PhenomeGene — Human Disease Gene Website SeriesHACE1

Publications

Akawi N et al. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.Nat Genet. 2015 Oct 5;47(11):1363–1369. PMID: 26437029.

Hollstein R et al. HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.J Med Genet. 2015;52:797-803. PMID: 26424145.

Kogler M et al. HACE1 Prevents Lung Carcinogenesis via Inhibition of RAC-Family GTPases.Cancer Res. 2020;80(14):3009-3022. PMID: 32366477.

Nagy V et al. HACE1 deficiency leads to structural and functional neurodevelopmental defects.Neurol Genet. 2019 Apr 29;5(3):e330. PMID: 31321300.

Sager G et al. HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies. Act. Neurol. Belg. 2022;122:391-399. PMID: 33813722.

Tort F. HACE1 builds molecular crosstalks between rare diseases and (more) common disorders. Clin Transl Med. 2022 Jun 9;12(6):e922. PMID: 35678127.

Usmani M et al. A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.Genes 2024;15(5):580. PMID: 38790209.

Zang C et al. Emerging role and mechanism of HACE1 in the pathogenesis of neurodegenerative diseases: A promising target.Biomed & Pharm 2024;172:116204. PMID: 38364733.