Mutations in G protein–coupled receptors: mechanisms, pathophysiology and potential therapeutic approaches
There are approximately 800 annotated G protein–coupled receptor (GPCR) genes, making
these membrane receptors members of the most abundant gene family in the human …
these membrane receptors members of the most abundant gene family in the human …
The role of GPCRs in bone diseases and dysfunctions
The superfamily of G protein-coupled receptors (GPCRs) contains immense structural and
functional diversity and mediates a myriad of biological processes upon activation by …
functional diversity and mediates a myriad of biological processes upon activation by …
Phenotypic expansion illuminates multilocus pathogenic variation
Purpose Multilocus variation—pathogenic variants in two or more disease genes—can
potentially explain the underlying genetic basis for apparent phenotypic expansion in cases …
potentially explain the underlying genetic basis for apparent phenotypic expansion in cases …
Adhesion G protein-coupled receptors: opportunities for drug discovery
F Bassilana, M Nash, MG Ludwig - Nature reviews Drug discovery, 2019 - nature.com
Adhesion G protein-coupled receptors (aGPCRs)—one of the five main families in the GPCR
superfamily—have several atypical characteristics, including large, multi-domain N termini …
superfamily—have several atypical characteristics, including large, multi-domain N termini …
Ligands and beyond: Mechanosensitive adhesion GPCRs
HH Lin, KF Ng, TC Chen, WY Tseng - Pharmaceuticals, 2022 - mdpi.com
Cells respond to diverse types of mechanical stimuli using a wide range of plasma
membrane-associated mechanosensitive receptors to convert extracellular mechanical cues …
membrane-associated mechanosensitive receptors to convert extracellular mechanical cues …
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
A Cortese, SJ Beecroft, S Facchini, R Curro… - Nature …, 2024 - nature.com
Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis,
dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and …
dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and …
Peripheral nervous system (PNS) myelin diseases
SS Scherer, J Svaren - Cold Spring Harbor Perspectives …, 2024 - cshperspectives.cshlp.org
This is a review of inherited and acquired causes of human demyelinating neuropathies and
a subset of disorders that affect axon–Schwann cell interactions. Nearly all inherited …
a subset of disorders that affect axon–Schwann cell interactions. Nearly all inherited …
Adhesion G protein–coupled receptors as drug targets
RH Purcell, RA Hall - Annual review of pharmacology and …, 2018 - annualreviews.org
The adhesion G protein–coupled receptors (aGPCRs) are an evolutionarily ancient family of
receptors that play key roles in many different physiological processes. These receptors are …
receptors that play key roles in many different physiological processes. These receptors are …
The function of the cellular prion protein in health and disease
The essential role of the cellular prion protein (PrP C) in prion disorders such as Creutzfeldt–
Jakob disease is well documented. Moreover, evidence is accumulating that PrP C may act …
Jakob disease is well documented. Moreover, evidence is accumulating that PrP C may act …
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
EJ Todd, KS Yau, R Ong, J Slee, G McGillivray… - Orphanet Journal of …, 2015 - Springer
Background Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies
are heterogeneous conditions usually presenting before or at birth. Although numerous …
are heterogeneous conditions usually presenting before or at birth. Although numerous …