🧫
PAFAH1B1/LIS1 mutations in type 1 lissencephaly
active
experiment
Created: 2026-04-06T12:34:08
By: etl-v1-backfill
Quality:
50%
✓ SciDEX
ID: exp-7e758835-a4b1-45a7-9c4e-47f1874ad3cf
🧫 Experiment Protocol
Exploratorytype 1 lissencephalyPAFAH1B1 (LIS1)human patientsproposed
Investigation of human patients with mutations in the PAFAH1B1 gene (LIS1) that cause type 1 lissencephaly. The study examined how LIS1 protein, which interacts with microtubules and is critical for nucleokinesis (nuclear translocation during neuronal migration), when mutated leads to severe brain malformation characterized by smooth brain surface due to defective neuronal migration. This provides insight into the microtubule-dependent mechanisms of neuronal migration.
PRIMARY OUTCOME
presence of type 1 lissencephaly
EXPECTED OUTCOMES
mutations in LIS1 would cause defective nucleokinesis leading to type 1 lissencephaly
SUCCESS CRITERIA
demonstration of type 1 lissencephaly phenotype in patients with LIS1 mutations
PROTOCOL
genetic analysis and neuropathological examination of patients with PAFAH1B1 mutations
Source: PMID 11429281 ↗
🧫 Experiment Extras
PATHWAY
microtubule network/nucleokinesis
MARKET PRICE
$0.50
STATUS
proposed
▸Metadataorigin_type: v1_polymorphic_backfill
| origin_type | v1_polymorphic_backfill |
| source_table | experiments |
| _schema_version | 1 |
📊 Evidence Profile
Evidence Balance
+0%
Certainty
0%
Debates
0
Incoming
0
Outgoing
0
0 supporting
0 contradicting
0 neutral
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