Video Experimental Relacionado

Updated: Jan 20, 2026

Quantitative Analysis of Climbing Defects in a Drosophila Model of Neurodegenerative Disorders

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Published on: June 13, 2015

eVGeMdb: una base de datos curada manualmente para modificadores genéticos de trastornos neurodegenerativos validados

Subashani Singh¹, Pratibha Singh¹, M P Varada¹

¹Department of Biotechnology, Indian Institute of Technology Hyderabad, Kandi, Telangana 502284, India.

NAR molecular medicine

|January 19, 2026

Resumen

Los investigadores crearon eVGeMdb, una base de datos de modificadores genéticos para trastornos neurodegenerativos (TN). Este recurso consolida el conocimiento fragmentado, ayudando al estudio de los mecanismos de la enfermedad y los posibles objetivos terapéuticos.

Área de la Ciencia:

Genética
Neurociencia
Bioinformática

Sus antecedentes:

Los modificadores genéticos influyen en el inicio y la progresión de la enfermedad al interactuar con genes primarios de la enfermedad.
El conocimiento de los modificadores genéticos para los trastornos neurodegenerativos (TN) está actualmente fragmentado en varios modelos experimentales.

Objetivo del estudio:

Desarrollar eVGeMdb, una base de datos completa y curada manualmente de modificadores genéticos validados experimentalmente para los principales TN.
Integrar datos de modificadores de diversos sistemas modelo para comparaciones entre enfermedades y específicas del modelo.

Principales métodos:

Curación manual de datos de modificadores genéticos de la literatura científica.
Integración de información de sistemas modelo que incluyen *Drosophila melanogaster*, *Caenorhabditis elegans*, *Saccharomyces cerevisiae*, modelos celulares y ratones.
Anotación de entradas con contexto experimental, información funcional, ortólogos humanos y enlaces de red/vías.

Principales resultados:

eVGeMdb es una base de datos completa con más de 17.000 entradas de modificadores genéticos para TN.
La base de datos incluye modificadores para la Esclerosis Lateral Amiotrófica, la enfermedad de Alzheimer, la enfermedad de Parkinson, la enfermedad de Huntington y otras.
El recurso facilita la identificación de modificadores universales y específicos de la enfermedad.

Conclusiones:

eVGeMdb proporciona una plataforma centralizada y accesible para la investigación de modificadores genéticos de trastornos neurodegenerativos.
La base de datos apoya la generación de hipótesis, la validación experimental y la investigación de la fisiopatología de la enfermedad.
Este recurso ayuda a los investigadores a comprender el complejo panorama genético de los trastornos neurodegenerativos.

Palabras clave:

modificadores genéticos trastornos neurodegenerativos base de datos genética neurociencia bioinformática

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