Ontology highlight
ABSTRACT:
INSTRUMENT(S):
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Permanent Cell Line Cell, Cell Culture
SUBMITTER: fei jia
LAB HEAD: Chengji Wang
PROVIDER: PXD044430 | Pride | 2025-05-06
REPOSITORIES: Pride
Action | DRS | |||
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Exploris04008-SKY-WCJ-JF-20230706-DDHD2.pdResult | Other | |||
Exploris04008-SKY-WCJ-JF-20230706-DDHD2.raw | Raw |
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Cell death and differentiation 20240208 3
Hereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative disorders characterized by progressive lower limb spasticity and weakness. One subtype of HSP, known as SPG54, is caused by biallelic mutations in the DDHD2 gene. The primary pathological feature observed in patients with SPG54 is the massive accumulation of lipid droplets (LDs) in the brain. However, the precise mechanisms and roles of DDHD2 in regulating lipid homeostasis are not yet fully understood. Through Affinit ...[more]