Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture-Reference-Cited by-同舟云学术

Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

Published:2013-03 Issue:3 Volume:34 Page:525-537
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Romano Alessandro¹,Tessa Alessandra²,Barca Amilcare¹,Fattori Fabiana³,Fulvia de Leva Maria⁴,Terracciano Alessandra³,Storelli Carlo¹,Santorelli Filippo Maria²,Verri Tiziano¹

Affiliation:

1. Department of Biological and Environmental Sciences and Technologies University of Salento Lecce Italy

2. Neurogenetics and Molecular Medicine IRCCS Fondazione Stella Maris Pisa Italy

3. Neuromuscular Unit IRCCS Bambino Gesù Hospital Rome Italy

4. Department of Neurology Federico II University Naples Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22269

Reference56 articles.

1. The Sacsin Repeating Region (SRR): A Novel Hsp90-Related Supra-Domain Associated with Neurodegeneration

2. The Neurodegenerative-Disease-Related Protein Sacsin Is a Molecular Chaperone

3. Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS

4. Ataxie spastique autosomique récessive de Charlevoix-Saguenay : étude d’une famille et revue de la littérature

5. Mutations in SACS cause atypical and late-onset forms of ARSACS

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