European Journal of Pharmacology, Год журнала: 2024, Номер unknown, С. 177230 - 177230
Опубликована: Дек. 1, 2024
Язык: Английский
Genes, Год журнала: 2025, Номер 16(2), С. 149 - 149
Опубликована: Янв. 25, 2025
Background/Objectives: Fragile X syndrome (FXS) is one of the most common genetic causes intellectual developmental disability and autism spectrum disorder (ASD), second only to Down’s associated with a broad range neurodevelopmental, behavioral, psychiatric challenges. FXS may be present in infants or young children characteristic dysmorphic features, delays, behavioral The diagnosis confirmed by molecular testing FMR1 gene encoding fragile messenger RNA-binding protein (FMRP), involved regulating translation multiple mRNAs which play key role neuronal development synaptic plasticity. Understanding cause, pathophysiology, natural history crucial for identifying commonly comorbidities, instituting effective therapeutic interventions, improving long-term outcomes. Methods: This systematic review employed comprehensive literature search using electronic databases including PubMed, Web Science, Scopus keywords related syndrome, lifespan, genetics, disorders. Results: an increased risk specific Symptoms challenges vary based on factors, differences, age, sex, comorbid conditions, various environmental influences, availability support, opportunities interventions. Knowledge these associations helps guide caregivers clinicians potentially treatable conditions that can help improve lives affected patients their families. Conclusions: focus this article explore describe underpinnings FXS, identify developmental, over provide clinical interventions investigational treatments, current research updates.
Язык: Английский
Процитировано
1
Molecules, Год журнала: 2025, Номер 30(3), С. 692 - 692
Опубликована: Фев. 4, 2025
Phosphodiesterase 4 (PDE4) catalyzes cyclic adenosine monophosphate (cAMP) hydrolysis, playing a crucial role in the cAMP signaling pathway. is secondary messenger involved numerous physiological functions, such as inflammatory responses, immune neural activity, learning, and memory. PDE4 inhibition important for controlling anti-inflammatory neuroprotective effects. In this review, we provide comprehensive overview of molecular functions properties human PDE4s. The study presents detailed sequence information isoforms structural catalytic domain members family. We also review inhibitory effects inhibitors roflumilast cilomilast related to respiratory diseases PDE4. crystal structures complex with are analyzed. This provides useful future design novel inhibitors.
Язык: Английский
Процитировано
0
European Journal of Medicinal Chemistry, Год журнала: 2024, Номер 280, С. 116930 - 116930
Опубликована: Окт. 9, 2024
Язык: Английский
Процитировано
2
Current Opinion in Neurobiology, Год журнала: 2024, Номер 90, С. 102966 - 102966
Опубликована: Дек. 30, 2024
Cyclic AMP (cAMP) is a key regulator of synaptic function and dysregulated in both neurodevelopmental (NDD) neurodegenerative disorders. Due to the ease diffusion promiscuity downstream effectors, cAMP signaling restricted within spatiotemporal domains localize activation. Among best-studied mechanisms feedback inhibition cAMP-dependent protein kinase (PKA) activity by phosphodiesterases 4 (PDE4s) at synapses controlling neuronal plasticity, which largely regulated PDE4D. In fact, genetic variants genes for multiple PKA subunits PDE4D lead NDDs. Here, we discuss rationale choosing as candidate design selective allosteric inhibitors recent advances clinical trials. These new compounds improve cognitive preclinical animal models due improved selectivity more physiological active enzyme. We also opportunities better understanding general, development next-generation inhibitors.
Язык: Английский
Процитировано
1
European Journal of Pharmacology, Год журнала: 2024, Номер unknown, С. 177230 - 177230
Опубликована: Дек. 1, 2024
Язык: Английский
Процитировано
0