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Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction

ABSTRACT: Analysis of protein composition of zebrafish ttn.2 truncation variants ( e129-end of I-band ttn.2 and e232-end of A-band ttn.2 compared with wild type).

INSTRUMENT(S):

ORGANISM(S): Zebrafish Metagenome

SUBMITTER: xiaoping yang

LAB HEAD: Prof. Mathias Gautel

PROVIDER: PXD071430 | Pride | 2026-02-09

REPOSITORIES: Pride

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			Action	DRS
	002dad9d-c2c4-433f-a90a-902f0ae54892.2025-08-06.log	Other
	0422bb9b-7eee-4cc5-80c4-cf5857881a5a.obj	Other
	047878ea-23ba-4d68-aec1-9a68596e0e83.2025-08-07.log	Other
	06765e2e-4c13-460e-82e8-f5958b133055.2025-08-06.log	Other
	06ceba23-00d2-4ac7-8cd5-ca2c9026c2f5.2025-08-08.log	Other

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Publications

Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction Associated With Truncating Titin (<i>ttn.2</i>) Variants.

Santiago Celine F CF Huttner Inken G IG O'Brien Ailbhe K AK Amerudin Melissa A B MAB Bennett Pauline M PM Cvetkovska Jasmina J Chand Renee R Holt Mark M Trivedi Gunjan G Wang Louis W LW Yang Xiaoping X Smith Kelly A KA Gautel Mathias M Fatkin Diane D Hinits Yaniv Y

Circulation research 20260107 3

<h4>Background</h4>Truncating variants in the <i>TTN</i> gene (<i>TTN</i>tv), encoding the giant sarcomeric protein titin, cause a range of human cardiac and skeletal muscle disorders of varying penetrance and severity. The effects of variant location on clinical manifestations are incompletely understood.<h4>Methods</h4>We generated 6 zebrafish lines carrying truncating <i>ttn.2</i> variants in the Z-disk, I-band, A-band, and M-band titin regions. Expression of titin transcripts and protein lev ...[more]

PMID: 41498146

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