Results 51 to 60 of about 67,091 (268)
Guiding AlphaFold to predict how Munc13‐1 opens Syntaxin‐1
FEBS Open Bio, EarlyView.The syntaxin‐1 Habc‐domain (orange), linker (pink) and SNARE motif (yellow) form a closed conformation that binds to Munc18‐1 (violet) and is opened by the Munc13‐1 MUN domain (cyan) to form the SNARE complex that triggers neurotransmitter release.
Madhurima Chattopadhyay +2 more
wiley +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
EmbeddedMultisensorSystems/EMS-SymINSGNSS v1.0.0
, 2018 This software package is a simple basic demonstration of EMS symbolic engine for modelling and integrating dynamic systems that uses multiple sensors. This is a basic INS/GNSS loosely-coupled system using EKF.
Dr. Mohamed Atia
core +1 more source
, 2023 Supplemental material, sj-docx-1-ems-10.1177_14690667231200139 for Identification of human hexahydrocannabinol metabolites in urine by Willi Schirmer, Volker Auwärter, Julia Kaudewitz, Stefan Schürch and Wolfgang Weinmann in European Journal of Mass ...
Stefan Schürch (428881) +4 more
core +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Electronic Journal of Plant Breeding, 2020 Seeds of cowpea (Vigna unguiculata (L.) Walp) variety CO 7 and Tirunelveli local were treated with gamma ray doses at 150, 200, 250, 300 and 350 Gy and EMS (Ethyl Methane Sulphonate) doses at 5, 10, 15, 20 and 25 mM.
M. Preethi and A. Muthuswamy
doaj +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source