Increasing Role of Titin Mutations in Neuromuscular Disorders

Author:

Savarese Marco1,Sarparanta Jaakko12,Vihola Anna1,Udd Bjarne134,Hackman Peter1

Affiliation:

1. Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland

2. Albert Einstein College of Medicine, Departments of Medicine– Endocrinology and Molecular Pharmacology, Bronx, NY, USA

3. Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland

4. Department of Neurology, Vaasa Central Hospital, Vaasa, Finland

Publisher

IOS Press

Subject

Clinical Neurology,Neurology

Reference114 articles.

1. The Complete Gene Sequence of Titin, Expression of an Unusual â‰^700-kDa Titin Isoform, and Its Interaction With Obscurin Identify a Novel Z-Line to I-Band Linking System;Bang;Circulation Research,2001

2. Muscle giants: Molecular scaffolds in sarcomerogenesis;Kontrogianni-Konstantopoulos;Physiological Reviews,2009

3. Characterizing titin’s I-band Ig domain region as an entropic spring;Linke;Journal of Cell Science,1998

4. PEVK domain of titin An entropic spring with actin-binding properties;Linke;Journal of Structural Biology,2002

5. Mechanoenzymatics of titin kinase;Puchner;Proc Natl Acad Sci U S A,2008

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