A Rising Titan:TTNReview and Mutation Update

Atypical phenotypes in titinopathies explained by second titin mutations

(2014) Anni Evilä et al.   ANNALS OF NEUROLOGY

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

(2014) Gerald Pfeffer et al.   BRAIN

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

(2014) Stephan Lange et al.   BRAIN

Titinopathy in a Canadian Family Sharing the British Founder Haplotype

(2014) Gerald Pfeffer et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Gigantic Business

(2014) Wolfgang A. Linke et al.   CIRCULATION RESEARCH

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

(2014) Trevor J. Pugh et al.   GENETICS IN MEDICINE

Human myocytes are protected from titin aggregation-induced stiffening by small heat shock proteins

(2014) Sebastian Kötter et al.   JOURNAL OF CELL BIOLOGY

Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain

(2014) Carola Hedberg et al.   NEUROMUSCULAR DISORDERS

New titin (connectin) isoforms and their functional role in striated muscles of mammals: Facts and suppositions

(2013) I. M. Vikhlyantsev et al.   BIOCHEMISTRY-MOSCOW

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

(2013) Camilo Toro et al.   BMC Neurology

Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

(2013) Carola Hedberg et al.   BRAIN

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

(2013) Gerald Pfeffer et al.   BRAIN

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

(2013) Roberta Roncarati et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

(2013) C. Chauveau et al.   HUMAN MOLECULAR GENETICS

Titin Mutation in Familial Restrictive Cardiomyopathy

(2013) Yael Peled et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure

(2013) Rumiko Izumi et al.   JOURNAL OF HUMAN GENETICS

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

(2013) Luis R Lopes et al.   JOURNAL OF MEDICAL GENETICS

Hereditary myopathy with early respiratory failure: occurrence in various populations

(2013) J. Palmio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

(2013) G. Pfeffer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

(2013) Ray E. Hershberger et al.   Nature Reviews Cardiology

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

(2013) O. Ceyhan-Birsoy et al.   NEUROLOGY

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure

(2013) Gerald Pfeffer et al.   NEUROMUSCULAR DISORDERS

Structure of giant muscle proteins

(2013) Logan C. Meyer et al.   Frontiers in Physiology

Next generation sequencing for molecular diagnosis of neuromuscular diseases

(2012) Nasim Vasli et al.   ACTA NEUROPATHOLOGICA

A Novel Titin Mutation in Adult-Onset Familial Dilated Cardiomyopathy

(2012) Guy Yoskovitz et al.   AMERICAN JOURNAL OF CARDIOLOGY

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

(2012) Monica Ohlsson et al.   BRAIN

Titin mutation segregates with hereditary myopathy with early respiratory failure

(2012) Gerald Pfeffer et al.   BRAIN

Smyd2 controls cytoplasmic lysine methylation of Hsp90 and myofilament organization

(2012) L. T. Donlin et al.   GENES & DEVELOPMENT

Genetic Therapeutic Approaches for Duchenne Muscular Dystrophy

(2012) Helen Foster et al.   HUMAN GENE THERAPY

A Novel Mechanism Involving Four-and-a-half LIM Domain Protein-1 and Extracellular Signal-regulated Kinase-2 Regulates Titin Phosphorylation and Mechanics

(2012) Anna Raskin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes

(2011) Matthew Taylor et al.   CIRCULATION

Mechanisms of disease: hypertrophic cardiomyopathy

(2011) Norbert Frey et al.   Nature Reviews Cardiology

Distal myopathies – New genetic entities expand diagnostic challenge

(2011) Bjarne Udd   NEUROMUSCULAR DISORDERS

The genetics of dilated cardiomyopathy

(2010) Lisa Dellefave et al.   CURRENT OPINION IN CARDIOLOGY

Molecular basis of the head-to-tail assembly of giant muscle proteins obscurin-like 1 and titin

(2010) Florian Sauer et al.   EMBO REPORTS

A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle

(2010) Lydie Laure et al.   FEBS Journal

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies

(2010) Karine Charton et al.   HUMAN MOLECULAR GENETICS

Interactions with M-band Titin and Calpain 3 Link Myospryn (CMYA5) to Tibial and Limb-girdle Muscular Dystrophies

(2010) Jaakko Sarparanta et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Titin Diversity—Alternative Splicing Gone Wild

(2010) Wei Guo et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Centronuclear myopathies: A widening concept

(2010) Norma Beatriz Romero   NEUROMUSCULAR DISORDERS

Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex

(2010) S. Pernigo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tuning Passive Mechanics through Differential Splicing of Titin during Skeletal Muscle Development

(2009) Coen A.C. Ottenheijm et al.   BIOPHYSICAL JOURNAL

Bin1 Src Homology 3 Domain Acts as a Scaffold for Myofiber Sarcomere Assembly

(2009) Pasan Fernando et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cardiac Ankyrin Repeat Protein Gene (ANKRD1) Mutations in Hypertrophic Cardiomyopathy

(2009) Takuro Arimura et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Muscle Giants: Molecular Scaffolds in Sarcomerogenesis

(2009) Aikaterini Kontrogianni-Konstantopoulos et al.   PHYSIOLOGICAL REVIEWS

Single-Molecule Force Spectroscopy Reveals a Stepwise Unfolding of Caenorhabditis elegans Giant Protein Kinase Domains

(2008) Dina N. Greene et al.   BIOPHYSICAL JOURNAL

Protein Kinase G Modulates Human Myocardial Passive Stiffness by Phosphorylation of the Titin Springs

(2008) Martina Krüger et al.   CIRCULATION RESEARCH

Smooth Muscle Titin Zq Domain Interaction with the Smooth Muscle α-Actinin Central Rod

(2008) Richard J. Chi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Multiple Molecular Interactions Implicate the Connectin/Titin N2A Region as a Modulating Scaffold for p94/Calpain 3 Activity in Skeletal Muscle

(2008) Chikako Hayashi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band - implications for hereditary myopathies

(2008) A. Fukuzawa et al.   JOURNAL OF CELL SCIENCE

An FHL1-containing complex within the cardiomyocyte sarcomere mediates hypertrophic biomechanical stress responses in mice

(2008) Farah Sheikh et al.   JOURNAL OF CLINICAL INVESTIGATION

Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance

(2008) Jacques S. Beckmann et al.   NEUROMUSCULAR DISORDERS

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

(2008) Peter Hackman et al.   NEUROMUSCULAR DISORDERS