Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Cold tolerance in Cicer arietinum L. seedlings: multivariate insights into freezing stress resistance. [PDF]
BMC Plant BiolNabati J +4 more
europepmc +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Contrasting Aquaculture Systems Shape Distinct Growth and Short-Term Stress-Resistance Trait Clusters in the Red Swamp Crayfish. [PDF]
Animals (Basel)Gao G +9 more
europepmc +1 more source
A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley +1 more source
MAK-2 Kinase Is Required for Extended Longevity and Enhanced Stress Resistance Resulting From Mild Impairment of Mitochondrial Function in isp-1 Mutants. [PDF]
Aging CellAnglas U +9 more
europepmc +1 more source
Arthritis Care &Research, EarlyView.Objective We aimed to construct and evaluate the first laboratory‐based frailty index (FI‐Lab) for predicting adverse outcomes in systemic lupus erythematosus (SLE) and to compare its predictive ability to that of an existing clinical FI. Methods We used data from a single‐center prospective cohort of adult patients with SLE whose baseline visit ...
Grace Burns +2 more
wiley +1 more source
The roles of the Listeria monocytogenes post-translocation chaperones PrsA1 and PrsA2 in protein secretion and stress resistance. [PDF]
J BacteriolGeorge JL +4 more
europepmc +1 more source
Arthritis Care &Research, EarlyView.Objective To support high‐quality, patient‐centered care for systemic lupus erythematosus (SLE), the American College of Rheumatology (ACR) developed evidence‐based measures incorporating clinical and patient‐reported outcome measures (PROMs). Using the Consolidated Framework for Implementation Research (CFIR), we conducted semistructured interviews ...
Catherine Nasrallah +13 more
wiley +1 more source
Microalgae-Based Biostimulants: Effects on Growth and Stress Resistance in Agricultural Crops. [PDF]
Plants (Basel)Arenas Colarte C +7 more
europepmc +1 more source