Los defectos moleculares subyacentes en los síndromes de la Cutis Laxa pueden dividirse más o menos en dos grupos, basados en el tipo de patomecanismo: defectos de los genes que codifican un elemento-ECM «Estructural» o defectos en los genes donde las mutaciones causan errores innatos del metabolismo (IEM) presentes en la Cutis Laxa. La forma […]
Las proteínas secretadas y las proteínas de membrana deben pasar por la vía secretora, que no solo es responsable del transporte al compartimento celular correcto, sino también de la maduración y modificación de estas proteínas. La parte central de esta vía secretora es el compartimiento Golgi que consiste en varias bolsas de membrana que se […]
https://www.cutislaxa.org/wp-content/uploads/2023/01/UWE.jpg174156Marie-Claudehttp://www.cutislaxa.org/wp-content/uploads/2017/12/NEW-LOGO-CLI-4.pngMarie-Claude2022-12-27 11:38:092023-02-06 10:53:10Prof. Dr. Uwe Kornak, MD (Göttingen, Alemania): La Vía Secretoria, Glicosilación y CL
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Dr. Thatjana Gardeitchik, MD (Nijmegen, Holanda): Defectos Neurometabólicos en CL
/en Encuentros, Acontecimientos y Manifestaciones, fotos, Investigación, Investigación- Medicina - Genética, Mutations, Noticias /por Marie-ClaudeLos defectos moleculares subyacentes en los síndromes de la Cutis Laxa pueden dividirse más o menos en dos grupos, basados en el tipo de patomecanismo: defectos de los genes que codifican un elemento-ECM «Estructural» o defectos en los genes donde las mutaciones causan errores innatos del metabolismo (IEM) presentes en la Cutis Laxa. La forma […]
Prof. Dr. Uwe Kornak, MD (Göttingen, Alemania): La Vía Secretoria, Glicosilación y CL
/en Encuentros, Acontecimientos y Manifestaciones, fotos, Investigación, Investigación- Medicina - Genética, Mutations, Noticias /por Marie-ClaudeLas proteínas secretadas y las proteínas de membrana deben pasar por la vía secretora, que no solo es responsable del transporte al compartimento celular correcto, sino también de la maduración y modificación de estas proteínas. La parte central de esta vía secretora es el compartimiento Golgi que consiste en varias bolsas de membrana que se […]