POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy

Untangling the complexity of limb-girdle muscular dystrophies

(2018) Teerin Liewluck et al.   MUSCLE & NERVE

creat229 th ENMC international workshop: Limb girdle muscular dystrophies – nomenclature and reformed classification, 17-19 March 2017, Naarden, The Netherlands

(2018) Volker Straub et al.   NEUROMUSCULAR DISORDERS

Glycogen Synthesis in Glycogenin 1–Deficient Patients: A Role for Glycogenin 2 in Muscle

(2017) Thomas O Krag et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

(2017) Katherine Johnson et al.   Orphanet Journal of Rare Diseases

The potassium channels TASK2 and TREK1 regulate functional differentiation of murine skeletal muscle cells

(2016) Ali M. Afzali et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Identification of mutations in theMYO9Agene in patients with congenital myasthenic syndrome

(2016) Emily O’Connor et al.   BRAIN

Limb girdle muscular dystrophies

(2016) John Vissing   CURRENT OPINION IN NEUROLOGY

Zebrafish as a Model for Human Ciliopathies

(2016) Zhu Song et al.   Journal of Genetics and Genomics

Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease

(2016) Thomas O. Krag et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Limb-girdle muscular dystrophies — international collaborations for translational research

(2016) Rachel Thompson et al.   Nature Reviews Neurology

A Proteomics Approach to Identify New Putative Cardiac Intercalated Disk Proteins

(2016) Siddarth Soni et al.   PLoS One

The Popeye domain containing protein family – A novel class of cAMP effectors with important functions in multiple tissues

(2016) Roland F.R. Schindler et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

(2015) Roland F.R. Schindler et al.   JOURNAL OF CLINICAL INVESTIGATION

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

The cAMP-binding Popdc proteins have a redundant function in the heart

(2014) Thomas Brand et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

The Popeye domain containing 2 (popdc2) gene in zebrafish is required for heart and skeletal muscle development

(2012) Bettina C. Kirchmaier et al.   DEVELOPMENTAL BIOLOGY

Popeye domain containing proteins are essential for stress-mediated modulation of cardiac pacemaking in mice

(2012) Alexander Froese et al.   JOURNAL OF CLINICAL INVESTIGATION

Muscle MRI findings in limb girdle muscular dystrophy type 2L

(2012) Anna Sarkozy et al.   NEUROMUSCULAR DISORDERS

Reduced Popdc3 expression correlates with high risk and poor survival in patients with gastric cancer

(2012) Deng Luo   WORLD JOURNAL OF GASTROENTEROLOGY

Frequent silencing of popeye domain-containing genes, BVES and POPDC3 , is associated with promoter hypermethylation in gastric cancer

(2010) Mirang Kim et al.   CARCINOGENESIS

Several Novel Nuclear Envelope Transmembrane Proteins Identified in Skeletal Muscle Have Cytoskeletal Associations

(2010) Gavin S. Wilkie et al.   MOLECULAR & CELLULAR PROTEOMICS

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)

(2008) Paul Thornhill et al.   BRAIN