Literature DB >> 24878479

An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy.

L Jouan, D Rocheford, A Szuto, E Carney, K David, P A Dion, G A Rouleau.   

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Year:  2014        PMID： 24878479     DOI： 10.1017/s0317167100018588

Source DB:  PubMed          Journal:  Can J Neurol Sci        ISSN： 0317-1671            Impact factor:   2.104


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  10 in total

1.  Proteomic analysis reveals that wildtype and alanine-expanded nuclear poly(A)-binding protein exhibit differential interactions in skeletal muscle.

Authors:  Ayan Banerjee; Brittany L Phillips; Quidong Deng; Nicholas T Seyfried; Grace K Pavlath; Katherine E Vest; Anita H Corbett
Journal:  J Biol Chem       Date:  2019-03-05       Impact factor: 5.157

2.  Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology.

Authors:  Katherine E Vest; Brittany L Phillips; Ayan Banerjee; Luciano H Apponi; Eric B Dammer; Weiting Xu; Dinghai Zheng; Julia Yu; Bin Tian; Grace K Pavlath; Anita H Corbett
Journal:  Hum Mol Genet       Date:  2017-09-01       Impact factor: 6.150

3.  Anti-prion Drugs Targeting the Protein Folding Activity of the Ribosome Reduce PABPN1 Aggregation.

Authors:  Aline Bamia; Maha Sinane; Rima Naït-Saïdi; Jamila Dhiab; Frédéric Bihel; Cécile Voisset; Marc Keruzoré; Phu Hai Nguyen; Agathe Bertho; Flavie Soubigou; Sophie Halliez; Marc Blondel; Capucine Trollet; Martine Simonelig; Gaëlle Friocourt; Vincent Béringue
Journal:  Neurotherapeutics       Date:  2021-02-02       Impact factor: 7.620

4.  Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.

Authors:  Pascale Richard; Capucine Trollet; Tanya Stojkovic; Alix de Becdelievre; Sophie Perie; Jean Pouget; Bruno Eymard
Journal:  Neurology       Date:  2016-12-23       Impact factor: 9.910

5.  An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy.

Authors:  Katherine E Vest; Luciano H Apponi; Ayan Banerjee; Grace K Pavlath; Anita H Corbett
Journal:  J Neuromuscul Dis       Date:  2015-10-20

6.  Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy.

Authors:  Cécile Ribot; Cédric Soler; Aymeric Chartier; Sandy Al Hayek; Rima Naït-Saïdi; Nicolas Barbezier; Olivier Coux; Martine Simonelig
Journal:  PLoS Genet       Date:  2022-01-13       Impact factor: 5.917

Review 7.  A muscle stem cell for every muscle: variability of satellite cell biology among different muscle groups.

Authors:  Matthew E Randolph; Grace K Pavlath
Journal:  Front Aging Neurosci       Date:  2015-10-07       Impact factor: 5.750

8.  Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing.

Authors:  Pierre Klein; Martine Oloko; Fanny Roth; Valérie Montel; Alberto Malerba; Susan Jarmin; Teresa Gidaro; Linda Popplewell; Sophie Perie; Jean Lacau St Guily; Pierre de la Grange; Michael N Antoniou; George Dickson; Gillian Butler-Browne; Bruno Bastide; Vincent Mouly; Capucine Trollet
Journal:  Nucleic Acids Res       Date:  2016-08-09       Impact factor: 16.971

9.  Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools.

Authors:  Rick H de Leeuw; Dominique Garnier; Rosemarie M J M Kroon; Corinne G C Horlings; Emile de Meijer; Henk Buermans; Baziel G M van Engelen; Peter de Knijff; Vered Raz
Journal:  Eur J Hum Genet       Date:  2018-11-19       Impact factor: 4.246

10.  Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy.

Authors:  Maurits Tankink; Corinne G C Horlings; Nicol Voermans; Barbara van der Sluijs; Roy P C Kessels; Baziel van Engelen; Joost Raaphorst
Journal:  J Neuromuscul Dis       Date:  2022
  10 in total

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