Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG54
DDHD2, whose mutations cause spastic paraplegia type 54, enhances lipophagy via engaging ATG8 family proteins.
Jia F et al.
Cell Death and Differentiation, 2024
Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.
Chou YT et al.
Annals of Clinical and Translational Neurology, 2023
Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54.
Xu X et al.
Frontiers in Pediatrics, 2022
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.
Nicita F et al.
Journal of Neurology, 2019
Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis.
Maruyama T et al.
Cell Death & Disease, 2018
Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets.
Inloes JM et al.
Biochemistry, 2018
Autosomal recessive spinocerebellar ataxias in Japan.
Tanaka F et al.
Rinsho Shinkeigaku = Clinical Neurology, 2016
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
Doi H et al.
Scientific Reports, 2014
[Clinical features of autosomal dominant spinocerebellar ataxias genetically unclassified into any known triplet-repeat diseases].
Aoki K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2001
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