Results 191 to 200 of about 2,968,826 (290)
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
Chikungunya Virus RNA Secondary Structures Impact Defective Viral Genome Production. [PDF]
Levi LI +9 more
europepmc +1 more source
Location‐Specific Hematoma Volume Predicts Early Neurological Deterioration in Supratentorial ICH
ABSTRACT Objective Early neurological deterioration (END) adversely affects outcomes in patients with intracerebral hemorrhage (ICH). This study aimed to determine the location‐specific hematoma volumes for END in supratentorial ICH patients. Methods We retrospectively analyzed supratentorial ICH patients presenting from two prospective cohorts.
Zuoqiao Li +10 more
wiley +1 more source
How DNA secondary structures drive replication fork instability.
Sethi A +3 more
europepmc +1 more source
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang +8 more
wiley +1 more source
Toward Modeling Protein Multimers by Combining AlphaFold 3 Predictions with Secondary Structures from Medium-Resolution Cryo-EM Maps. [PDF]
Li C, Nguyen T, Wriggers W, He J.
europepmc +1 more source
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
Backbone interactions and secondary structures in phase separation of disordered proteins. [PDF]
Li S, Zhang Y, Chen J.
europepmc +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
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

