Results 71 to 80 of about 3,056 (192)
Annals of the Child Neurology Society, Volume 3, Issue 4, Page 314-323, December 2025.ABSTRACT Background Pathogenic CYFIP2 variants cause developmental and epileptic encephalopathy (DEE), characterized by early‐onset intractable epilepsy and developmental delay. The disease course has not been delineated. Codon Arg87 is a de novo mutational hotspot associated with a severe DEE phenotype via gain‐of‐function mechanisms. Currently, there
Michaela Squire +3 more
wiley +1 more source
Enhanced carbonyl stress induces irreversible multimerization of CRMP2 in schizophrenia pathogenesis [PDF]
Life Science Alliance, 2019 Enhanced carbonyl stress underlies a subset of schizophrenia, but its causal effects remain elusive. Here, we elucidated the molecular mechanism underlying the effects of carbonyl stress in iPS cells in which the gene encoding zinc metalloenzyme glyoxalase I (GLO1), a crucial enzyme for the clearance of carbonyl stress, was disrupted.
Manabu Toyoshima +7 more
openaire +2 more sources
Scientific Reports, 2017 The Platelet Derived Growth Factor (PDGF) family of ligands have well established functions in the induction of cell proliferation and migration during development, tissue homeostasis and interactions between tumours and stroma.
Adil R. Sarhan +6 more
doaj +1 more source
Chinese Medical Journal, 2017 Background: Collapsin response mediator protein-2 (CRMP2) has been shown to be involved in ischemia/hypoxia (IH) injury. We determined whether CRMP2 modulates ischemic injury in the retinal of Ocular ischemic syndrome (OIS). This study was to explore the
Yu Wang +4 more
doaj +1 more source
Journal of Neurochemistry, Volume 169, Issue 11, November 2025.PTPRD (receptor‐type protein tyrosine phosphatase delta) translates extracellular adhesion “codes” into intracellular phosphotyrosine signaling that shapes brain circuits. Alternative inclusion of micro‐exons meA and meB sculpts PTPRD's Ig domain, dictating trans‐synaptic binding to partners such as IL1RAPL1 or IL1RAP and thereby tuning synapse ...
Seoyeong Kim +4 more
wiley +1 more source
O-GlcNAcase contributes to cognitive function in Drosophila [PDF]
, 2020 Contains fulltext : 219183.pdf (publisher's version ) (Open ...
Catinozzi, Marica +7 more
core +3 more sources
Glucose Metabolic Reprogramming in Colorectal Cancer: From Mechanisms to Targeted Therapy Approaches
Cancer Medicine, Volume 14, Issue 17, September 2025.ABSTRACT Background Colorectal cancer (CRC) is one of the most common malignant tumors, and its morbidity ranks third among all cancers, with a trend toward younger patients. Metabolic reprogramming, a unique metabolic mode in tumor cells, is closely related to the occurrence and development of CRC. Numerous studies have confirmed that many genetic and
Runkai Zhou +4 more
wiley +1 more source
Dissecting the role of the CRMP2–neurofibromin complex on pain behaviors [PDF]
Pain, 2017 AbstractNeurofibromatosis type 1 (NF1), a genetic disorder linked to inactivating mutations or a homozygous deletion of theNf1gene, is characterized by tumorigenesis, cognitive dysfunction, seizures, migraine, and pain. Omic studies on human NF1 tissues identified an increase in the expression of collapsin response mediator protein 2 (CRMP2), a ...
Moutal, Aubin +13 more
openaire +2 more sources
PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation [PDF]
, 2014 OBJECTIVE: Much of the genetic basis for Alzheimer disease (AD) is unexplained. We sought to identify novel AD loci using a unique family-based approach that can detect robust associations with infrequent variants (minor allele frequency < 0.10). METHODS:
Abraham, Carmela R. +20 more
core +1 more source
Molecular Mechanisms of Chronic Pain and Therapeutic Interventions
MedComm, Volume 6, Issue 8, August 2025.We offer a comprehensive overview of the distinctive molecular mechanisms underlying nociceptive, neuropathic, and nociplastic pain, including the immune responses, ion channels, monoaminergic imbalance, and neuroinflammation. Subsequently, we summarized the status quo of nociceptive, neuropathic, and nociplastic pain managementmanipulation.
Zhen Li +8 more
wiley +1 more source