Results 91 to 100 of about 25,036 (270)

How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein? [PDF]

PLoS ONE, 2017
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with dysfunctional α-motor neurons in the anterior horn of the spinal cord.
Wei Li
doaj   +1 more source

Generation of recombinant influenza A virus without M2 ion-channel protein by introduction of a point mutation at the 5′ end of the viral intron [PDF]

, 2005
The aim of this study was to inhibit influenza virus M2 protein expression by mutating the splicing signal of the M gene. Mutations were introduced into the GU dinucleotide sequence at the 5′-proximal splicing site of the M gene (corresponding to nt 52 ...
Chen, H, Cheung, TKW, Guan, Y, Ng, SSF, Peiris, JSM, Poon, LLM, Wong, CHK   +6 more
core   +1 more source

TBK1 Induces the Formation of Optineurin Filaments That Condensate with Polyubiquitin and LC3 for Cargo Sequestration

Advanced Science, EarlyView.
Phosphorylation of Optineurin by TBK1 induces the formation of filaments that condensate upon binding to linear polyubiquitin. Membrane‐anchored LC3 partitions into these condensates, suggesting that phase separation of filamentous Optineurin with ubiquitylated cargo promotes the sequestration of cargo and its subsequent alignment with LC3‐positive ...
Maria G. Herrera, Lena Kühn, Lisa Jungbluth, Verian Bader, Laura J. Krause, David Kartte, Elias Adriaenssens, Sascha Martens, Jörg Tatzelt, Carsten Sachse, Konstanze F. Winklhofer   +10 more
wiley   +1 more source

Autoantibodies to ribonucleoprotein particles containing U2 small nuclear RNA. [PDF]

The EMBO Journal, 1985
Autoantibodies exclusively precipitating U1 and U2 small nuclear ribonucleoprotein (snRNP) particles [anti-(U1,U2)RNP] were detected in sera from four patients with autoimmune disorders. When tested by immunoblotting, these sera recognized up to four different protein antigens in purified mixtures of U1-U6 RNP particles.
W, Habets, M, Hoet, P, Bringmann, R, Lührmann, W, van Venrooij   +4 more
openaire   +2 more sources

Lactylation‐Driven YTHDC1 Alleviates MASLD by Suppressing PTPN22‐Mediated Dephosphorylation of NLRP3

Advanced Science, EarlyView.
In MASLD, YTHDC1 undergoes increased lactylation and ubiquitination, reducing its expression. AARS1 mediates lactylation at lysine 565, while disrupted binding to LDHA further promotes lactylation, suppressing YTHDC1. This downregulation enhances PTPN22 mRNA stability, leading to NLRP3 dephosphorylation and activation, which exacerbates inflammation ...
Feng Zhang, Linghua Zeng, Kunkun Zou, Keying Lin, Fangting Yao, Jinglun Song, Shumeng Zhang, Hanshu Feng, Zhichao Yang, Chunlei Wang, Hongtao Diao, Xue Kong, Tengfei Pan, Joonki Kim, Tianqi Duo, Linqiang Li, Yu Bian   +16 more
wiley   +1 more source

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Nature Communications
SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored.
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard   +56 more
doaj   +1 more source

A Drosophila Model of Spinal Muscular Atrophy Uncouples snRNP Biogenesis Functions of Survival Motor Neuron from Locomotion and Viability Defects

Cell Reports, 2012
The spinal muscular atrophy (SMA) protein, survival motor neuron (SMN), functions in the biogenesis of small nuclear ribonucleoproteins (snRNPs). SMN has also been implicated in tissue-specific functions; however, it remains unclear which of these is ...
Kavita Praveen, Ying Wen, A. Gregory Matera   +2 more
doaj   +1 more source

BMS1 is mutated in aplasia cutis congenita. [PDF]

PLoS Genetics, 2013
Aplasia cutis congenita (ACC) manifests with localized skin defects at birth of unknown cause, mostly affecting the scalp vertex. Here, genome-wide linkage analysis and exome sequencing was used to identify the causative mutation in autosomal dominant ...
Alexander G Marneros
doaj   +1 more source

Functional mammalian spliceosomal complex E contains SMN complex proteins in addition to U1 and U2 snRNPs [PDF]

, 2011
Copyright @ 2011 The Authors. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0), which permits unrestricted non-commercial use ...
Abovich, Andrew Bottrill, Baccon, Batsche, Bedford, Behrens, Behzadnia, Behzadnia, Black, Brow, Campion, Charroux, Charroux, Das, Deckert, Dignam, Donmez, Donmez, Ester, Evgeny M. Makarov, Gozani, Gubitz, Hall, Hartmuth, Hernandez, Ishihama, Jurica, Kao, Kent, Kofler, Konarska, Kuhn, Lin, Luhrmann, Makarova, Makarova, Meister, Michaud, Michaud, Mourelatos, Neubauer, Nicholas Owen, Olga V. Makarova, Otter, Pellizzoni, Pellizzoni, Perkins, Rappsilber, Sharma, Sharma, Stark, Tanackovic, Wahl, Will, Will, Wolf, Wu, Wu, Xu, Young, Yu, Zhang, Zhou, Zillmann   +63 more
core   +2 more sources

Positive Feedback Loop of Histone Lactylation‐Driven HNRNPC Promotes Autophagy to Confer Pancreatic Ductal Adenocarcinoma Gemcitabine Resistance

Advanced Science, EarlyView.
Histone 3 lysine18 lactylation (H3K18la) drives heterogeneous nuclear ribonucleoprotein C (HNRNPC) overexpression, activating autophagy to mediate gemcitabine resistance by stabilizing TNF receptor‐associated factor 6 (TRAF6) mRNA. Concurrently, HNRNPC stabilizes aldehyde dehydrogenase 1 family member A3 (ALDH1A3) mRNA, which enhances glycolysis and ...
Xi‐Tai Huang, Jiao Chen, En‐Liang Zhu, Ming‐Jian Ma, Yang‐Yin‐Hui Yu, Ying‐Qin Zhu, Jing‐Yuan Ye, Jin‐Zhao Xie, Zi‐Yi Zhao, Xiao‐Yu Yin   +9 more
wiley   +1 more source