BibTex format
@unpublished{Swan:2022:10.1101/2022.10.13.511879,
author = {Swan, AH and Schindler, RFR and Savarese, M and Mayer, I and Rinné, S and Bleser, F and Schänzer, A and Hahn, A and Sabatelli, M and Perna, F and Chapman, K and Pfuhl, M and Spivey, AC and Decher, N and Udd, B and Tasca, G and Brand, T},
doi = {10.1101/2022.10.13.511879},
title = {Differential Effects of Mutations of Popeye Domain Containing Proteins on Heteromeric Interaction and Membrane Trafficking},
url = {http://dx.doi.org/10.1101/2022.10.13.511879},
year = {2022}
}
RIS format (EndNote, RefMan)
TY - UNPB
AB - <jats:title>Abstract</jats:title> <jats:sec> <jats:title>Background</jats:title> <jats:p> The Popeye domain containing (POPDC) genes encode sarcolemma-localised cAMP effector proteins. Mutations in <jats:italic>BVES (POPDC1)</jats:italic> and <jats:italic>POPDC2</jats:italic> have been associated with limb-girdle muscular dystrophy and cardiac arrhythmia. Muscle biopsies of affected patients display impaired membrane trafficking of both POPDC isoforms. </jats:p> </jats:sec> <jats:sec> <jats:title>Methods</jats:title> <jats:p> Biopsy material of patients carrying mutations in <jats:italic>BVES</jats:italic> were immunostained with POPDC antibodies. The interaction of POPDC proteins was investigated by co-precipitation, proximity ligation, bioluminescence resonance energy transfer and bimolecular fluorescence complementation. Site-directed mutagenesis was utilised to map the domains involved in protein interaction. </jats:p> </jats:sec> <jats:sec> <jats:title>Findings</jats:title> <jats:p> Patients carrying a novel homozygous variant, <jats:italic>BVES</jats:italic> (c.547G>T, p.V183F) displayed only a skeletal muscle pathology and a mild impairment of membrane trafficking of both POPDC isoforms. This is in contrast to variants such as <jats:italic>BVES</jats:italic> p.Q153X or <jats:italic>POPDC2</jats:italic>
AU - Swan,AH
AU - Schindler,RFR
AU - Savarese,M
AU - Mayer,I
AU - Rinné,S
AU - Bleser,F
AU - Schänzer,A
AU - Hahn,A
AU - Sabatelli,M
AU - Perna,F
AU - Chapman,K
AU - Pfuhl,M
AU - Spivey,AC
AU - Decher,N
AU - Udd,B
AU - Tasca,G
AU - Brand,T
DO - 10.1101/2022.10.13.511879
PY - 2022///
TI - Differential Effects of Mutations of Popeye Domain Containing Proteins on Heteromeric Interaction and Membrane Trafficking
UR - http://dx.doi.org/10.1101/2022.10.13.511879
UR - https://doi.org/10.1101/2022.10.13.511879
ER -