Leucine rich repeat proteins: sequences, mutations, structures and diseases

N Matsushima, S Takatsuka, H Miyashita… - Protein and peptide …, 2019 - ingentaconnect.com
Mutations in the genes encoding Leucine Rich Repeat (LRR) containing proteins are
associated with over sixty human diseases; these include high myopia, mitochondrial …

Gonadotropins and their analogs: current and potential clinical applications

RC Anderson, CL Newton, RA Anderson… - Endocrine …, 2018 - academic.oup.com
The gonadotropin receptors LH receptor and FSH receptor play a central role in governing
reproductive competency/fertility. Gonadotropin hormone analogs have been used clinically …

AI protein structure prediction-based modeling and mutagenesis of a protostome receptor and peptide ligands reveal key residues for their interaction

SQ Guo, YD Li, P Chen, G Zhang, HY Wang… - Journal of Biological …, 2022 - ASBMB
The protostome leucokinin (LK) signaling system, including LK peptides and their G protein-
coupled receptors, has been characterized in several species. Despite the progress …

Genetic variants of gonadotrophins and their receptors: Impact on the diagnosis and management of the infertile patient

A Rivero-Müller, I Huhtaniemi - Best Practice & Research Clinical …, 2022 - Elsevier
This narrative review is concerned with genetic variants of the genes encoding
gonadotrophin subunits and their receptors, as well as their implications into the diagnosis …

Small molecule follicle-stimulating hormone receptor agonists and antagonists

RC Anderson, CL Newton, RP Millar - Frontiers in endocrinology, 2019 - frontiersin.org
The follicle-stimulating hormone receptor (FSHR) has been targeted therapeutically for
decades, due to its pivotal role in reproduction. To date, only purified and …

Glycoprotein G-protein coupled receptors in disease: luteinizing hormone receptors and follicle stimulating hormone receptors

D Althumairy, X Zhang, N Baez, G Barisas, DA Roess… - Diseases, 2020 - mdpi.com
Signal transduction by luteinizing hormone receptors (LHRs) and follicle-stimulating
hormone receptors (FSHRs) is essential for the successful reproduction of human beings …

Novel mutations in LHCGR (luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndrome

Z Zhang, L Wu, F Diao, B Chen, J Fu, X Mao… - Journal of Assisted …, 2020 - Springer
Purpose To screen novel mutations in LHCGR responsible for empty follicle syndrome and
explore the pathological mechanism of mutations. Methods Four affected individuals …

Rescue of cell surface expression and signaling of mutant follicle-stimulating hormone receptors

S Hanyroup, RC Anderson, S Nataraja, HN Yu… - …, 2021 - academic.oup.com
Mutations in G protein-coupled receptors (GPCRs) underlie numerous diseases. Many
cause receptor misfolding and failure to reach the cell surface. Pharmacological chaperones …

Misfolded G protein-coupled receptors and endocrine disease. Molecular mechanisms and therapeutic prospects

A Ulloa-Aguirre, T Zariñán… - International Journal of …, 2021 - mdpi.com
Misfolding of G protein-coupled receptors (GPCRs) caused by mutations frequently leads to
disease due to intracellular trapping of the conformationally abnormal receptor. Several …

Two C-terminal isoforms of Aplysia tachykinin–related peptide receptors exhibit phosphorylation-dependent and phosphorylation-independent desensitization …

R Mao, S Guo, G Zhang, Y Li, J Xu, H Wang, P Fu… - Journal of Biological …, 2024 - jbc.org
Diversity, a hallmark of G protein-coupled receptor (GPCR) signaling, partly stems from
alternative splicing of a single gene generating more than one isoform for a receptor …