Neurología, 2017 Resumen: Introducción: El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria y se asocia a un amplio espectro de enfermedades en las distintas generaciones de una misma familia.
A. Pugin +9 more
doaj +1 more source
NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]
, 2010 Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core
Novel HUWE1‐Related Neurodevelopmental Disorder: Genotypic and Phenotypic Expansion
International Journal of Developmental Neuroscience, Volume 86, Issue 1, February 2026.This study highlights novel HUWE1 variants that expand the genetic and clinical spectrum of neurodevelopmental disorders, establishing the essential role of the HECT domain in disease mechanism. ABSTRACT Background The HUWE1 gene plays a crucial role in mediating embryonic development as well as the differentiation and proliferation of neural cells ...
Yanyan Dai +4 more
wiley +1 more source
Biology Open, 2012 Summary FMRP is an evolutionarily conserved protein that is highly expressed in neurons and its deficiency causes fragile X mental retardation syndrome.
Cristina Gareau +4 more
doaj +1 more source
Fragile X Syndrome and Targeted Treatments
Journal of Biomedicine and Translational Research, 2020 Many targeted treatment studies have been carried out in individuals with Fragile X Syndrome (FXS) guided by animal studies from the Fragile X Mental Retardation 1 (FMR1) knock out (KO) mice and the fragile X Drosophila studies.
Nattaporn Tassanakijpanich +3 more
doaj +1 more source
Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome. [PDF]
, 2019 BackgroundNumerous preclinical studies have supported the theory that enhanced activation of mGluR5 signaling, due to the absence or reduction of the FMR1 protein, contributes to cognitive and behavioral deficits in patients with fragile X syndrome (FXS).
Berry-Kravis, Elizabeth +7 more
core +2 more sources
Astrocyte Senescence Impairs Synaptogenesis due to Thrombospondin‐1 Loss
Aging Cell, Volume 25, Issue 2, February 2026.Senescent hippocampal astrocytes lose TSP secretion, impairing excitatory synaptogenesis via the α2δ‐1 pathway. Restoring TSP‐1 rescues synaptic formation, revealing the contribution of astrocyte senescence to age‐related hippocampal synaptic decline.
Stefano Ercoli +3 more
wiley +1 more source
Voltage-independent SK-channel dysfunction causes neuronal hyperexcitability in the hippocampus of Fmr1 knock-out mice [PDF]
, 2019 Neuronal hyperexcitability is one of the major characteristics of fragile X syndrome (FXS), yet the molecular mechanisms of this critical dysfunction remain poorly understood. Here we report a major role of voltage-independent potassium (
Carlin, Dan +6 more
core +1 more source
Purkinje cell-specific Grip1/2 knockout mice show increased repetitive self-grooming and enhanced mGluR5 signaling in cerebellum [PDF]
, 2019 Cerebellar Purkinje cell (PC) loss is a consistent pathological finding in autism. However, neural mechanisms of PC-dysfunction in autism remain poorly characterized.
Chiu, Shu-Ling +6 more
core +1 more source
Sulphur Analogues of Homoisoflavonoids as Potential Treatments for Neovascular Eye Diseases
ChemMedChem, Volume 21, Issue 2, January 2026.Neovascular eye diseases are characterised by the abnormal growth of often fragile blood vessels in the eye. Treatment focuses on reducing angiogenesis as well as reducing oxidative stress induced inflammation, a key underlying cause. Synthetic sulphur analogues of naturally occurring homoisoflavonoids, synthesised in three steps, have shown promise as
Jacob D. Hiles +9 more
wiley +1 more source