Results 111 to 120 of about 181,206 (262)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Conformational Stability of 3-aminopropionitrile: DFT and Ab initio Calculations

Acta Chimica Slovenica
Many conformers of 3-aminopropionitrile are known. Due to the biomedical importance of 3-aminopropionitrile a full investigation of structural, vibrational, and other associated properties of all possible conformers was performed.
Ashraf Al Msiedeen
doaj   +1 more source

Molecular Determinants of Human Rhinovirus Infection, Assembly, and Conformational Stability at Capsid Protein Interfaces. [PDF]

J Virol, 2022
Valiente L, López-Argüello S, Rodríguez-Huete A, Valbuena A, Mateu MG.   +4 more
europepmc   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Preparation, Thermal Behavior, and Conformational Stability of HMX/Cyclopentanone Cocrystallization

Crystals
The cocrystallization of 1,3,5,7-tetranitro-1,3,5,7-tetrazolidine (HMX) with cyclopentanone was achieved via a controlled cooling method, followed by comprehensive characterization that confirmed the α-configuration of HMX within the cocrystal.
Yuting Tao, Shaohua Jin, Tongbin Wang, Chongchong She, Kun Chen, Junfeng Wang, Lijie Li   +6 more
doaj   +1 more source

Unmasking the Conformational Stability and Inhibitor Binding to SARS-CoV-2 Main Protease Active Site Mutants and Miniprecursor. [PDF]

J Mol Biol, 2022
Kovalevsky A, Coates L, Kneller DW, Ghirlando R, Aniana A, Nashed NT, Louis JM.   +6 more
europepmc   +1 more source

Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay, Merve Alaylioglu, Erdi Sahin, Sanem Sultan Yoruk Oner, Gulce Iskan, Gulce Cosku Yilmaz Cakan, Gozde Kizilates‐Evin, Emre Hari, Elif Kurt, Erdinc Dursun, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Tamer Demiralp, Duygu Gezen‐Ak, Bedia Samanci   +15 more
wiley   +1 more source

High-throughput thermal denaturation of tryptophanyl-tRNA synthetase combinatorial mutants reveals high-order energetic coupling determinants of conformational stability. [PDF]

Struct Dyn, 2023
Weinreb V, Weinreb G, Carter CW.
europepmc   +1 more source

Molecular Dynamics Studies of Shape Memory Polymers: From Bead–Spring Models to Atomistic Simulations

Advanced Engineering Materials, EarlyView.
Coarse‐grained (left) and atomistic (right) models of the shape memory polymer ESTANE ETE 75DT3 are shown schematically. The two representations bridge molecular detail and mesoscopic description. Both models capture shape memory behavior, linking segmental mobility and conformational relaxation of anisotropic chains to macroscopic recovery, and ...
Fathollah Varnik
wiley   +1 more source

Structural insights into conformational stability and binding of thiazolo-[2,3-b] quinazolinone derivatives with EGFR-TKD and in-vitro study. [PDF]

Saudi J Biol Sci, 2022
Ahmad Mir S, Paramita Mohanta P, Kumar Meher R, Baitharu I, Kumar Raval M, Kumar Behera A, Nayak B.   +6 more
europepmc   +1 more source