keyword
MENU ▼
Read by QxMD icon Read
search

Exosc3

keyword
https://www.readbyqxmd.com/read/29656927/pontocerebellar-hypoplasia-type-1-for-the-neuropediatrician-genotype-phenotype-correlations-and-diagnostic-guidelines-based-on-new-cases-and-overview-of-the-literature
#1
I Ivanov, D Atkinson, I Litvinenko, L Angelova, S Andonova, H Mumdjiev, I Pacheva, M Panova, R Yordanova, V Belovejdov, A Petrova, M Bosheva, T Shmilev, A Savov, A Jordanova
Pontocerebellar hypoplasia type 1 (PCH1) is a major cause of non-5q spinal muscular atrophy (SMA). We screened 128 SMN1-negative SMA patients from Bulgaria for a frequent mutation -p.G31A in EXOSC3, and performed a literature review of all genetically verified PCH1 cases. Homozygous p.G31A/EXOSC3 mutation was identified in 14 Roma patients, representing three fourths of all our SMN1-negative Roma SMA cases. The phenotype of the p.G31A/EXOSC3 homozygotes was compared to the clinical presentation of all reported to date genetically verified PCH1 cases...
April 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29093021/the-rna-exosome-and-rna-exosome-linked-disease
#2
Derrick J Morton, Emily G Kuiper, Stephanie K Jones, Sara W Leung, Anita H Corbett, Milo B Fasken
The RNA exosome is an evolutionarily conserved, ribonuclease complex that is critical for both processing and degradation of a variety of RNAs. Cofactors that associate with the RNA exosome likely dictate substrate specificity for this complex. Recently, mutations in genes encoding both structural subunits of the RNA exosome and its cofactors have been linked to human disease. Mutations in the RNA exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), respectively, which are similar autosomal-recessive, neurodegenerative diseases...
February 2018: RNA
https://www.readbyqxmd.com/read/29069277/a-novel-pretherapeutic-gene-expression-based-risk-score-for-treatment-guidance-in-gastric-cancer
#3
L Bauer, A Hapfelmeier, S Blank, M Reiche, J Slotta-Huspenina, M Jesinghaus, A Novotny, T Schmidt, B Grosser, M Kohlruss, W Weichert, K Ott, G Keller
Background: Perioperative chemotherapy is an established treatment of advanced gastric cancer patients. Treatment selection is based on clinical staging (cT). We aimed to establish and validate a prognostic score including clinical and molecular factors, to optimize treatment decisions for these patients. Patients and methods: We analyzed 626 carcinomas of the stomach and of the gastro-esophageal junction from two academic centers including primarily resected and pre-/perioperatively treated patients...
January 1, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28924877/diagnostic-approach-to-neurotransmitter-monoamine-disorders-experience-from-clinical-biochemical-and-genetic-profiles
#4
Alice Kuster, Jean-Baptiste Arnoux, Magalie Barth, Delphine Lamireau, Nada Houcinat, Cyril Goizet, Bérénice Doray, Stéphanie Gobin, Manuel Schiff, Aline Cano, Daniel Amsallem, Christine Barnerias, Boris Chaumette, Marion Plaze, Abdelhamid Slama, Christine Ioos, Isabelle Desguerre, Anne-Sophie Lebre, Pascale de Lonlay, Laurence Christa
BACKGROUND AND AIM: To improve the diagnostic work-up of patients with diverse neurological diseases, we have elaborated specific clinical and CSF neurotransmitter patterns. METHODS: Neurotransmitter determinations in CSF from 1200 patients revealed abnormal values in 228 (19%) cases. In 54/228 (24%) patients, a final diagnosis was identified. RESULTS: We have reported primary (30/54, 56%) and secondary (24/54, 44%) monoamine neurotransmitter disorders...
September 18, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28687512/recessive-mutation-in-exosc3-associates-with-mitochondrial-dysfunction-and-pontocerebellar-hypoplasia
#5
Gudrun Schottmann, Sylvie Picker-Minh, Jana Marie Schwarz, Esther Gill, Richard J T Rodenburg, Werner Stenzel, Angela M Kaindl, Markus Schuelke
Recessive mutations in EXOSC3, encoding a subunit of the human RNA exosome complex, cause pontocerebellar hypoplasia type 1b (PCH1B). We report a boy with severe muscular hypotonia, psychomotor retardation, progressive microcephaly, and cerebellar atrophy. Biochemical abnormalities comprised mitochondrial complex I and pyruvate dehydrogenase complex (PDHc) deficiency. Whole exome sequencing uncovered a known EXOSC3 mutation p.(D132A) as the underlying cause. In patient fibroblasts, a large portion of the EXOSC3 protein was trapped in the cytosol...
July 4, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28053271/mutations-of-exosc3-rrp40p-associated-with-neurological-diseases-impact-ribosomal-rna-processing-functions-of-the-exosome-in-s-cerevisiae
#6
Abby Gillespie, Jason Gabunilas, Joanna C Jen, Guillaume F Chanfreau
The RNA exosome is a conserved multiprotein complex that achieves a large number of processive and degradative functions in eukaryotic cells. Recently, mutations have been mapped to the gene encoding one of the subunits of the exosome, EXOSC3 (yeast Rrp40p), which results in pontocerebellar hypoplasia with motor neuron degeneration in human patients. However, the molecular impact of these mutations in the pathology of these diseases is not well understood. To investigate the molecular consequences of mutations in EXOSC3 that lead to neurological diseases, we analyzed the effect of three of the mutations that affect conserved residues of EXOSC3/Rrp40p (G31A, G191C, and W238R; G8A, G148C, and W195R, respectively, in human and yeast) in S...
April 2017: RNA
https://www.readbyqxmd.com/read/27876572/-familial-exosc3-related-pontocerebellar-hypoplasia
#7
Anna Paola Di Giovambattista, Itxaropena Jácome Querejeta, Purificación Ventura Faci, Gerardo Rodríguez Martínez, Feliciano Ramos Fuentes
No abstract text is available yet for this article.
November 19, 2016: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/27777260/insight-into-the-rna-exosome-complex-through-modeling-pontocerebellar-hypoplasia-type-1b-disease-mutations-in-yeast
#8
Milo B Fasken, Jillian S Losh, Sara W Leung, Sergine Brutus, Brittany Avin, Jillian C Vaught, Jennifer Potter-Birriel, Taylor Craig, Graeme L Conn, Katherine Mills-Lujan, Anita H Corbett, Ambro van Hoof
Pontocerebellar hypoplasia type 1b (PCH1b) is an autosomal recessive disorder that causes cerebellar hypoplasia and spinal motor neuron degeneration, leading to mortality in early childhood. PCH1b is caused by mutations in the RNA exosome subunit gene, EXOSC3 The RNA exosome is an evolutionarily conserved complex, consisting of nine different core subunits, and one or two 3'-5' exoribonuclease subunits, that mediates several RNA degradation and processing steps. The goal of this study is to assess the functional consequences of the amino acid substitutions that have been identified in EXOSC3 in PCH1b patients...
January 2017: Genetics
https://www.readbyqxmd.com/read/27193168/altered-rna-metabolism-due-to-a-homozygous-rbm7-mutation-in-a-patient-with-spinal-motor-neuropathy
#9
Michele Giunta, Shimon Edvardson, Yaobo Xu, Markus Schuelke, Aurora Gomez-Duran, Veronika Boczonadi, Orly Elpeleg, Juliane S Müller, Rita Horvath
The exosome complex is the most important RNA processing machinery within the cell. Mutations in its subunits EXOSC8 and EXOSC3 cause pontocerebellar hypoplasia, spinal muscular atrophy (SMA) and central nervous system demyelination. We present a patient with SMA-like phenotype carrying a homozygous mutation in RBM7-a subunit of the nuclear exosome targeting (NEXT) complex-which is known to bind and carry specific subtypes of coding and non-coding RNAs to the exosome. The NEXT complex with other protein complexes is responsible for the substrate specificity of the exosome...
July 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/26843489/mutations-in-exosc2-are-associated-with-a-novel-syndrome-characterised-by-retinitis-pigmentosa-progressive-hearing-loss-premature-ageing-short-stature-mild-intellectual-disability-and-distinctive-gestalt
#10
Nataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert, Barbara Klink, Karl Hackmann, Irmingard Neuhann, Barbora Novotna, Jens Schallner, Claudia Krause, Ian A Glass, Shawn E Parnell, Anna Benet-Pages, Anke M Nissen, Wolfgang Berger, Janine Altmüller, Holger Thiele, Bernhard H F Weber, Evelin Schrock, William B Dobyns, Andrea Bier, Andreas Rump
BACKGROUND: Retinitis pigmentosa in combination with hearing loss can be a feature of different Mendelian disorders. We describe a novel syndrome caused by biallelic mutations in the 'exosome component 2' (EXOSC2) gene. METHODS: Clinical ascertainment of three similar affected patients followed by whole exome sequencing. RESULTS: Three individuals from two unrelated German families presented with a novel Mendelian disorder encompassing childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability...
June 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26129669/nuclear-matrix-protein-matrin-3-is-a-regulator-of-zap-mediated-retroviral-restriction
#11
Angela Erazo, Stephen P Goff
BACKGROUND: Matrin 3 is a nuclear matrix protein involved in multiple nuclear processes. In HIV-1 infection, Matrin 3 serves as a Rev cofactor important for the cytoplasmic accumulation of HIV-1 transcripts. ZAP is a potent host restriction factor of multiple viruses including retroviruses HIV-1 and MoMuLV. In this study we sought to further characterize Matrin 3 functions in the regulation of HIV gene expression. RESULTS: Here we describe a function for Matrin 3 as a negative regulator of the ZAP-mediated restriction of retroviruses...
2015: Retrovirology
https://www.readbyqxmd.com/read/25957685/rna-exosome-regulated-long-non-coding-rna-transcription-controls-super-enhancer-activity
#12
Evangelos Pefanis, Jiguang Wang, Gerson Rothschild, Junghyun Lim, David Kazadi, Jianbo Sun, Alexander Federation, Jaime Chao, Oliver Elliott, Zhi-Ping Liu, Aris N Economides, James E Bradner, Raul Rabadan, Uttiya Basu
We have ablated the cellular RNA degradation machinery in differentiated B cells and pluripotent embryonic stem cells (ESCs) by conditional mutagenesis of core (Exosc3) and nuclear RNase (Exosc10) components of RNA exosome and identified a vast number of long non-coding RNAs (lncRNAs) and enhancer RNAs (eRNAs) with emergent functionality. Unexpectedly, eRNA-expressing regions accumulate R-loop structures upon RNA exosome ablation, thus demonstrating the role of RNA exosome in resolving deleterious DNA/RNA hybrids arising from active enhancers...
May 7, 2015: Cell
https://www.readbyqxmd.com/read/25343120/human-mendelian-diseases-related-to-abnormalities-of-the-rna-exosome-or-its-cofactors
#13
REVIEW
Alexandre Fabre, Catherine Badens
The RNA exosome has a key role in RNA decays and RNA quality control. In 2012, two human Mendelian diseases: syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) and Ponto-cerebellar hypoplasia type 1(PCH1) were linked to the RNA exosome or its cofactor's defect. SD/THE's main features are an intractable diarrhea of infancy associated with hair abnormalities, facial dysmorphism, intra uterine growth restriction and immune deficiency. SD/THE is caused by a defect of the SKI complex (TTC37 and SKIV2L), the cytoplasmic co-factor of the RNA exosome for mRNA degradation...
February 2014: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/25216700/protein-deep-sequencing-applied-to-biobank-samples-from-patients-with-pancreatic-cancer
#14
COMPARATIVE STUDY
Daniel Ansari, Roland Andersson, Monika P Bauden, Bodil Andersson, Joanne B Connolly, Charlotte Welinder, Agata Sasor, György Marko-Varga
PURPOSE: Pancreatic cancer is commonly detected at advanced stages when the tumor is no longer amenable to surgical resection. Therefore, finding biomarkers for early stage disease is urgent. Here, we show that high-definition mass spectrometry (HDMS(E)) can be used to identify serum protein alterations associated with early stage pancreatic cancer. METHODS: We analyzed serum samples from patients with resectable pancreatic cancer, benign pancreatic disease, and healthy controls...
February 2015: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/25149867/novel-exosc3-mutation-causes-complicated-hereditary-spastic-paraplegia
#15
Ayelet Halevy, Israela Lerer, Rony Cohen, Liora Kornreich, Avinoam Shuper, Moria Gamliel, Bat-El Zimerman, Isam Korabi, Vardiella Meiner, Rachel Straussberg, Alexander Lossos
We describe two pairs of siblings from a consanguineous family manifesting autosomal recessive hereditary spastic paraplegia caused by a novel mutation in the EXOSC3 gene, previously reported in pontocerebellar hypoplasia type 1. Clinical findings included delayed motor milestones, early-onset spastic paraplegia, variable cognitive disability, and cerebellar signs. Cerebral imaging demonstrated enlarged cisterna magna and mild hypoplasia and atrophy of the lower vermis with a normal pons. Genetic analysis using homozygosity mapping followed by whole exome sequencing identified homozygous c...
November 2014: Journal of Neurology
https://www.readbyqxmd.com/read/25119026/noncoding-rna-transcription-targets-aid-to-divergently-transcribed-loci-in-b-cells
#16
Evangelos Pefanis, Jiguang Wang, Gerson Rothschild, Junghyun Lim, Jaime Chao, Raul Rabadan, Aris N Economides, Uttiya Basu
The vast majority of the mammalian genome has the potential to express noncoding RNA (ncRNA). The 11-subunit RNA exosome complex is the main source of cellular 3'-5' exoribonucleolytic activity and potentially regulates the mammalian noncoding transcriptome. Here we generated a mouse model in which the essential subunit Exosc3 of the RNA exosome complex can be conditionally deleted. Exosc3-deficient B cells lack the ability to undergo normal levels of class switch recombination and somatic hypermutation, two mutagenic DNA processes used to generate antibody diversity via the B-cell mutator protein activation-induced cytidine deaminase (AID)...
October 16, 2014: Nature
https://www.readbyqxmd.com/read/24524299/exosc3-mutations-in-pontocerebellar-hypoplasia-type-1-novel-mutations-and-genotype-phenotype-correlations
#17
Veerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, Jonathan N Berg, Niklas Darin, Abhijit Dixit, Joel Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas Jacques, Mary D King, Periklis Makrythanasis, Adrienn Máté, James A R Nicoll, Declan O'Rourke, Sue Price, Andrew N Williams, Louise Wilson, Mohnish Suri, Laszlo Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles Blm Majoie, Henk A Marquering, Bwee Tien Poll-Thé, Frank Baas
BACKGROUND: Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common characteristics include hypoplasia and atrophy of the cerebellum, variable pontine atrophy, and severe mental and motor impairments. PCH1 is distinctly characterized by the combination with degeneration of spinal motor neurons. Recently, mutations in the exosome component 3 gene (EXOSC3) have been identified in approximately half of the patients with PCH subtype 1...
2014: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/23975261/exome-sequencing-in-a-family-with-intellectual-disability-early-onset-spasticity-and-cerebellar-atrophy-detects-a-novel-mutation-in-exosc3
#18
Ginevra Zanni, Chiara Scotton, Chiara Passarelli, Mingyan Fang, Sabina Barresi, Bruno Dallapiccola, Bin Wu, Francesca Gualandi, Alessandra Ferlini, E Bertini, Wang Wei
Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p.V80F mutation and a known p.D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1. This study confirms the involvement of RNA processing proteins in disorders with motor neuron and cerebellar degeneration overlapping with spinocerebellar ataxia 36 and rare forms of hereditary spastic paraplegia with cerebellar features...
November 2013: Neurogenetics
https://www.readbyqxmd.com/read/23883322/homozygous-exosc3-mutation-c-92g%C3%A2-c-p-g31a-is-a-founder-mutation-causing-severe-pontocerebellar-hypoplasia-type-1-among-the-czech-roma
#19
Jaroslava Schwabova, Dana Safka Brozkova, Borivoj Petrak, Mahulena Mojzisova, Klara Pavlickova, Jana Haberlova, Lenka Mrazkova, Petra Hedvicakova, Ludmila Hornofova, Marie Kaluzova, Filip Fencl, Marcela Krutova, Josef Zamecnik, Pavel Seeman
Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular atrophy plus. Patients manifest severe perinatal weakness, hypotonia, and respiratory insufficiency, causing death frequently before the age of 1 year. Recently, causative mutations in EXOSC3 were reported in a majority of PCH1 patients, but the detailed clinical phenotype caused by EXOSC3 mutations, genotype-phenotype correlations, and prevalent mutations in specific ethnic groups is not yet known...
December 2013: Journal of Neurogenetics
https://www.readbyqxmd.com/read/23644028/pathway-analysis-of-a-genome-wide-association-study-in-schizophrenia
#20
Young Ho Lee, Jae-Hoon Kim, Gwan Gyu Song
OBJECTIVE: The aim of this study was to identify the candidate single nucleotide polymorphisms (SNPs) and candidate mechanisms that contribute to schizophrenia susceptibility and to generate a SNP to gene to pathway hypothesis using an analytical pathway-based approach. METHODS: We used schizophrenia GWAS data of the genotypes of 660,259 SNPs in 1378 controls and 1351 cases of European descent after quality control filtering. ICSNPathway (Identify candidate Causal SNPs and Pathways) analysis was applied to the schizophrenia GWAS dataset...
August 1, 2013: Gene
keyword
keyword
40723
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"