Literature DB >> 27394078

Mutational analysis of COQ2 in patients with MSA in Italy.

Dario Ronchi1, Ernesto Di Biase1, Giulia Franco1, Valentina Melzi1, Francesca Del Sorbo2, Antonio Elia2, Chiara Barzaghi3, Barbara Garavaglia3, Christian Bergamini4, Romana Fato4, Gabriele Mora5, Roberto Del Bo1, Francesco Fortunato1, Linda Borellini1, Ilaria Trezzi1, Giacomo Monzio Compagnoni1, Edoardo Monfrini1, Emanuele Frattini1, Sara Bonato1, Filippo Cogiamanian6, Gianluca Ardolino6, Alberto Priori7, Nereo Bresolin1, Stefania Corti1, Giacomo Pietro Comi1, Alessio Di Fonzo8.   

Abstract

COQ2 mutations have been implicated in the etiology of multiple system atrophy (MSA) in Japan. However, several genetic screenings have not confirmed the role of its variants in the disease. We performed COQ2 sequence analysis in 87 probable MSA. A homozygous change p.A43G was found in an MSA-C patient. Cosegregation analysis and the evaluation of CoQ10 content in muscle and fibroblasts did not support the pathogenic role of this variant.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  COQ2; CoQ10; MSA

Mesh：

Substances：

Year:  2016        PMID： 27394078     DOI： 10.1016/j.neurobiolaging.2016.05.022

Source DB:  PubMed          Journal:  Neurobiol Aging        ISSN： 0197-4580            Impact factor:   4.673


  11 in total

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Journal:  Curr Neurol Neurosci Rep       Date:  2017-05       Impact factor: 5.081

Review 2.  Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update-I. Hypokinetic-rigid movement disorders.

Authors:  Kurt A Jellinger
Journal:  J Neural Transm (Vienna)       Date:  2019-06-18       Impact factor: 3.575

Review 3.  The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer's Disease and Parkinson's Disease.

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Journal:  Mol Neurobiol       Date:  2020-05-22       Impact factor: 5.682

Review 4.  In vitro models of multiple system atrophy from primary cells to induced pluripotent stem cells.

Authors:  Elena Abati; Alessio Di Fonzo; Stefania Corti
Journal:  J Cell Mol Med       Date:  2018-03-04       Impact factor: 5.310

Review 5.  Understanding the pathogenesis of multiple system atrophy: state of the art and future perspectives.

Authors:  Giacomo Monzio Compagnoni; Alessio Di Fonzo
Journal:  Acta Neuropathol Commun       Date:  2019-07-12       Impact factor: 7.801

Review 6.  Induced pluripotent stem cells in multiple system atrophy: recent developments and scientific challenges.

Authors:  Alain Ndayisaba; Marcos Herrera-Vaquero; Gregor K Wenning; Nadia Stefanova
Journal:  Clin Auton Res       Date:  2019-06-11       Impact factor: 4.435

Review 7.  Understanding the Multiple Role of Mitochondria in Parkinson's Disease and Related Disorders: Lesson From Genetics and Protein-Interaction Network.

Authors:  Valentina Nicoletti; Giovanni Palermo; Eleonora Del Prete; Michelangelo Mancuso; Roberto Ceravolo
Journal:  Front Cell Dev Biol       Date:  2021-04-01

Review 8.  A historical review of multiple system atrophy with a critical appraisal of cellular and animal models.

Authors:  David J Marmion; Wouter Peelaerts; Jeffrey H Kordower
Journal:  J Neural Transm (Vienna)       Date:  2021-10-06       Impact factor: 3.575

Review 9.  Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1.

Authors:  Kurt A Jellinger
Journal:  J Alzheimers Dis       Date:  2018       Impact factor: 4.472

10.  Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy.

Authors:  Giacomo Monzio Compagnoni; Giulio Kleiner; Maura Samarani; Massimo Aureli; Gaia Faustini; Arianna Bellucci; Dario Ronchi; Andreina Bordoni; Manuela Garbellini; Sabrina Salani; Francesco Fortunato; Emanuele Frattini; Elena Abati; Christian Bergamini; Romana Fato; Silvia Tabano; Monica Miozzo; Giulia Serratto; Maria Passafaro; Michela Deleidi; Rosamaria Silipigni; Monica Nizzardo; Nereo Bresolin; Giacomo P Comi; Stefania Corti; Catarina M Quinzii; Alessio Di Fonzo
Journal:  Stem Cell Reports       Date:  2018-10-18       Impact factor: 7.765
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