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The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase

29 Sept 2014

Abstract excerpt

Complex hereditary spastic paraplegia (HSP) is a genetic disorder that causes lower limb spasticity and weakness and intellectual disability. Deleterious mutations in the poorly characterized serine hydrolase DDHD2 are a causative basis for recessive complex HSP. DDHD2 exhibits phospholipase activity in vitro, but its endogenous substrates and biochemical functions remain unknown. Here, we report the development...

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PMID: 25267624
DOI: 10.1073/pnas.1413706111

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The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipasePMID 25267624Read ↗

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.Semantic proximity Read ↗

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Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).Semantic proximity Read ↗

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PLCγ2 deficiency compromises systemic immune tolerance and erodes myelin homeostasis while enhancing oxidative metabolism in the mouse brainSemantic proximity Read ↗

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegiaSemantic proximity Read ↗

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