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DDHD2 gene

Known as: DDHD2, DDHD DOMAIN-CONTAINING PROTEIN 2, KIAA0725 
National Institutes of Health

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Related topics

2 relations
DDHD1 geneSPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
Hereditary spastic paraplegias (HSP) are clinical and genetic heterogeneous diseases with more than 80 disease genes identified… 
2018
2018
Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis
DDHD2/KIAA0725p is a mammalian intracellular phospholipase A1 that exhibits phospholipase and lipase activities. Mutation of the… 
2017
2017
Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets.
Deleterious mutations in the serine lipase DDHD2 are a causative basis of complex hereditary spastic paraplegia (HSP, subtype… 
2016
2016
Enzymatic characterization of recombinant rat DDHD2: a soluble diacylglycerol lipase.
DDHD2 has been reported to exhibit phospholipase A1, triacylglycerol (TG) lipase and diacylglycerol (DG) lipase activities… 
Highly Cited
2014
Highly Cited
2014
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis
Complicated hereditary spastic paraplegias (HSP) are a heterogeneous group of HSP characterized by spasticity associated with a… 
Highly Cited
2009
Highly Cited
2009
Co-amplified genes at 8p12 and 11q13 in breast tumors cooperate with two major pathways in oncogenesis
Co-amplification at chromosomes 8p11–8p12 and 11q12–11q14 occurs often in breast tumors, suggesting possible cooperation between… 
2005
2005
Implication of an intracellular phospholipase A1, KIAA0725, in cycling of TGN46 by hydrolyzing phosphatidylethanolamine
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