Sandbox Reserved 1706: Difference between revisions

Line 6:

==Introduction==

[https://en.wikipedia.org/wiki/Neurofibromatosis_type_I Neurofibromatosis Type 1] is a genetic disorder caused by mutations in the tumor suppressor gene NF1 that codes for the [https://en.wikipedia.org/wiki/GTPase-activating_protein GTPase-activating protein] neurofibromin. Neurofibromin is closely involved in signaling pathways such as [https://en.wikipedia.org/wiki/MAPK/ERK_pathway MARP/ERK], [https://en.wikipedia.org/wiki/PI3K/AKT/mTOR_pathway P13K/AKT/mTOR], and other cell signaling pathways that use [https://en.wikipedia.org/wiki/Ras_GTPase Ras] <ref name="Bergoug"> DOI:10.3390/cells9112365</ref>. Mutations that cause a decrease in activity of neurofibromin cause tumors to grow along your nerves. As neurofibromin is ubiquitously expressed throughout the body, these tumors can grow anywhere. Neurofibromin is located in the [https://en.wikipedia.org/wiki/Cytosol cytosol] of the cell but is recruited to the [https://en.wikipedia.org/wiki/Cell_membrane plasma membrane] to bind to [https://en.wikipedia.org/wiki/Ras_GTPase Ras]. The structure of neurofibromin was detemed through high-resolution single particles [https://en.wikipedia.org/wiki/Cryogenic_electron_microscopy cryogenic electron microscopy] to understand the overall structure and the different domains. [https://en.wikipedia.org/wiki/X-ray_crystallography#:~:text=X%2Dray%20crystallography%20is%20the,diffract%20into%20many%20specific%20directions. X-Ray crystallography] experiments found inconsistency in the structural determination.~~[1]~~

[https://en.wikipedia.org/wiki/Neurofibromatosis_type_I Neurofibromatosis Type 1] is a genetic disorder caused by mutations in the tumor suppressor gene NF1 that codes for the [https://en.wikipedia.org/wiki/GTPase-activating_protein GTPase-activating protein] neurofibromin. Neurofibromin is closely involved in signaling pathways such as [https://en.wikipedia.org/wiki/MAPK/ERK_pathway MARP/ERK], [https://en.wikipedia.org/wiki/PI3K/AKT/mTOR_pathway P13K/AKT/mTOR], and other cell signaling pathways that use [https://en.wikipedia.org/wiki/Ras_GTPase Ras] <ref name="Bergoug"> DOI:10.3390/cells9112365</ref>. Mutations that cause a decrease in activity of neurofibromin cause tumors to grow along your nerves. As neurofibromin is ubiquitously expressed throughout the body, these tumors can grow anywhere. Neurofibromin is located in the [https://en.wikipedia.org/wiki/Cytosol cytosol] of the cell but is recruited to the [https://en.wikipedia.org/wiki/Cell_membrane plasma membrane] to bind to [https://en.wikipedia.org/wiki/Ras_GTPase Ras]. The structure of neurofibromin was detemed through high-resolution single particles [https://en.wikipedia.org/wiki/Cryogenic_electron_microscopy cryogenic electron microscopy] to understand the overall structure and the different domains. [https://en.wikipedia.org/wiki/X-ray_crystallography#:~:text=X%2Dray%20crystallography%20is%20the,diffract%20into%20many%20specific%20directions. X-Ray crystallography] experiments found inconsistency in the structural determination.<ref name="Bergoug"> DOI:10.3390/cells9112365</ref>

==Function==

Neurofibromin is a [https://en.wikipedia.org/wiki/GTPase-activating_protein GTPase-activating protein] that binds to [https://en.wikipedia.org/wiki/Ras_GTPase Ras], a [https://en.wikipedia.org/wiki/GTPase GTPase], to increase the hydrolysis of GTP to GDP. This inactivates the cell signaling of Ras until another [https://en.wikipedia.org/wiki/Guanosine_triphosphate GTP] can replace the [https://en.wikipedia.org/wiki/Guanosine_diphosphate GDP] from the cytosol. Neurofibromin and Ras binding is possible in only the <scene name='90/904311/Open_conformation/2'>open conformation</scene> of Neurofibromin. The mechanism is shown in figure 1 and displays the slow hydrolysis of GTP bound to Ras and the fast hydrolysis of GTP when bound to Neurofibromin.

Sandbox Reserved 1706: Difference between revisions

Navigation menu

Page actions

Page actions

Personal tools

Navigation

Search

Tools

@@ Line 6: / Line 6: @@
 ==Introduction==
-[https://en.wikipedia.org/wiki/Neurofibromatosis_type_I Neurofibromatosis Type 1] is a genetic disorder caused by mutations in the tumor suppressor gene NF1 that codes for the [https://en.wikipedia.org/wiki/GTPase-activating_protein GTPase-activating protein] neurofibromin. Neurofibromin is closely involved in signaling pathways such as [https://en.wikipedia.org/wiki/MAPK/ERK_pathway MARP/ERK], [https://en.wikipedia.org/wiki/PI3K/AKT/mTOR_pathway P13K/AKT/mTOR], and other cell signaling pathways that use [https://en.wikipedia.org/wiki/Ras_GTPase Ras] <ref name="Bergoug"> DOI:10.3390/cells9112365</ref>. Mutations that cause a decrease in activity of neurofibromin cause tumors to grow along your nerves. As neurofibromin is ubiquitously expressed throughout the body, these tumors can grow anywhere. Neurofibromin is located in the [https://en.wikipedia.org/wiki/Cytosol cytosol] of the cell but is recruited to the [https://en.wikipedia.org/wiki/Cell_membrane plasma membrane] to bind to [https://en.wikipedia.org/wiki/Ras_GTPase Ras]. The structure of neurofibromin was detemed through high-resolution single particles [https://en.wikipedia.org/wiki/Cryogenic_electron_microscopy cryogenic electron microscopy] to understand the overall structure and the different domains. [https://en.wikipedia.org/wiki/X-ray_crystallography#:~:text=X%2Dray%20crystallography%20is%20the,diffract%20into%20many%20specific%20directions. X-Ray crystallography] experiments found inconsistency in the structural determination.[1]
+[https://en.wikipedia.org/wiki/Neurofibromatosis_type_I Neurofibromatosis Type 1] is a genetic disorder caused by mutations in the tumor suppressor gene NF1 that codes for the [https://en.wikipedia.org/wiki/GTPase-activating_protein GTPase-activating protein] neurofibromin. Neurofibromin is closely involved in signaling pathways such as [https://en.wikipedia.org/wiki/MAPK/ERK_pathway MARP/ERK], [https://en.wikipedia.org/wiki/PI3K/AKT/mTOR_pathway P13K/AKT/mTOR], and other cell signaling pathways that use [https://en.wikipedia.org/wiki/Ras_GTPase Ras] <ref name="Bergoug"> DOI:10.3390/cells9112365</ref>. Mutations that cause a decrease in activity of neurofibromin cause tumors to grow along your nerves. As neurofibromin is ubiquitously expressed throughout the body, these tumors can grow anywhere. Neurofibromin is located in the [https://en.wikipedia.org/wiki/Cytosol cytosol] of the cell but is recruited to the [https://en.wikipedia.org/wiki/Cell_membrane plasma membrane] to bind to [https://en.wikipedia.org/wiki/Ras_GTPase Ras]. The structure of neurofibromin was detemed through high-resolution single particles [https://en.wikipedia.org/wiki/Cryogenic_electron_microscopy cryogenic electron microscopy] to understand the overall structure and the different domains. [https://en.wikipedia.org/wiki/X-ray_crystallography#:~:text=X%2Dray%20crystallography%20is%20the,diffract%20into%20many%20specific%20directions. X-Ray crystallography] experiments found inconsistency in the structural determination.<ref name="Bergoug"> DOI:10.3390/cells9112365</ref>
 ==Function==
 Neurofibromin is a [https://en.wikipedia.org/wiki/GTPase-activating_protein GTPase-activating protein] that binds to [https://en.wikipedia.org/wiki/Ras_GTPase Ras], a [https://en.wikipedia.org/wiki/GTPase GTPase], to increase the hydrolysis of GTP to GDP. This inactivates the cell signaling of Ras until another [https://en.wikipedia.org/wiki/Guanosine_triphosphate GTP] can replace the [https://en.wikipedia.org/wiki/Guanosine_diphosphate GDP] from the cytosol. Neurofibromin and Ras binding is possible in only the <scene name='90/904311/Open_conformation/2'>open conformation</scene> of Neurofibromin. The mechanism is shown in figure 1 and displays the slow hydrolysis of GTP bound to Ras and the fast hydrolysis of GTP when bound to Neurofibromin.