Associated Papers
TITINdb2-expanding annotation and structural information for protein variants in the giant sarcomeric protein titin.
Weston T et al.
Bioinformatics Advances, 2025
40270927 (PubMed )
Supplement: vbaf062_supplementary_data.docx
Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.
Wang G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Evilä A et al.
Molecular Neurobiology, 2017
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Savarese M et al.
Journal of Neuromuscular Diseases, 2016
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Charton K et al.
Human Molecular Genetics, 2015
The sarcomeric M-region: a molecular command center for diverse cellular processes.
Hu LY et al.
Biomed Research International, 2015
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.
Izumi R et al.
Journal of Human Genetics, 2013
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
Hackman P et al.
Neuromuscular Disorders : Nmd, 2008
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
Weston TGR et al.
Wires Mechanisms of Disease, 0
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