📖

GRN-Mutant Neurons

active
wiki page Created: 2026-04-02T07:19:36 By: crosslink-migration Quality: 50% ✓ SciDEX ID: wiki-cell-types-grn-mutant-neurons
📖 Wiki Page
cell598 wordssynced 2026-04-02

GRN-Mutant Neurons

<table class="infobox infobox-celltype">
<tr>
<th class="infobox-header" colspan="2">GRN-Mutant Neurons</th>
</tr>
<tr> [@gao2018]
<td class="infobox-label">Mutation Type</td> [@kamminga2015]
<td>Frontotemporal Dementia</td> [@fischer2017]
</tr> [@rohrer2011]
<tr>
<td class="infobox-label">Gene Affected</td>
<td>GRN (Progranulin)</td>
</tr>
<tr>
<td class="infobox-label">Common Mutations</td>
<td>Null mutations (frameshift, nonsense), R493X, C496fs, 4del2</td>
</tr>
<tr>
<td class="infobox-label">Mechanism</td>
<td>Haploinsufficiency (50% reduced progranulin)</td>
</tr>
<tr>
<td class="infobox-label">Disease</td>
<td>[Frontotemporal Dementia](/diseases/frontotemporal-dementia)</td>
</tr>
</table>

GRN-Mutant Neurons

Overview

Grn Mutant Neurons plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Introduction

GRN-mutant neurons carry loss-of-function mutations in the progranulin gene (GRN), which cause familial frontotemporal dementia (FTD) through haploinsufficiency. GRN mutations account for approximately 10-20% of familial FTD cases and lead to reduced progranulin protein levels (approximately 50% of normal), resulting in TDP-43 pathology. These mutations typically cause behavioral variant FTD or primary progressive aphasia.

Molecular Mechanisms

Progranulin Biology


...
📖 View canonical wiki page →
Related Entities
cell-types-grn-mutant-neurons
Metadataorigin_type: v1_polymorphic_backfill
slugcell-types-grn-mutant-neurons
kg_node_idNone
entity_typecell
origin_typev1_polymorphic_backfill
source_tablewiki_pages
wiki_page_idwp-95bef460d984
__merged_from{'merged_at': '2026-05-13', 'unprefixed_id': 'cell-types-grn-mutant-neurons'}
_schema_version1
📊 Evidence Profile Foundational
Evidence Balance
+0%
Certainty
100%
Debates
0
Incoming
22
Outgoing
25
0 supporting 0 contradicting 0 neutral
View full evidence profile →
Public annotations (0)Annotate on Hypothes.is →
No public annotations yet.