Gene Locus : human-DAGLB, human-DAGLB, human-DAGLB
Mode of mutation : Natural mutant
Disease : Parkinson disease, autosomal recessive (ARPD) early-onset (EOPD)
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
homozygous frameshift variant (c.1770_1771del, p.Tyr591ProfsTer26), which was predicted to be pathogenic
| Title : Identification of DAGLB variants in Japanese early-onset Parkinson's disease - Luo_2025_J.Neural.Transm.(Vienna)__ |
| Author(s) : Luo Y , Funayama M , Hatano T , Li Y , Yoshino H , Yamashita S , Mori A , Nakamura R , Hashizume Y , Yoshida M , Riku Y , Kanzato N , Hattori N |
| Ref : J Neural Transm (Vienna) , : , 2025 |
| Abstract : |
| PubMedSearch : Luo_2025_J.Neural.Transm.(Vienna)__ |
| PubMedID: 40244389 |
| Gene_locus related to this paper: human-DAGLB |
| Title : Identification of DAGLB variants in Japanese early-onset Parkinson's disease - Luo_2025_J.Neural.Transm.(Vienna)__ |
| Author(s) : Luo Y , Funayama M , Hatano T , Li Y , Yoshino H , Yamashita S , Mori A , Nakamura R , Hashizume Y , Yoshida M , Riku Y , Kanzato N , Hattori N |
| Ref : J Neural Transm (Vienna) , : , 2025 |
| Abstract : |
| PubMedSearch : Luo_2025_J.Neural.Transm.(Vienna)__ |
| PubMedID: 40244389 |
| Gene_locus related to this paper: human-DAGLB |
| Title : Identification of DAGLB variants in Japanese early-onset Parkinson's disease - Luo_2025_J.Neural.Transm.(Vienna)__ |
| Author(s) : Luo Y , Funayama M , Hatano T , Li Y , Yoshino H , Yamashita S , Mori A , Nakamura R , Hashizume Y , Yoshida M , Riku Y , Kanzato N , Hattori N |
| Ref : J Neural Transm (Vienna) , : , 2025 |
| Abstract : |
| PubMedSearch : Luo_2025_J.Neural.Transm.(Vienna)__ |
| PubMedID: 40244389 |
| Gene_locus related to this paper: human-DAGLB |