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Literature DB >> 25185957

Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation.

Satoshi Yamashita¹, Akira Mori, Yasuto Nishida, Ryoichi Kurisaki, Nozomu Tawara, Tomo Nishikami, Yohei Misumi, Hidetsugu Ueyama, Shigehiro Imamura, Yujiro Higuchi, Akihiro Hashiguchi, Itsuro Higuchi, Shinichi Morishita, Jun Yoshimura, Makoto Uchino, Hiroshi Takashima, Shoji Tsuji, Yukio Ando.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2015 PMID： 25185957 DOI： 10.1111/nan.12179

Source DB: PubMed Journal: Neuropathol Appl Neurobiol ISSN： 0305-1846 Impact factor: 8.090

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10 in total

Review 1. Modelling amyotrophic lateral sclerosis in rodents.

Authors: Tiffany W Todd; Leonard Petrucelli
Journal: Nat Rev Neurosci Date: 2022-03-08 Impact factor: 34.870

2. Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation.

Authors: Arianna Manini; Daniele Velardo; Patrizia Ciscato; Claudia Cinnante; Maurizio Moggio; Giacomo Comi; Stefania Corti; Dario Ronchi
Journal: Neurol Genet Date: 2022-07-06

3. Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype.

Authors: Christina Moloney; Sruti Rayaprolu; John Howard; Susan Fromholt; Hilda Brown; Matt Collins; Mariela Cabrera; Colin Duffy; Zoe Siemienski; Dave Miller; Maurice S Swanson; Lucia Notterpek; David R Borchelt; Jada Lewis
Journal: Acta Neuropathol Commun Date: 2016-11-18 Impact factor: 7.801

4. Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination.

Authors: Alexander Mensch; Torsten Kraya; Felicitas Koester; Tobias Müller; Dietrich Stoevesandt; Stephan Zierz
Journal: J Neurol Date: 2020-05-02 Impact factor: 4.849

5. Analysis of spinal and muscle pathology in transgenic mice overexpressing wild-type and ALS-linked mutant MATR3.

Authors: Christina Moloney; Sruti Rayaprolu; John Howard; Susan Fromholt; Hilda Brown; Matt Collins; Mariela Cabrera; Colin Duffy; Zoe Siemienski; Dave Miller; David R Borchelt; Jada Lewis
Journal: Acta Neuropathol Commun Date: 2018-12-19 Impact factor: 7.801

Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation.

Review 1. Modelling amyotrophic lateral sclerosis in rodents.

2. Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation.

3. Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype.

4. Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination.

5. Analysis of spinal and muscle pathology in transgenic mice overexpressing wild-type and ALS-linked mutant MATR3.

Review 6. Matrin 3 in neuromuscular disease: physiology and pathophysiology.

7. Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

8. Nuclear poly(A) binding protein 1 (PABPN1) and Matrin3 interact in muscle cells and regulate RNA processing.

9. ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export.

10. RNA-recognition motif in Matrin-3 mediates neurodegeneration through interaction with hnRNPM.