Literature DB >> 25952333

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.

Johanna Palmio1, Anni Evilä2, Ayat Bashir3, Fiona Norwood4, Kati Viitaniemi1, Anna Vihola2, Sanna Huovinen5, Volker Straub6, Peter Hackman2, Michio Hirano7, Kate Bushby6, Bjarne Udd8.   

Abstract

Entities:  

Keywords:  GENETICS; MOTOR NEURON DISEASE; MUSCLE DISEASE; NEUROMUSCULAR; NEUROPATHOLOGY, MUSCLE

Mesh：

Substances：

Year:  2015        PMID： 25952333     DOI： 10.1136/jnnp-2014-309349

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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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.  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

5.  N-terminal sequences in matrin 3 mediate phase separation into droplet-like structures that recruit TDP43 variants lacking RNA binding elements.

Authors:  M Carolina Gallego-Iradi; Haley Strunk; Anthony M Crown; Rachel Davila; Hilda Brown; Edgardo Rodriguez-Lebron; David R Borchelt
Journal:  Lab Invest       Date:  2019-04-24       Impact factor: 5.662

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

Authors:  Ahmed M Malik; Sami J Barmada
Journal:  JCI Insight       Date:  2021-01-11

7.  Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11.

Authors:  Mridul Johari; George Papadimas; Constantinos Papadopoulos; Sophia Xirou; Aikaterini Kanavaki; Margarita Chrysanthou-Piterou; Salla Rusanen; Marco Savarese; Peter Hackman; Bjarne Udd
Journal:  Ann Clin Transl Neurol       Date:  2022-09-22       Impact factor: 5.430

8.  Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders.

Authors:  Manu Jokela; Sanna Huovinen; Olayinka Raheem; Mikaela Lindfors; Johanna Palmio; Sini Penttilä; Bjarne Udd
Journal:  PLoS One       Date:  2016-03-21       Impact factor: 3.240

9.  Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy.

Authors:  M Carolina Gallego-Iradi; Alexis M Clare; Hilda H Brown; Christopher Janus; Jada Lewis; David R Borchelt
Journal:  PLoS One       Date:  2015-11-03       Impact factor: 3.240

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

Authors:  Ashley Boehringer; Krystine Garcia-Mansfield; Gurkaran Singh; Nadine Bakkar; Patrick Pirrotte; Robert Bowser
Journal:  Sci Rep       Date:  2017-11-06       Impact factor: 4.379
  10 in total

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