WDR45 Antibody

1. WIPI3 and WIPI4 beta-propellers have roles as scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy PMID: 28561066
2. This study showed that Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45. PMID: 29171013
3. This study showed that WDR45 genes account for disease of patients diagnosed with an Neurodegeneration with brain iron accumulation disorder. PMID: 29325618
4. This study showed the WDR45 mutation complicated by infantile spasms. PMID: 28551038
5. A rare male patient is reported with mutation in WDR45 and early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase. PMID: 28711740
6. Inherited WDR45 variants are possible, albeit rare. Hemizygous germline variants in males can be viable, but likely result in a more severe NBIA phenotype. PMID: 26577041
7. Our findings indicate that hemizygous WDR45 mutations in males lead to severe epileptic encephalopathy. PMID: 27030146
8. WDR45 mutation is associated with beta-propeller protein-associated neurodegeneration. PMID: 26481852
9. It is an autophagy gene and its mutation causes SENDA/BPAN(beta-propeller protein associated neurodegeneration). (review) PMID: 27349079
10. Genetic analysis for WDR45 revealed that she had a splice site mutation PMID: 27349085
11. C19orf12 mutations were confirmed in our heterogeneous NBIA cohort, while WDR45 mutations appear to be restricted to the subtype showing encephalopathy in childhood with neurodegeneration in adulthood. PMID: 25592411
12. An observed mutation of WDR45 (c.C868T:p.Q290X) seems to cause beta-propeller protein-associated neurodegeneration. PMID: 25263061
13. Mutations in WDR45 were associated with neurodegeneration with brain iron accumulation and neuropsychiatric syndromes. PMID: 24368176
14. Mutations in WDR45 are associated with brain iron accumulation and X-linked disorders of neurodegeneration. PMID: 23687123
15. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. PMID: 23435086
16. we have identified mutations in WDR45 as a cause of a distinctive X-linked dominant form of neurodegeneration with brain iron accumulation (NBIA) PMID: 23176820

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HGNC: 28912

OMIM: 300526

KEGG: hsa:11152

STRING: 9606.ENSP00000348848

UniGene: Hs.632807