Literature DB >> 30919029

An ALS case with 38 (G4C2)-repeats in the C9orf72 gene shows TDP-43 and sparse dipeptide repeat protein pathology.

Lieselot Dedeene1,2,3,4, Evelien Van Schoor2,4, Valérie Race5, Matthieu Moisse4, Rik Vandenberghe6,7, Koen Poesen1,3, Philip Van Damme4,7, Dietmar Rudolf Thal8,9.   

Abstract

Entities:  

Keywords:  Amyotrophic lateral sclerosis; C9orf72 repeat expansion; Dipeptide repeat proteins; Transactive response DNA-binding protein 43 kDa

Mesh：

Substances：

Year:  2019        PMID： 30919029     DOI： 10.1007/s00401-019-01996-z

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


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  7 in total

1.  Dipeptide repeat protein and TDP-43 pathology along the hypothalamic-pituitary axis in C9orf72 and non-C9orf72 ALS and FTLD-TDP cases.

Authors:  Lieselot Dedeene; Evelien Van Schoor; Simona Ospitalieri; Alicja Ronisz; Jochen H Weishaupt; Markus Otto; Albert C Ludolph; Angelika Scheuerle; Rik Vandenberghe; Philip Van Damme; Koen Poesen; Dietmar Rudolf Thal
Journal:  Acta Neuropathol       Date:  2020-08-30       Impact factor: 17.088

2.  HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS.

Authors:  Elke Braems; Valérie Bercier; Evelien Van Schoor; Kara Heeren; Jimmy Beckers; Laura Fumagalli; Lieselot Dedeene; Matthieu Moisse; Ilse Geudens; Nicole Hersmus; Arpan R Mehta; Bhuvaneish T Selvaraj; Siddharthan Chandran; Ritchie Ho; Dietmar R Thal; Philip Van Damme; Bart Swinnen; Ludo Van Den Bosch
Journal:  Acta Neuropathol       Date:  2022-07-27       Impact factor: 15.887

3.  Circadian sleep/wake-associated cells show dipeptide repeat protein aggregates in C9orf72-related ALS and FTLD cases.

Authors:  Lieselot Dedeene; Evelien Van Schoor; Rik Vandenberghe; Philip Van Damme; Koen Poesen; Dietmar Rudolf Thal
Journal:  Acta Neuropathol Commun       Date:  2019-12-02       Impact factor: 7.801

4.  Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD.

Authors:  Ruxandra Dafinca; Paola Barbagallo; Lucy Farrimond; Ana Candalija; Jakub Scaber; Nida'a A Ababneh; Chaitra Sathyaprakash; Jane Vowles; Sally A Cowley; Kevin Talbot
Journal:  Stem Cell Reports       Date:  2020-04-23       Impact factor: 7.765

5.  Sigma-1 receptor chaperones rescue nucleocytoplasmic transport deficit seen in cellular and Drosophila ALS/FTD models.

Authors:  Pin-Tse Lee; Jean-Charles Liévens; Shao-Ming Wang; Jian-Ying Chuang; Bilal Khalil; Hsiang-En Wu; Wen-Chang Chang; Tangui Maurice; Tsung-Ping Su
Journal:  Nat Commun       Date:  2020-11-04       Impact factor: 14.919

Review 6.  C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels.

Authors:  Jimmy Beckers; Arun Kumar Tharkeshwar; Philip Van Damme
Journal:  Autophagy       Date:  2021-02-26       Impact factor: 16.016

7.  FTLD Patient-Derived Fibroblasts Show Defective Mitochondrial Function and Accumulation of p62.

Authors:  Stina Leskelä; Dorit Hoffmann; Hannah Rostalski; Nadine Huber; Rebekka Wittrahm; Päivi Hartikainen; Ville Korhonen; Ville Leinonen; Mikko Hiltunen; Eino Solje; Anne M Remes; Annakaisa Haapasalo
Journal:  Mol Neurobiol       Date:  2021-07-30       Impact factor: 5.590
  7 in total

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