Proteomics

Dataset Information

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DDHD2, whose mutation causes spastic paraplegia type 54, is cargo receptor for lipophagy


ABSTRACT: DDHD2 mutation was a common cause of SPG54 disease. While its mechanism of action was unclear, we aimed to comprehensively characterize the DDHD2 interactome networks in cells. To achieve this, we used affinity purification coupled with mass spectrometry (AP-MS) to define the interactome for DDHD2. We transiently transfected FLAG-DDHD2 expression plasmids into 293T cells, and then performed whole cell lysis for FLAG immunoprecipitation followed by mass spectrometry analysis (IP-MS). As a result, we identified components of the autophagy complex that were enriched in the interactome of DDHD2

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

Dataset's files

Source:
Action DRS
Exploris04008-SKY-WCJ-JF-20230706-DDHD2.pdResult Other
Exploris04008-SKY-WCJ-JF-20230706-DDHD2.raw Raw
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Publications

DDHD2, whose mutations cause spastic paraplegia type 54, enhances lipophagy via engaging ATG8 family proteins.

Jia Fei F   Wang Xiaoman X   Fu Yuhua Y   Zhao Shi-Min SM   Lu Boxun B   Wang Chenji C  

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]

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