نتایج جستجو برای: vertical coplanar vcp

تعداد نتایج: 99181  

Journal: :Neuron 2010
Janel O. Johnson Jessica Mandrioli Michael Benatar Yevgeniya Abramzon Vivianna M. Van Deerlin John Q. Trojanowski J. Raphael Gibbs Maura Brunetti Susan Gronka Joanne Wuu Jinhui Ding Leo McCluskey Maria Martinez-Lage Dana Falcone Dena G. Hernandez Sampath Arepalli Sean Chong Jennifer C. Schymick Jeffrey Rothstein Francesco Landi Yong-Dong Wang Andrea Calvo Gabriele Mora Mario Sabatelli Maria Rosaria Monsurrò Stefania Battistini Fabrizio Salvi Rossella Spataro Patrizia Sola Giuseppe Borghero Giuliana Galassi Sonja W. Scholz J. Paul Taylor Gabriella Restagno Adriano Chiò Bryan J. Traynor

Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS...

2017
Katrina J. Llewellyn Angèle Nalbandian Lan N. Weiss Isabela Chang Howard Yu Bibo Khatib Baichang Tan Vanessa Scarfone Virginia E. Kimonis

Valosin Containing Protein (VCP) disease is an autosomal dominant multisystem proteinopathy caused by mutations in the VCP gene, and is primarily associated with progressive muscle weakness, including atrophy of the pelvic and shoulder girdle muscles. Currently, no treatments are available and cardiac and respiratory failures can lead to mortality at an early age. VCP is an AAA ATPase multifunc...

2012
Christoph S. Clemen Ludwig Eichinger Rolf Schröder

Sir, de Bot et al. report on a novel autosomal-dominant form of hereditary spastic paraplegia due to a valosin-containing protein (VCP) missense mutation. Mutations of the human VCP gene on chromosome 9p13.3 have previously been described to cause IBMPFD (inclusion body myopathy with early onset Paget’s disease of bone and frontotemporal dementia, OMIM #167320) (for current review on IBMPFD see...

2014
Thomas K Chung Eben L Rosenthal John R Porterfield William R Carroll Joshua Richman Mary T Hawn

BACKGROUND Previous intraoperative nerve monitoring (IONM) studies have demonstrated modest-to-no benefit and did not include a nationwide sample of hospitals representative of broad thyroidectomy practices. This national study was designed to compare vocal cord paralysis (VCP) rates between thyroidectomy with IONM and without monitoring (conventional). STUDY DESIGN We performed a retrospecti...

Journal: :Molecular cancer research : MCR 2006
Edward G Mimnaugh Wanping Xu Michele Vos Xitong Yuan Len Neckers

Geldanamycin and Velcade, new anticancer drugs with novel mechanisms of action, are currently undergoing extensive clinical trials. Geldanamycin interrupts Hsp90 chaperone activity and causes down-regulation of its many client proteins by the ubiquitin-proteasome pathway; Velcade is a specific proteasome inhibitor. Misfolded Hsp90 clients within the endoplasmic reticulum (ER) lumen are cleared ...

2006
Cezary Wójcik Maga Rowicka Andrzej Kudlicki Dominika Nowis Elizabeth McConnell Marek Kujawa George N. DeMartino

VCP (p97, cdc48) is a hexameric AAA ATPase involved in multiple cellular functions, including degradation of proteins by the ubiquitin-proteasome system (UPS). We examined the consequences of the reduction of VCP levels after RNAi of VCP. A new stringent method of microarray analysis demonstrated that only 4 transcripts were non-specifically affected by RNAi, while ~30 transcripts were affected...

Journal: :Kulak burun bogaz ihtisas dergisi : KBB = Journal of ear, nose, and throat 2016
Ayça Eltaf Özbal Koç Seda Babakurban Türkoğlu Ozan Erol Selim Erbek

OBJECTIVES This study aims to evaluate the demographic and clinical characteristics of patients with idiopathic and non-idiopathic vocal cord paralysis (VCP). PATIENTS AND METHODS This retrospective cohort was performed on data extracted from medical files of 92 consecutive patients (43 males, 49 females; median age 52.1±23.1 years; min. 1 - max. 87) with VCP diagnosed in the otorhinolaryngol...

Journal: :The EMBO journal 2006
Annett Boeddrich Sébastien Gaumer Annette Haacke Nikolay Tzvetkov Mario Albrecht Bernd O Evert Eva C Müller Rudi Lurz Peter Breuer Nancy Schugardt Stephanie Plassmann Kexiang Xu John M Warrick Jaana Suopanki Ullrich Wüllner Ronald Frank Ulrich F Hartl Nancy M Bonini Erich E Wanker

Arginine/lysine-rich motifs typically function as targeting signals for the translocation of proteins to the nucleus. Here, we demonstrate that such a motif consisting of four basic amino acids in the polyglutamine protein ataxin-3 (Atx-3) serves as a recognition site for the interaction with the molecular chaperone VCP. Through this interaction, VCP modulates the fibrillogenesis of pathogenic ...

2014
Brian C. DeHaven

Vaccinia replication is complex, as it involves both producing new infectious particles as well as a myriad of proteins dedicated to combating the host’s immune response. Although these proteins are often called “nonessential”, they are frequently needed for the virus to achieve maximum virulence in vivo. Two of these proteins are the vaccinia complement control protein (VCP) and A56, the vacci...

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