Associated Papers
DDHD2 provides a flux of saturated fatty acids for neuronal energy and function.
Saber SH et al.
Nature Metabolism, 2025
41028912 (PubMed )
Supplement: 42255_2025_1367_MOESM6_ESM.xlsx › DDHD2_mutations
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG54
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
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL et al.
Molecular Neurodegeneration, 2018
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