TSEN54 Rabbit Pab Antibody

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TSEN54 rabbit pAb antibody Catalog No : Source: Concentration : Mol.Wt. (Da): A22945 Rabbit 1 mg/ml 58819 Applications WB,IHC,ELISA Reactivity Human Dilution WB: 1:500 - 1:2000. IHC: 1:100 - 1:300. ELISA: 1:20000. Not yet tested in other applications. Storage -20°C/1 year Specificity TSEN54 Polyclonal Antibody detects endogenous levels of TSEN54 protein. Source / Purification The antibody was affinity-purified from rabbit antiserum by affinity- chromatography using epitope-specific immunogen. Immunogen The antiserum was produced against synthesized peptide derived from human TSEN54. AA range:261-310 Uniprot No Q7Z6J9 Alternative names TSEN54; SEN54; tRNA-splicing endonuclease subunit Sen54; SEN54 homolog; HsSEN54; tRNA-intron endonuclease Sen54 Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Clonality Polyclonal Isotype IgG Conjugation Background tRNA splicing endonuclease subunit 54(TSEN54) Homo sapiens This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009], Other TSEN54, tRNA-splicing endonuclease subunit Sen54 Produtc Images： Application Key: WB-Western IP-Immunoprecipitation IHC-Immunohistochemistry ChIP-Chromatin Immunoprecipitation A AAB Biosciences Products www.aabsci.cn FOR RESEARCH USE ONLY. NOT FOR HUMAN OR DIAGNOSTIC USE. IF-Immunofluorescence F-Flow Cytometry E-P-ELISA-Peptide Species Cross-Reactivity Key: H-Human M-Mouse R-Rat Hm-Hamster Mk-Monkey Vir-Virus Mi-Mink C-Chicken Dm-D. melanogaster X-Xenopus Z-Zebrafish B-Bovine Dg-Dog Pg-Pig Sc-S. cerevisiae Ce-C. elegans Hr-Horse All-All Species Expected Trademarks All product names and trademarks are the property of their respective owners. Regulatory Disclaimer For life science research only. Not for use in diagnostic procedures. Contact and Support: To ask questions, solve problems, suggest enhancements and report new applications, please visit our Online Technical Support Site. To call, write, fax, or email us, please visit www.aabsci.c n , contact information will be displayed. A AAB Biosciences Products www.aabsci.cn FOR RESEARCH USE ONLY. NOT FOR HUMAN OR DIAGNOSTIC USE..

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Brain Morphometry in Pontocerebellar Hypoplasia Type 2
Ekert et al. Orphanet Journal of Rare Diseases (2016) 11:100 DOI 10.1186/s13023-016-0481-4 RESEARCH Open Access Brain morphometry in Pontocerebellar Hypoplasia type 2 Kaspar Ekert1†, Samuel Groeschel1†, Iciar Sánchez-Albisua1*, Saskia Frölich1, Andrea Dieckmann2, Corinna Engel1 and Ingeborg Krägeloh-Mann1 Abstract Background: Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to severe and early disruption of brain development, especially of cerebellum and pons. The aim of this work was to quantify the infra- and supratentorial brain growth during postnatal brain development in children with PCH2. Methods: MRI data of 24 children with PCH2 (age 0.02–17 years., 13 females) were analysed volumetrically and compared to images of 24 typically developing age- and gender-matched children. All children with PCH2 had the homozygous p.A307S mutation in the TSEN54-gene. In 5 patients follow-up MRI investigations were available. Images of the children with PCH2 were available either on film (n = 12) or in digital format (n = 21). Images on film were digitalized. Brain structures were manually masked and further adjusted semi-automatically using intensity thresholding to exclude CSF. Volumes of cerebellum, brain stem, and pons were measured, as well as supratentorial brain and frontal lobe volume. For validation of the method part of the digital images were processed as images on film. In addition, intra- and inter-rater variabilities were tested. Results: Children with PCH2 showed reduced volumes of all measured brain structures compared to healthy controls. Severely hypoplastic cerebellum, pons and brain stem only slightly increased in size postnatally.
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High-Resolution Annotation of the Mouse Preimplantation Embryo
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Platform Abstracts
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TSEN54 Gene Trna Splicing Endonuclease Subunit 54
TSEN54 gene tRNA splicing endonuclease subunit 54 Normal Function The TSEN54 gene provides instructions for making one part (subunit) of an enzyme called the tRNA splicing endonuclease complex. This complex helps process several types of RNA molecules, which are chemical cousins of DNA. The tRNA splicing endonuclease complex is particularly important for the normal processing of a form of RNA known as transfer RNA (tRNA). tRNA molecules help assemble protein building blocks called amino acids into full-length proteins. However, before they can assemble proteins, tRNAs must be processed into mature molecules. In particular, regions called introns need to be removed from some tRNAs for the molecules to be functional. The tRNA splicing endonuclease complex recognizes and then removes introns to help produce mature tRNA molecules. Studies suggest that the tRNA splicing endonuclease complex may also be involved in processing another form of RNA known as messenger RNA (mRNA). mRNA serves as a genetic blueprint for making proteins. Researchers suspect that the tRNA splicing endonuclease complex cuts (cleaves) one end of mRNA molecules so a string of adenines (one of the building blocks of RNA) can be added. This process is known as polyadenylation, and the string of adenines is known as a poly(A) tail. The poly(A) tail signals the stopping point for protein production and protects mRNA from being broken down before protein production occurs. Health Conditions Related to Genetic Changes Pontocerebellar hypoplasia Several mutations in the TSEN54 gene have been identified in people with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include delayed development, problems with movement, and intellectual disability.
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Gnomad Lof Supplement
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Sánchez-Albisua et al. Orphanet Journal of Rare Diseases 2014, 9:70 http://www.ojrd.com/content/9/1/70 RESEARCH Open Access Natural course of pontocerebellar hypoplasia type 2A Iciar Sánchez-Albisua1*, Saskia Frölich1, Peter G Barth2, Maja Steinlin3 and Ingeborg Krägeloh-Mann1 Abstract Introduction: Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyskinesia. Ninety percent carry a p.A307S mutation in the TSEN54-gene. Our aim was to describe the natural course including neurological and developmental features and other aspects of care in a homogeneous group of PCH2 patients all carrying the p.A307S mutation. Patients and methods: Patients were recruited via the German patients' organizations. Inclusion criteria were imaging findings of PCH2 and a p.A307S mutation. Data were collected using medical reports and patient questionnaires discussed in a standardized telephone interview. Results: Thirty-three patients were included. When considering survival until age 11 years, 53% of children had died Weight, length and head circumference, mostly in the normal range at birth, became abnormal, especially head circumference (-5.58 SD at age 5 yrs). Neurologic symptoms: Choreathetosis was present in 88% (62% with pyramidal signs), 12% had pure spasticity. Epileptic seizures were manifest in 82%, status epilepticus in 39%. Non-epileptic dystonic attacks occurred in 33%. General symptoms: feeding difficulties were recorded in 100%, sleep disorder in 96%, apneas in 67% and recurrent infections in 52%; gastroesophageal reflux disease was diagnosed in 73%, 67% got percutaneous endoscopic gastrostomy and 36% a Nissen-fundoplication.
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Natural Course of Pontocerebellar Hypoplasia Type 2A Iciar Sánchez-Albisua1*, Saskia Frölich1, Peter G Barth2, Maja Steinlin3 and Ingeborg Krägeloh-Mann1
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Bern Open Repository and Information System (BORIS) Sánchez-Albisua et al. Orphanet Journal of Rare Diseases 2014, 9:70 http://www.ojrd.com/content/9/1/70 RESEARCH Open Access Natural course of pontocerebellar hypoplasia type 2A Iciar Sánchez-Albisua1*, Saskia Frölich1, Peter G Barth2, Maja Steinlin3 and Ingeborg Krägeloh-Mann1 Abstract Introduction: Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyskinesia. Ninety percent carry a p.A307S mutation in the TSEN54-gene. Our aim was to describe the natural course including neurological and developmental features and other aspects of care in a homogeneous group of PCH2 patients all carrying the p.A307S mutation. Patients and methods: Patients were recruited via the German patients' organizations. Inclusion criteria were imaging findings of PCH2 and a p.A307S mutation. Data were collected using medical reports and patient questionnaires discussed in a standardized telephone interview. Results: Thirty-three patients were included. When considering survival until age 11 years, 53% of children had died Weight, length and head circumference, mostly in the normal range at birth, became abnormal, especially head circumference (-5.58 SD at age 5 yrs). Neurologic symptoms: Choreathetosis was present in 88% (62% with pyramidal signs), 12% had pure spasticity. Epileptic seizures were manifest in 82%, status epilepticus in 39%. Non-epileptic dystonic attacks occurred in 33%. General symptoms: feeding difficulties were recorded in 100%, sleep disorder in 96%, apneas in 67% and recurrent infections in 52%; gastroesophageal reflux disease was diagnosed in 73%, 67% got percutaneous endoscopic gastrostomy and 36% a Nissen-fundoplication.
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bioRxiv preprint doi: https://doi.org/10.1101/2020.08.03.234229; this version posted August 3, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. 1 Assembly defects of the human tRNA splicing endonuclease contribute to impaired 2 pre-tRNA processing in pontocerebellar hypoplasia 3 4 Samoil Sekulovski1,†, Pascal Devant1,7,†, Silvia Panizza2,†, Tasos Gogakos5, Anda Pitiriciu1, Katharina 5 Heitmeier1, Ewan Phillip Ramsay3, Marie Barth4, Carla Schmidt4, Stefan Weitzer2, Thomas Tuschl5, 6 Frank Baas6, Javier Martinez2,* & Simon Trowitzsch1,** 7 8 1 Institute of Biochemistry, Biocenter, Goethe University Frankfurt, Max-von-Laue Strasse 9, 60438 9 Frankfurt/Main, Germany. 10 2 Max Perutz Labs, Medical University of Vienna, Vienna Biocenter (VBC), Dr. Bohr-Gasse 9/2, 1030 11 Vienna, Austria. 12 3 The Institute of Cancer Research, 237 Fulham Road, London, SW3 6JB, United Kingdom 13 4 Interdisciplinary research center HALOmem, Charles Tanford Protein Center, Institute for 14 Biochemistry and Biotechnology, Martin Luther University Halle-Wittenberg, Kurt-Mothes-Strasse 3a, 15 06120 Halle, Germany. 16 5 Laboratory for RNA Molecular Biology, The Rockefeller University, 1230 York Avenue, New York, NY 17 10065, USA. 18 6 Department of Clinical Genetics, Leiden University, Albinusdreef 2, 2333 ZA Leiden, Netherlands. 19 7 Ph.D. Program in Virology, Harvard Medical School, Boston, MA 02115, USA & Harvard Medical 20 School and Division of Gastroenterology, Boston Children’s Hospital, Boston, 300 Longwood Avenue, 21 MA 02115, USA.
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Generation DNA Sequencing to the Identification of Rare Variants in Congenital Disorders
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