Literature DB >> 21438761

Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.

Francesca Avemaria1, Christian Lunetta, Claudia Tarlarini, Lorena Mosca, Eleonora Maestri, Alessandro Marocchi, Mario Melazzini, Silvana Penco, Massimo Corbo.   

Abstract

We report an Italian male with juvenile onset familial disease characterized by progressive weakness and wasting of four limbs and prolonged survival. Diagnostic work-up revealed the diffuse involvement of central and peripheral motor neurons. Genetic analysis revealed a L389S mutation in the senataxin (SETX) gene.

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21438761     DOI： 10.3109/17482968.2011.566930

Source DB:  PubMed          Journal:  Amyotroph Lateral Scler        ISSN： 1471-180X


  9 in total

1.  The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.

Authors:  Larissa Arning; Jörg T Epplen; Elisa Rahikkala; Corinna Hendrich; Albert C Ludolph; Anne-Dorte Sperfeld
Journal:  Neurogenetics       Date:  2012-11-06       Impact factor: 2.660

2.  High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.

Authors:  Kornélia Tripolszki; Dóra Török; David Goudenège; Katalin Farkas; Adrienn Sulák; Nóra Török; József I Engelhardt; Péter Klivényi; Vincent Procaccio; Nikoletta Nagy; Márta Széll
Journal:  Brain Behav       Date:  2017-03-15       Impact factor: 2.708

3.  Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly.

Authors:  Craig L Bennett; Bryce L Sopher; Albert R La Spada
Journal:  Heliyon       Date:  2020-06-13

Review 4.  A Systematic Review of Genotype-Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS.

Authors:  Owen Connolly; Laura Le Gall; Gavin McCluskey; Colette G Donaghy; William J Duddy; Stephanie Duguez
Journal:  J Pers Med       Date:  2020-06-29

5.  De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.

Authors:  Aristides Hadjinicolaou; Kathie J Ngo; Daniel Y Conway; John P Provias; Steven K Baker; Lauren I Brady; Craig L Bennett; Albert R La Spada; Brent L Fogel; Grace Yoon
Journal:  Acta Neuropathol Commun       Date:  2021-12-18       Impact factor: 7.801

6.  Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.

Authors:  Craig L Bennett; Somasish G Dastidar; Shuo-Chien Ling; Bilal Malik; Travis Ashe; Mandheer Wadhwa; Derek B Miller; Changwoo Lee; Matthew B Mitchell; Michael A van Es; Christopher Grunseich; Yingzhang Chen; Bryce L Sopher; Linda Greensmith; Don W Cleveland; Albert R La Spada
Journal:  Acta Neuropathol       Date:  2018-05-03       Impact factor: 17.088

7.  Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.

Authors:  Craig L Bennett; Yingzhang Chen; Marissa Vignali; Russell S Lo; Amanda G Mason; Asli Unal; Nabiha P Huq Saifee; Stanley Fields; Albert R La Spada
Journal:  PLoS One       Date:  2013-11-11       Impact factor: 3.240

8.  TDP-43 dysfunction results in R-loop accumulation and DNA replication defects.

Authors:  Matthew Wood; Annabel Quinet; Yea-Lih Lin; Albert A Davis; Philippe Pasero; Yuna M Ayala; Alessandro Vindigni
Journal:  J Cell Sci       Date:  2020-10-30       Impact factor: 5.285

9.  Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4.

Authors:  Christopher Grunseich; Aneesh Patankar; Joshua Amaya; Jason A Watts; Dongjun Li; Prisila Ramirez; Alice B Schindler; Kenneth H Fischbeck; Vivian G Cheung
Journal:  Ann Neurol       Date:  2020-01-28       Impact factor: 10.422
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.