A novel biallelic variant in the Popeye domain‐containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25
POPDC1 also known as BVES, is a highly conserved transmembrane protein, important for
striated muscle function and homeostasis. Pathogenic variants in the POPDC1 gene are …
striated muscle function and homeostasis. Pathogenic variants in the POPDC1 gene are …
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking
AH Swan, RFR Schindler, M Savarese, I Mayer… - Acta neuropathologica …, 2023 - Springer
The Popeye domain containing (POPDC) genes encode sarcolemma-localized cAMP
effector proteins. Mutations in blood vessel epicardial substance (BVES) also known as …
effector proteins. Mutations in blood vessel epicardial substance (BVES) also known as …
A novel splice site variant in the POPDC3 causes autosomal recessive limb‐girdle muscular dystrophy type 26
L Zhang, W Li, Y Weng, K Lin, K Huang, S Ma… - Clinical …, 2022 - Wiley Online Library
Limb‐Girdle muscular dystrophy (LGMD) is a group of muscle disorders with highly
heterogeneous genetic patterns and clinical phenotypes, and this group includes multiple …
heterogeneous genetic patterns and clinical phenotypes, and this group includes multiple …
Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes
Background Population diversity is important and rare disease isolates can frequently reveal
novel homozygous or biallelic mutations that lead to expanded clinical heterogeneity, with …
novel homozygous or biallelic mutations that lead to expanded clinical heterogeneity, with …
Progress on the study of Popeye domain‐containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis
CC Sun, Z Zhao, XY Peng, L Zheng… - Clinical Genetics, 2023 - Wiley Online Library
The Popeye domain‐containing protein 3 (POPDC3), a transmembrane protein with a
unique cyclic adenosine monophosphate (cAMP) binding site, is widely expressed in …
unique cyclic adenosine monophosphate (cAMP) binding site, is widely expressed in …
Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia
Background: T-box family members are transcription factors characterized by highly
conserved residues corresponding to the DNA-binding domain known as the T-box. TBX2 …
conserved residues corresponding to the DNA-binding domain known as the T-box. TBX2 …
Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb‐girdle muscular dystrophy
X Zhao, C Gao, L Li, L Jiang, Y Wei… - International Journal of …, 2023 - Wiley Online Library
Objective Mutations in protein O‐mannosyltransferase 2 (POMT2)(MIM# 607439) have been
identified in severe congenital muscular dystrophy such as Walker–Warburg syndrome …
identified in severe congenital muscular dystrophy such as Walker–Warburg syndrome …
Autosomal Recessive Limb-Girdle Muscular Dystrophies
J Tanboon, I Nishino - Principles and Practice of the Muscular Dystrophies, 2024 - Springer
Limb-girdle muscular dystrophy (LGMD) is a hereditary condition primarily affecting skeletal
muscle, characterized by progressive, predominantly proximal weakness of the muscles of …
muscle, characterized by progressive, predominantly proximal weakness of the muscles of …
Differential Effects of Mutations of Popeye Domain Containing Proteins on Heteromeric Interaction and Membrane Trafficking
AH Swan, RFR Schindler, M Savarese, I Mayer… - bioRxiv, 2022 - biorxiv.org
Abstract Background The Popeye domain containing (POPDC) genes encode sarcolemma-
localised cAMP effector proteins. Mutations in BVES (POPDC1) and POPDC2 have been …
localised cAMP effector proteins. Mutations in BVES (POPDC1) and POPDC2 have been …
A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype
W De Ridder, G de Vries, K Van Schil… - Neuromuscular …, 2023 - Elsevier
Recessive pathogenic variants in POPDC3 have recently been associated with the rare limb-
girdle muscular dystrophy (LGMD) subtype LGMDR26. We studied three siblings and a …
girdle muscular dystrophy (LGMD) subtype LGMDR26. We studied three siblings and a …