Article
New insights into HPDL protein: identification of a novel Bi-allelic variant, docking simulation study, and literature review.
BMC medical genomics - 11 May 2026
Vaghefi Fatemeh, Khosravi Teymoor, Motallebi Farzaneh, Zarghami Sheyda, Al Sudani Zainab M, Rahimzadeh Arian, Kowsari Ali, Sefidbakht Yahya, Dolatabadi Alireza Kargar, Oladnabi Morteza
Abstract excerpt
BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a rare neurodegenerative disorder causing progressive weakness and spasticity in the lower limbs. variants in the HPDL gene are linked to Spastic Paraplegia 83 (SPG83), an autosomal recessive form of HSP. While HPDL variants are known to cause SPG83, the molecular mechanisms behind its role remains unclear, mostly due to rare nature of the condition. METHODS: The...
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