[HTML][HTML] Membrane proteins structures: A review on computational modeling tools

JG Almeida, AJ Preto, PI Koukos, AMJJ Bonvin… - … et Biophysica Acta (BBA …, 2017 - Elsevier
Abstract Background Membrane proteins (MPs) play diverse and important functions in
living organisms. They constitute 20% to 30% of the known bacterial, archaean and …

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

M Solaki, B Baumann, P Reuter, S Andreasson… - Human …, 2022 - Wiley Online Library
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by
impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six …

Structure-encoded global motions and their role in mediating protein-substrate interactions

I Bahar, MH Cheng, JY Lee, C Kaya, S Zhang - Biophysical journal, 2015 - cell.com
Recent structure-based computational studies suggest that, in contrast to the classical
description of equilibrium fluctuations as wigglings and jigglings, proteins have access to …

[HTML][HTML] Applications of sequence coevolution in membrane protein biochemistry

JM Nicoludis, R Gaudet - Biochimica et Biophysica Acta (BBA) …, 2018 - Elsevier
Recently, protein sequence coevolution analysis has matured into a predictive powerhouse
for protein structure and function. Direct methods, which use global statistical models of …

Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing

P Reuter, M Walter, S Kohl, N Weisschuh - Scientific Reports, 2023 - nature.com
Achromatopsia is an autosomal recessive cone photoreceptor disease that is frequently
caused by pathogenic variants in the CNGA3 gene. Here, we present a systematic functional …

Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia

M Solaki, B Wissinger, S Kohl, P Reuter - Genetics in Medicine, 2023 - Elsevier
Purpose CNGA3 encoding the main subunit of the cyclic nucleotide-gated ion channel in
cone photoreceptors is one of the major disease-associated genes for achromatopsia. Most …

Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia

FF Li, XF Huang, J Chen, XD Yu, MQ Zheng… - Journal of Translational …, 2015 - Springer
Background Achromatopsia (ACHM) is a severe congenital autosomal recessive retinal
disorder caused by loss of cone photoreceptors. Here, we aimed to determine the …

Cyclic GMP Signaling

Y Gao - Biology of Vascular Smooth Muscle: Vasoconstriction …, 2022 - Springer
Abstract Guanosine 3′ 5′ cyclic monophosphate (cGMP) is synthesized by soluble
guanylyl cyclase (sGC) when vascular smooth muscle is stimulated with nitric oxide (NO) …

Characterization of the interaction between high-risk human papillomaviruses and the host protein kinase A pathway

P McCormack - 2020 - etheses.bham.ac.uk
High-risk human papillomaviruses (HPV) infect squamous epithelia and cause
hyperproliferative lesions that can progress to cancer. During infection, the virus interacts …

[HTML][HTML] Emerging Treatments for Achromatopsia

AM KOMÁROMY - retinalphysician.com
C one photoreceptor dystrophies are a group of rare eye disorders that cause visual
impairments from early in life. Achromatopsia is an inherited cone dystrophy with visual …