Titin Allelic Expression and Protein Processing Pathways in Early-Stage Dilated Cardiomyopathy Patients With Truncating Titin Variants

Sophie L V M Stroeks^{1

2}, Daan van Beek³, Michiel E Adriaens³, Job A J Verdonschot^{1

4}

Affiliations

¹ Department of Cardiology, Cardiovascular Research Institute (CARIM), Maastricht, The Netherlands (S.L.V.M.S., J.A.J.V.).
² KU Leuven, Cardiovascular Sciences, Belgium (S.L.V.M.S.).
³ Maastricht Centre for Systems Biology, Maastricht University, The Netherlands (D.v.B., M.E.A.).
⁴ Department of Clinical Genetics, Maastricht University Medical Center, The Netherlands (J.A.J.V.).

Comment

Sophie L V M Stroeks et al. Circ Genom Precis Med. 2023 Feb.

. 2023 Feb;16(1):e003901.

doi: 10.1161/CIRCGEN.122.003901. Epub 2023 Jan 30.

Sophie L V M Stroeks^{1

2}, Daan van Beek³, Michiel E Adriaens³, Job A J Verdonschot^{1

4}

¹ Department of Cardiology, Cardiovascular Research Institute (CARIM), Maastricht, The Netherlands (S.L.V.M.S., J.A.J.V.).
² KU Leuven, Cardiovascular Sciences, Belgium (S.L.V.M.S.).
³ Maastricht Centre for Systems Biology, Maastricht University, The Netherlands (D.v.B., M.E.A.).
⁴ Department of Clinical Genetics, Maastricht University Medical Center, The Netherlands (J.A.J.V.).

No abstract available

Keywords: RNA; alleles; cardiomyopathy; haploinsufficiency; sequence analysis.

Comment on

Truncated titin proteins in dilated cardiomyopathy.
McAfee Q, Chen CY, Yang Y, Caporizzo MA, Morley M, Babu A, Jeong S, Brandimarto J, Bedi KC Jr, Flam E, Cesare J, Cappola TP, Margulies K, Prosser B, Arany Z. McAfee Q, et al. Sci Transl Med. 2021 Nov 3;13(618):eabd7287. doi: 10.1126/scitranslmed.abd7287. Epub 2021 Nov 3. Sci Transl Med. 2021. PMID: 34731015 Free PMC article.