Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

npj Genomic Medicine, Journal Year: 2023, Volume and Issue: 8(1)

Published: Aug. 11, 2023

Niemann-Pick type C (NPC) disease is a lysosomal storage (LSD) characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to loss function mutations in NPC1 NPC2 genes. NPC patients can present with broad phenotypic spectrum, differences at age onset, rate progression, severity, organs involved, effects on central nervous system, even response pharmacological treatments. This article reviews variation discusses its possible causes, such as remaining defective protein, modifier genes, sex, environmental cues, splicing factors, among others. We propose that these factors should be considered when designing or repurposing treatments for this disease. Despite seeming complexity, proposition not far-fetched, considering expanding interest precision medicine easier access multi-omics technologies.

Language: Английский

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Ginkgo Biloba as a niche theme cognitive enhancer agent, 1420 dokumen of Scopus database. A bibliometric study from 1988 to 2024

F1000Research, Journal Year: 2025, Volume and Issue: 14, P. 275 - 275

Published: March 7, 2025

1) Introduction Cognitive enhancers, also known as nootropics, aim to improve cognitive functions, such memory and attention. Despite their potential benefits, the challenges include scientific validation, ethical considerations, regulatory hurdles. This bibliometric study analyzes literature from Scopus identify key trends, influential authors, research gaps, providing guidance for future research. 2) Methods employs a review methodology gather data database on Neuroaid, analyzing it using Biblioshiny VOSviewer software. The focus was Ginkgo Biloba niche-theme enhancer agent based data, both quantitative qualitative analyses. 3) Results discussion biloba, 'maidenhair tree’ order Ginkgoales, appeared 290 million years ago. Chinese Japanese culture has been cultivated thousands of years. tree is valued its resilience therapeutic properties, often used in traditional medicine respiratory blood circulation issues. 4) Conclusions enhancers aims provide comprehensive systematic existing literature, highlighting gaps. findings this will contribute better understanding current state inform conducted December 2024.

Language: Английский

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Synthesis of Biopolymers and Characterization

Published: March 7, 2025

Language: Английский

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Epigenetic factors in posttraumatic stress disorder resilience and susceptibility

Egyptian Journal of Medical Human Genetics, Journal Year: 2025, Volume and Issue: 26(1)

Published: March 20, 2025

Abstract Background Posttraumatic stress disorder (PTSD) affects approximately 8% of the US population, with varying susceptibility among individuals exposed to trauma. While genetic factors contribute PTSD risk, emerging evidence suggests that epigenetic mechanisms play a crucial role in translating environmental exposures into lasting neurobiological changes. Purpose This review provides comprehensive analysis cutting-edge research on PTSD, particular emphasis novel findings regarding resilience and mechanisms. We explore recent technological advances their applications understanding pathophysiology. Main body Advanced epigenomic approaches have revealed complex interactions between DNA methylation, histone modifications, non-coding RNAs PTSD. Novel highlight cell type-specific signatures temporal dynamics following trauma exposure. Single-cell studies identified previously unknown cellular heterogeneity responses. Recent data modifications not only influence individual but may also transgenerational transmission effects. Integrative multi-omics new insights molecular networks underlying vulnerability. Conclusion unprecedented complexity These open avenues for personalized interventions based profiles suggest therapeutic strategies targeting modifications. enhanced has significant implications risk assessment, prevention, treatment. Graphical abstract

Language: Английский

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Psychiatric Genetics in Clinical Practice: Essential Knowledge for Mental Health Professionals

American Journal of Psychiatry, Journal Year: 2025, Volume and Issue: unknown

Published: March 26, 2025

The authors provide recommendations on incorporating recent advances in psychiatric genetics into clinical practice for mental health clinicians. International Society Psychiatric Genetics Education Committee met monthly to come a consensus priority topics genetics. Topics were then assigned small teams of subspecialty experts summarize the current knowledge base and create an illustrative case. included, familial aggregation, common rare genetic variants, epigenetics, gene-environment interactions, pharmacogenomics, counseling, ethical social implications. Each section was reviewed revised by all committee members finalized Chair. Key findings highlight importance understanding architecture disorders, potential applications information risk assessment, diagnosis, treatment selection, patient education, as well considerations surrounding use data. emphasizes need nuanced approach that integrates factors with environmental experiential holistic model care. As continues evolve rapidly, clinicians must stay informed about latest their Ongoing collaboration professionals, effective communication strategies are crucial harness power while avoiding pitfalls such determinism stigma. recommends balanced perspective recognizes complex interplay non-genetic shaping outcomes.

Language: Английский

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Neem (Azadirachta indica) and Hibiscus Seed as Antiproliferative Agents

Published: Jan. 1, 2024

Language: Английский

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Prevention and Control by Muskmelon and Hami Melon Seeds Towards Controlling Malignant Diseases: Description, Chemistry and Uses

Published: Jan. 1, 2024

Language: Английский

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Repurposed drugs as histone deacetylase 8 inhibitors: Implications in cancer and neuropathological conditions

Frontiers in Pharmacology, Journal Year: 2024, Volume and Issue: 15

Published: Nov. 14, 2024

Histone deacetylase 8 (HDAC8) is a member of class I histone deacetylases (HDACs) that catalyzes the deacetylation both and non-histone proteins. Dysregulation overexpression HDAC8 are implicated in development various complex diseases, including cancer neurodegenerative disorders. plays significant role progression, contributing to cell proliferation, metastasis, immune evasion, drug resistance. The available HDAC8-targeting inhibitors suffer from poor target engagement low tolerability, demonstrate off-target toxicity due limited selectivity, leading adverse effects patients, thus urging for identification new molecules. Drug repurposing useful strategy identifying drugs predefined targets which can be exploited here promising molecules against HDAC8. This study involved an integrated virtual screening using DrugBank database identify repurposed capable inhibiting activity. process started by selecting top 10 based on their binding affinity. profiling biological function selected were then evaluated, showing anti-cancer anti-neurological properties with high probability being active. Interaction analysis revealed crucial radotinib sertindole protein. Both showed higher affinity than reference inhibitor droxinostat. elucidated further evaluated 500 ns long-run molecular dynamics (MD) simulation Structural deviation, compactness, folding behavior, hydrogen bonds analysis, secondary structure content stability formed compounds. Principal component Gibbs free energy calculations strongly recommend complexes highly stable during simulation. Overall, results indicate candidates as neuropathological conditions.

Language: Английский

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Potential of Flavonoids in Viral Infection: From Ethnopharmacology to Clinical Trials

Reference series in phytochemistry, Journal Year: 2023, Volume and Issue: unknown, P. 1 - 30

Published: Jan. 1, 2023

Language: Английский

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Histone Deacetylase (HDAC) Inhibitors: A Fruitful Lead for Medicinal Chemists in the Discovery of Novel Drug(s) for Various Health Disorders

Current Drug Targets, Journal Year: 2023, Volume and Issue: 24(9), P. 697 - 697

Published: July 21, 2023

Language: Английский

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