb upstream of the DCTN1 gene by use of the CanFam3 assembly of the canine genome sequence...
October 2016: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/27573046/distal-hereditary-motor-neuropathy-type%C3%A2-7b-with-dynactin-1-mutation
#18
Sun Hee Hwang, Eun Ja Kim, Young Bin Hong, Jaesoon Joo, Sung Min Kim, Soo Hyun Nam, Hyun Dae Hong, Seung Hyun Kim, Kiwook Oh, Jeong-Geun Lim, Jeong Hee Cho, Ki Wha Chung, Byung-Ok Choi
Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result in various neurodegenerative diseases, including distal hereditary motor neuropathy type 7B (dHMN7B), Perry syndrome, amyotrophic lateral sclerosis and amyotrophic lateral sclerosis‑frontotemporal dementia. However, since the first dHMN7B patient with a DCTN1 mutation was described in 2003, to the best of our knowledge no further cases have been reported. In the present study, the DCTN1 p.G59S mutation was identified in two unrelated families from a total of 24 Korean families with dHMN, by whole exome sequencing...
October 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27346608/cytoplasmic-aggregates-of-dynactin-in-ipsc-derived-tyrosine-hydroxylase-positive-neurons-from-a-patient-with-perry-syndrome
#19
Takayasu Mishima, Taizo Ishikawa, Keiko Imamura, Takayuki Kondo, Yasushi Koshiba, Ryosuke Takahashi, Jun Takahashi, Akihiro Watanabe, Naoki Fujii, Yoshio Tsuboi, Haruhisa Inoue
BACKGROUND: Perry syndrome is a rare autosomal dominant disorder clinically characterized by parkinsonism with depression/apathy, weight loss, and central hypoventilation. Eight mutations in DCTN1 gene have been reported. A novel disease model is required because the detailed pathogenesis remains unclear. METHODS: To develop a novel model, we generated induced pluripotent stem cells (iPSCs) from a Perry syndrome patient with F52L mutation in DCTN1, and describe clinical and neuroimaging investigations...
September 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27132499/dctn1-p-k56r-in-progressive-supranuclear-palsy
#20
Emil K Gustavsson, Joanne Trinh, Ilaria Guella, Chelsea Szu-Tu, Jaskaran Khinda, Chin-Hsien Lin, Ruey-Meei Wu, Jon Stoessl, Silke Appel-Cresswell, Martin McKeown, Alex Rajput, Ali H Rajput, Maria Skaalum Petersen, Beom S Jeon, Jan O Aasly, Matthew J Farrer
INTRODUCTION: Mutations in dynactin DCTN1 (p150(glued)) have previously been linked to familial motor neuron disease or Perry syndrome (PS) consisting of depression, parkinsonism and hypoventilation. METHODS: We sequenced DCTN1 in 636 Caucasian patients with parkinsonism (Parkinson's disease and Parkinson-plus syndromes) and 508 healthy controls. Variants (MAF < 0.01) were subsequently genotyped in Caucasian (1360 cases and 1009 controls) and Asian cohorts (1046 cases and 830 controls), and the functional implications of pathogenic variants were assessed...
July 2016: Parkinsonism & related Disorders
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